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Volumn 94, Issue 8, 1996, Pages 2021-2038

Clinical approach to genetic cardiomyopathy in children

Author keywords

cardiomyopathy; diagnosis; genetics

Indexed keywords

ADJUVANT THERAPY; BRAIN DISEASE; CARDIOMYOPATHY; CARDIOVASCULAR DISEASE; CHILD; CHILDHOOD DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FAMILIAL DISEASE; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; MULTIPLE MALFORMATION SYNDROME; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; REVIEW;

EID: 0029838265     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.8.2021     Document Type: Review
Times cited : (134)

References (215)
  • 1
    • 0025650906 scopus 로고
    • Cardiomyopathies in children: Clinical, epidemiological, and prognostic evaluation
    • Bilgig A, Ozbarlas N, Ozkutlu S, Ozer S, Ozme S. Cardiomyopathies in children: clinical, epidemiological, and prognostic evaluation. Jpn Heart J. 1990;31:789-797.
    • (1990) Jpn Heart J , vol.31 , pp. 789-797
    • Bilgig, A.1    Ozbarlas, N.2    Ozkutlu, S.3    Ozer, S.4    Ozme, S.5
  • 2
    • 0025916726 scopus 로고
    • Outcome of infants and children with dilated cardiomyopathy
    • Lewis A, Chabot M. Outcome of infants and children with dilated cardiomyopathy. Am J Cardiol. 1991;68:365-369.
    • (1991) Am J Cardiol , vol.68 , pp. 365-369
    • Lewis, A.1    Chabot, M.2
  • 5
    • 0027215234 scopus 로고
    • Molecular genetic aspects of cardiomyopathy
    • Towbin JA. Molecular genetic aspects of cardiomyopathy. Biochem Med Metab Biol. 1993;49:285-320.
    • (1993) Biochem Med Metab Biol , vol.49 , pp. 285-320
    • Towbin, J.A.1
  • 6
    • 0028347574 scopus 로고
    • Inherited cardiomyopathies
    • Kelly DP, Strauss AW. Inherited cardiomyopathies. N Engl J Med. 1994;330:913-919.
    • (1994) N Engl J Med , vol.330 , pp. 913-919
    • Kelly, D.P.1    Strauss, A.W.2
  • 7
    • 0022884343 scopus 로고
    • Primary (genetic) cardiomyopathies in infancy: A survey of possible disorders and guidelines for diagnosis
    • Kohlschutter A, Hausdorf G. Primary (genetic) cardiomyopathies in infancy: a survey of possible disorders and guidelines for diagnosis. Eur J Pediatr. 1986;145:454-459.
    • (1986) Eur J Pediatr , vol.145 , pp. 454-459
    • Kohlschutter, A.1    Hausdorf, G.2
  • 9
    • 0002243966 scopus 로고
    • Cardiac manifestations of genetic disease
    • Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP, eds. Baltimore, Md: Williams & Wilkins;
    • Pierpont ME, Moller JH. Cardiac manifestations of genetic disease. In: Emmanouilides GC, Riemenschneider TA, Allen HD, Gutgesell HP, eds. Moss and Adams Heart Disease in Infants, Children, and Adolescents. 5th ed. Baltimore, Md: Williams & Wilkins; 1995; 2:1486-1520.
    • (1995) Moss and Adams Heart Disease in Infants, Children, and Adolescents. 5th Ed. , vol.2 , pp. 1486-1520
    • Pierpont, M.E.1    Moller, J.H.2
  • 11
    • 0026057272 scopus 로고
    • Cardiomyopathy: A necessary revision of the WHO classification
    • Boffa GM, Thiene G, Nava A, Volta SD. Cardiomyopathy: a necessary revision of the WHO classification. Int J Cardiol. 1991; 30:1-7.
    • (1991) Int J Cardiol , vol.30 , pp. 1-7
    • Boffa, G.M.1    Thiene, G.2    Nava, A.3    Volta, S.D.4
  • 13
    • 0000591152 scopus 로고
    • Uncommon myocardial diseases, the noncoronary cardiomyopathies
    • Brigden W. Uncommon myocardial diseases, the noncoronary cardiomyopathies. Lancet. 1957;2:1179-1184.
    • (1957) Lancet , vol.2 , pp. 1179-1184
    • Brigden, W.1
  • 15
    • 10244231728 scopus 로고
    • Cardiomyopathies in infants and children
    • Moss AJ, ed. New York, NY: Elsevier Science Publishing Co
    • Perloff JK. Cardiomyopathies in infants and children. In: Moss AJ, ed. Pediatrics Update: Reviews for Physicians. New York, NY: Elsevier Science Publishing Co; 1985:187-204.
    • (1985) Pediatrics Update: Reviews for Physicians , pp. 187-204
    • Perloff, J.K.1
  • 16
    • 0026541618 scopus 로고
    • Developmental modulation of myocardial mechanics: Age and growth related alterations in afterload and contractility
    • Colan SD, Parness IA, Spevak PJ, Sanders SP. Developmental modulation of myocardial mechanics: age and growth related alterations in afterload and contractility. J Am Coll Cardiol. 1992;19:619-629.
    • (1992) J Am Coll Cardiol , vol.19 , pp. 619-629
    • Colan, S.D.1    Parness, I.A.2    Spevak, P.J.3    Sanders, S.P.4
  • 17
    • 0028046479 scopus 로고
    • Limitations of fractional shortening as an index of contractility in pediatric patients infected with human immunodeficiency virus
    • Lipshultz SE, Orav EJ, Sanders SP, McIntosh K, Colan SD. Limitations of fractional shortening as an index of contractility in pediatric patients infected with human immunodeficiency virus. J Pediatr. 1994;125:563-570.
    • (1994) J Pediatr , vol.125 , pp. 563-570
    • Lipshultz, S.E.1    Orav, E.J.2    Sanders, S.P.3    McIntosh, K.4    Colan, S.D.5
  • 18
    • 0017179896 scopus 로고
    • Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart)
    • Rees A, Elbl F, Minhas K, Silinger R. Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart). Am J Cardiol. 1976;37:1103-1106.
    • (1976) Am J Cardiol , vol.37 , pp. 1103-1106
    • Rees, A.1    Elbl, F.2    Minhas, K.3    Silinger, R.4
  • 20
    • 0027049711 scopus 로고
    • Glycogen storage disease type III (glucogen debranching enzyme deficiency): Correction of biochemical defects with myopathy and cardiomyopathy
    • Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT. Glycogen storage disease type III (glucogen debranching enzyme deficiency): correction of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med. 1992;116:896-900.
    • (1992) Ann Intern Med , vol.116 , pp. 896-900
    • Coleman, R.A.1    Winter, H.S.2    Wolf, B.3    Gilchrist, J.M.4    Chen, Y.T.5
  • 21
    • 0015380392 scopus 로고
    • Gross cardiac involvement in glycogen storage disease type III
    • Miller CG, Alleyne GA, Brooks SEH. Gross cardiac involvement in glycogen storage disease type III. Br Heart J. 1972;34:862-864.
    • (1972) Br Heart J , vol.34 , pp. 862-864
    • Miller, C.G.1    Alleyne, G.A.2    Brooks, S.E.H.3
  • 23
    • 0021964786 scopus 로고
    • Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: A new type of glycogen storage disease
    • Eishi Y, Takemura T, Sone R, Yamamura H, Narisawa K, Ichinohasama R, Tanaka M, Hatakeyama S. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Hum Pathol. 1985;16:193-197.
    • (1985) Hum Pathol , vol.16 , pp. 193-197
    • Eishi, Y.1    Takemura, T.2    Sone, R.3    Yamamura, H.4    Narisawa, K.5    Ichinohasama, R.6    Tanaka, M.7    Hatakeyama, S.8
  • 24
    • 0023940227 scopus 로고
    • Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency
    • Servidei S, Metlay LA, Chodosh J, DiMauro S. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr. 1988;113:82-85.
    • (1988) J Pediatr , vol.113 , pp. 82-85
    • Servidei, S.1    Metlay, L.A.2    Chodosh, J.3    DiMauro, S.4
  • 25
    • 0024571470 scopus 로고
    • Glycogen storage disease with normal acid maltase: Skeletal and cardiac muscle
    • Tachi N, Tachi M, Sasaki K. Glycogen storage disease with normal acid maltase: skeletal and cardiac muscle. Pediatr Neurol. 1989; 5:60-63.
    • (1989) Pediatr Neurol , vol.5 , pp. 60-63
    • Tachi, N.1    Tachi, M.2    Sasaki, K.3
  • 26
    • 0023222818 scopus 로고
    • Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy
    • Hart ZH, Servidei S, Peterson PL, Chang CH, DiMauro S. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Neurology. 1987;37:1065-1068.
    • (1987) Neurology , vol.37 , pp. 1065-1068
    • Hart, Z.H.1    Servidei, S.2    Peterson, P.L.3    Chang, C.H.4    DiMauro, S.5
  • 28
    • 0017145225 scopus 로고
    • The heart in the Hurler syndrome: Gross, histologic and ultrastructural observations in five necropsy cases
    • Renteria VG, Ferrans VJ, Roberts WC. The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am J Cardiol. 1976;38:487-501.
    • (1976) Am J Cardiol , vol.38 , pp. 487-501
    • Renteria, V.G.1    Ferrans, V.J.2    Roberts, W.C.3
  • 30
    • 0026499956 scopus 로고
    • Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis type VI
    • Hayflick S, Rowe S, Kavanaugh-McHugh A, Olson JL, Valle D. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis type VI. J Pediatr. 1992;120:269-272.
    • (1992) J Pediatr , vol.120 , pp. 269-272
    • Hayflick, S.1    Rowe, S.2    Kavanaugh-McHugh, A.3    Olson, J.L.4    Valle, D.5
  • 31
    • 0020685686 scopus 로고
    • Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure
    • Miller G, Partridge A. Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure. Pediatr Cardiol. 1983;4:61-62.
    • (1983) Pediatr Cardiol , vol.4 , pp. 61-62
    • Miller, G.1    Partridge, A.2
  • 34
    • 0027999384 scopus 로고
    • Echocardiographic findings in some metabolic storage diseases
    • Senocak F, Sarclar M, Ozkutlu S. Echocardiographic findings in some metabolic storage diseases. Jpn Heart J. 1994;35:635-643.
    • (1994) Jpn Heart J , vol.35 , pp. 635-643
    • Senocak, F.1    Sarclar, M.2    Ozkutlu, S.3
  • 39
    • 0027093881 scopus 로고
    • Hypertrophic obstructive cardiomyopathy in a neonate with carbohydrate-deficient glycoprotein syndrome
    • Clayton PT, Winchester BG, Keir G. Hypertrophic obstructive cardiomyopathy in a neonate with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis. 1992;15:857-861.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 857-861
    • Clayton, P.T.1    Winchester, B.G.2    Keir, G.3
  • 40
    • 0025830024 scopus 로고
    • Reversal of cardiac dysfunction secondary to type 1 primary hyperoxaluria after combined liver-kidney transplantation
    • Rodby RA, Tyszka TS, Williams JW. Reversal of cardiac dysfunction secondary to type 1 primary hyperoxaluria after combined liver-kidney transplantation. Am J Med. 1991;90:498-504.
    • (1991) Am J Med , vol.90 , pp. 498-504
    • Rodby, R.A.1    Tyszka, T.S.2    Williams, J.W.3
  • 41
    • 0019981859 scopus 로고
    • Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy
    • Rutledge JC, Haas JE, Monnat R, Milstein JM. Hypertrophic cardiomyopathy is a component of subacute necrotizing encephalomyelopathy. J Pediatr. 1982;101:706-710.
    • (1982) J Pediatr , vol.101 , pp. 706-710
    • Rutledge, J.C.1    Haas, J.E.2    Monnat, R.3    Milstein, J.M.4
  • 42
    • 0023196089 scopus 로고
    • Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of the mitochondrial electron transport: Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy
    • Hoppel CL, Kerr DS, Dahms B, Roessman U. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of the mitochondrial electron transport: fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. J Clin Invest. 1987;80:71-77.
    • (1987) J Clin Invest , vol.80 , pp. 71-77
    • Hoppel, C.L.1    Kerr, D.S.2    Dahms, B.3    Roessman, U.4
  • 43
    • 0027954897 scopus 로고
    • Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency
    • Reichmann H, Angelini C. Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency. Eur Neurol. 1993; 34:95-98.
    • (1993) Eur Neurol , vol.34 , pp. 95-98
    • Reichmann, H.1    Angelini, C.2
  • 44
    • 0021186586 scopus 로고
    • Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria
    • Papadimitriou A, Neustein HB, DiMauro S, Stanton R, Bresolin N. Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res. 1984;18:1023-1028.
    • (1984) Pediatr Res , vol.18 , pp. 1023-1028
    • Papadimitriou, A.1    Neustein, H.B.2    DiMauro, S.3    Stanton, R.4    Bresolin, N.5
  • 45
    • 0019920381 scopus 로고
    • Cytochrome c oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy
    • Rimoldi M, Bottacchi E, Rossi L, Cornelio F, Uziel G, Di Donato S. Cytochrome c oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy. J Neurol. 1982;227:201-207.
    • (1982) J Neurol , vol.227 , pp. 201-207
    • Rimoldi, M.1    Bottacchi, E.2    Rossi, L.3    Cornelio, F.4    Uziel, G.5    Di Donato, S.6
  • 49
    • 0028918471 scopus 로고
    • Cardiac involvement in mitochondrial diseases: A study on 17 patients with documented mitochondrial DNA defects
    • Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, Osame M, Tanaka H. Cardiac involvement in mitochondrial diseases: a study on 17 patients with documented mitochondrial DNA defects. Circulation. 1995;91:955-961.
    • (1995) Circulation , vol.91 , pp. 955-961
    • Anan, R.1    Nakagawa, M.2    Miyata, M.3    Higuchi, I.4    Nakao, S.5    Suehara, M.6    Osame, M.7    Tanaka, H.8
  • 50
    • 0027174565 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) decrease in diastolic left ventricular function assessed by echocardiography
    • Suzuki Y, Harada K, Miura Y, Sato W, Hayasaka K, Kawamura K, Takada G. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) decrease in diastolic left ventricular function assessed by echocardiography. Pediatr Cardiol. 1993;14:162-166.
    • (1993) Pediatr Cardiol , vol.14 , pp. 162-166
    • Suzuki, Y.1    Harada, K.2    Miura, Y.3    Sato, W.4    Hayasaka, K.5    Kawamura, K.6    Takada, G.7
  • 53
    • 0028070162 scopus 로고
    • Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene
    • Merante F, Tein I, Benson L, Robinson BH. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA (glycine) gene. Am J Hum Genet. 1994;55:437-446.
    • (1994) Am J Hum Genet , vol.55 , pp. 437-446
    • Merante, F.1    Tein, I.2    Benson, L.3    Robinson, B.H.4
  • 57
    • 0026554441 scopus 로고
    • Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement
    • Figarella-Branger D, Pellissier JF, Scheinere, Wernert F, Desnuelle C. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci. 1992;108:105-113.
    • (1992) J Neurol Sci , vol.108 , pp. 105-113
    • Figarella-Branger, D.1    Pellissier, J.F.2    Scheinere3    Wernert, F.4    Desnuelle, C.5
  • 58
    • 0344145035 scopus 로고
    • Sengers disease with deficiency of complexes I and IV
    • Abstract
    • Servidei S, Dionisi-Vici C, Bertini E. Sengers disease with deficiency of complexes I and IV. Ital J Neurol Sci. 1990;11:194. Abstract.
    • (1990) Ital J Neurol Sci , vol.11 , pp. 194
    • Servidei, S.1    Dionisi-Vici, C.2    Bertini, E.3
  • 62
    • 0019830914 scopus 로고
    • Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy
    • Tripp ME, Katcher ML, Peters HA, Gilbert EF, Arya S, Hodach RJ, Shug AL. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med. 1981;305:385-390.
    • (1981) N Engl J Med , vol.305 , pp. 385-390
    • Tripp, M.E.1    Katcher, M.L.2    Peters, H.A.3    Gilbert, E.F.4    Arya, S.5    Hodach, R.J.6    Shug, A.L.7
  • 65
    • 0026410146 scopus 로고
    • Lethal neonatal multiorgan deficiency of carnitine palmitoyl transferase II
    • Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of carnitine palmitoyl transferase II. N Engl J Med. 1991;325:1862-1864.
    • (1991) N Engl J Med , vol.325 , pp. 1862-1864
    • Hug, G.1    Bove, K.E.2    Soukup, S.3
  • 67
    • 0027207327 scopus 로고
    • Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
    • Yamaguchi S, Indo Y, Coates PM, Hashimoto T, Tanaka K. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 1993;34:111-113.
    • (1993) Pediatr Res , vol.34 , pp. 111-113
    • Yamaguchi, S.1    Indo, Y.2    Coates, P.M.3    Hashimoto, T.4    Tanaka, K.5
  • 68
    • 0026096951 scopus 로고
    • Hypoglycemia, hypotonia, and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency
    • Treem WR, Stanley CA, Hale DE, Leopold HB, Hyams JS. Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. Pediatrics. 1991;87:328-333.
    • (1991) Pediatrics , vol.87 , pp. 328-333
    • Treem, W.R.1    Stanley, C.A.2    Hale, D.E.3    Leopold, H.B.4    Hyams, J.S.5
  • 70
    • 0026076169 scopus 로고
    • Short chain-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
    • Tein I, DeVivo DC, Hale DE, Clarke JT, Zinman H, Laxer R, Shore A, DiMauro S. Short chain-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol. 1991;30:415-419.
    • (1991) Ann Neurol , vol.30 , pp. 415-419
    • Tein, I.1    DeVivo, D.C.2    Hale, D.E.3    Clarke, J.T.4    Zinman, H.5    Laxer, R.6    Shore, A.7    DiMauro, S.8
  • 71
    • 0020528080 scopus 로고
    • Multiple acyl-CoA dehydrogenase deficiency (MADD) in a boy with non-ketotic hypoglycemia, hepatomegaly, muscle hypotonia, and cardiomyopathy: Detection of N-isovalerylglutaric acid and its monoamide
    • Niederwieser A, Steinmann B, Exner U, Neuheiser F, Redweik U, Wang M, Rampini S, Wendel U. Multiple acyl-CoA dehydrogenase deficiency (MADD) in a boy with non-ketotic hypoglycemia, hepatomegaly, muscle hypotonia, and cardiomyopathy: detection of N-isovalerylglutaric acid and its monoamide. Helv Pediatr Acta. 1983;38:9-26.
    • (1983) Helv Pediatr Acta , vol.38 , pp. 9-26
    • Niederwieser, A.1    Steinmann, B.2    Exner, U.3    Neuheiser, F.4    Redweik, U.5    Wang, M.6    Rampini, S.7    Wendel, U.8
  • 72
    • 0027233542 scopus 로고
    • Cardiomyopathy in propionic acidemia
    • Massoud AF, Leonard JV. Cardiomyopathy in propionic acidemia. Eur J Pediatr. 1993;152:441-445.
    • (1993) Eur J Pediatr , vol.152 , pp. 441-445
    • Massoud, A.F.1    Leonard, J.V.2
  • 75
    • 0019773985 scopus 로고
    • Congestive cardiomyopathy associated with β-ketothiolase deficiency
    • Henry CG, Strauss AW, Keating JP, Hillman RE. Congestive cardiomyopathy associated with β-ketothiolase deficiency. J Pediatr. 1981;99:754-757.
    • (1981) J Pediatr , vol.99 , pp. 754-757
    • Henry, C.G.1    Strauss, A.W.2    Keating, J.P.3    Hillman, R.E.4
  • 77
    • 0023196410 scopus 로고
    • Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy
    • Edwards MA, Green A, Colli A, Rylance G. Tyrosinaemia type I and hypertrophic obstructive cardiomyopathy. Lancet. 1987;1: 1437-1438.
    • (1987) Lancet , vol.1 , pp. 1437-1438
    • Edwards, M.A.1    Green, A.2    Colli, A.3    Rylance, G.4
  • 78
    • 0023133725 scopus 로고
    • Noonan syndrome
    • Allanson J. Noonan syndrome. J Pediatr. 1987;24:9-13.
    • (1987) J Pediatr , vol.24 , pp. 9-13
    • Allanson, J.1
  • 82
    • 0019353027 scopus 로고
    • Hypertrophic obstructive cardiomyopathy and lentiginosis: A little known neural ectodermal syndrome
    • St. John Sutton MG, Tajik AJ, Giuliani ER, Gordon H, Su WP. Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome. Am J Cardiol. 1981;47: 215-217.
    • (1981) Am J Cardiol , vol.47 , pp. 215-217
    • St John Sutton, M.G.1    Tajik, A.J.2    Giuliani, E.R.3    Gordon, H.4    Su, W.P.5
  • 83
    • 0023774335 scopus 로고
    • Cardiac abnormalities in neurofibromatosis
    • Lin AE, Garver KL. Cardiac abnormalities in neurofibromatosis. Neurofibromatosis. 1988;1:146-151.
    • (1988) Neurofibromatosis , vol.1 , pp. 146-151
    • Lin, A.E.1    Garver, K.L.2
  • 85
    • 0024848088 scopus 로고
    • Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome
    • Ryan CA, Boyle MH, Burggraf GW. Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome. Pediatr Cardiol 1989;10:225-228.
    • (1989) Pediatr Cardiol , vol.10 , pp. 225-228
    • Ryan, C.A.1    Boyle, M.H.2    Burggraf, G.W.3
  • 87
    • 10244231769 scopus 로고
    • Familial cardiomyopathy, telecanthus and associated anomalies
    • Abstract
    • Brunner HG, Kapusta L. Familial cardiomyopathy, telecanthus and associated anomalies. Proc Greenwood Genet Ctr. 1990;9:94. Abstract.
    • (1990) Proc Greenwood Genet Ctr , vol.9 , pp. 94
    • Brunner, H.G.1    Kapusta, L.2
  • 88
    • 0023183039 scopus 로고
    • Hypertrophic cardiomyopathy associated with congenital deaf-mutism
    • Csanady M, Hogye M, Forster T. Hypertrophic cardiomyopathy associated with congenital deaf-mutism. Eur Heart J. 1987;8: 528-534.
    • (1987) Eur Heart J , vol.8 , pp. 528-534
    • Csanady, M.1    Hogye, M.2    Forster, T.3
  • 89
    • 10244268686 scopus 로고
    • Cardiac abnormalities in the Rubenstein-Taybi syndrome
    • Abstract
    • Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubenstein-Taybi syndrome. Proc Greenwood Genet Ctr. 1994;13:113. Abstract.
    • (1994) Proc Greenwood Genet Ctr , vol.13 , pp. 113
    • Stevens, C.A.1    Bhakta, M.G.2
  • 91
    • 0025760926 scopus 로고
    • Microcephalycardiomyopathy: A new autosomal recessive phenotype?
    • Winship IM, Viljoen DL, Leary PM, DeMoor MM. Microcephalycardiomyopathy: a new autosomal recessive phenotype? J Med Genet. 1991;28:619-621.
    • (1991) J Med Genet , vol.28 , pp. 619-621
    • Winship, I.M.1    Viljoen, D.L.2    Leary, P.M.3    DeMoor, M.M.4
  • 94
    • 0030584390 scopus 로고    scopus 로고
    • Costello syndrome: Update on the original cases and commentary
    • Costello JM. Costello syndrome: update on the original cases and commentary. Am J Med Genet. 1996;62:199-201.
    • (1996) Am J Med Genet , vol.62 , pp. 199-201
    • Costello, J.M.1
  • 95
    • 0001962398 scopus 로고
    • Prenatal overgrowth with postnatal growth failure, dysmorphic facies, cutaneous features and cardiomyopathy: Overlap of amicable, facio-cutaneous-skeletal (FCS), and Costello (CS) syndromes
    • Abstract
    • Johnson JP, Fries MH, Norton ME, Rosenblatt R, Feldman G, Yang S, Golabi M. Prenatal overgrowth with postnatal growth failure, dysmorphic facies, cutaneous features and cardiomyopathy: overlap of amicable, facio-cutaneous-skeletal (FCS), and Costello (CS) syndromes. Proc Greenwood Genet Ctr. 1993;12:98. Abstract.
    • (1993) Proc Greenwood Genet Ctr , vol.12 , pp. 98
    • Johnson, J.P.1    Fries, M.H.2    Norton, M.E.3    Rosenblatt, R.4    Feldman, G.5    Yang, S.6    Golabi, M.7
  • 96
    • 0025006395 scopus 로고
    • Developmental retardation with unusual facies, arthritis, and hearing impairment
    • Coffin GS. Developmental retardation with unusual facies, arthritis, and hearing impairment. Dysmorph Clin Genet. 1990;4:103-109.
    • (1990) Dysmorph Clin Genet , vol.4 , pp. 103-109
    • Coffin, G.S.1
  • 97
    • 0017744117 scopus 로고
    • Facio-cardio-renal syndrome: A newly delineated recessive disorder
    • Eastman JR, Bixler D. Facio-cardio-renal syndrome: a newly delineated recessive disorder. Clin Genet. 1977;11:424-430.
    • (1977) Clin Genet , vol.11 , pp. 424-430
    • Eastman, J.R.1    Bixler, D.2
  • 100
    • 0027476346 scopus 로고
    • Marden-Walker phenotype: Spectrum of variability in three infants
    • Ramer JC, Frankel CA, Ladda RL. Marden-Walker phenotype: spectrum of variability in three infants. Am J Med Genet. 1993; 45:285-291.
    • (1993) Am J Med Genet , vol.45 , pp. 285-291
    • Ramer, J.C.1    Frankel, C.A.2    Ladda, R.L.3
  • 101
    • 0021711859 scopus 로고
    • Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy
    • Sussman MD, Kelly T, Rosenbaum KN, Balian G. Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy. J Orthop Res. 1984;2:339-345.
    • (1984) J Orthop Res , vol.2 , pp. 339-345
    • Sussman, M.D.1    Kelly, T.2    Rosenbaum, K.N.3    Balian, G.4
  • 103
    • 10244275038 scopus 로고
    • A new (?) X-linked connective tissue disorder with joint hyperextensibility, mild cutis laxa, skeletal anomalies and idiopathic hypertrophic subaortic stenosis
    • Char F, Readinger RI, McConnell JR, McCoy JR. A new (?) X-linked connective tissue disorder with joint hyperextensibility, mild cutis laxa, skeletal anomalies and idiopathic hypertrophic subaortic stenosis. Proc Greenwood Genet Ctr. 1987;6:174-177.
    • (1987) Proc Greenwood Genet Ctr , vol.6 , pp. 174-177
    • Char, F.1    Readinger, R.I.2    McConnell, J.R.3    McCoy, J.R.4
  • 104
    • 0027944925 scopus 로고
    • Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?
    • Bird LM, Krous HF, Eichenfeld LF, Swalwell CI, Jones MC. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? Am J Med Genet. 1994;53:141-148.
    • (1994) Am J Med Genet , vol.53 , pp. 141-148
    • Bird, L.M.1    Krous, H.F.2    Eichenfeld, L.F.3    Swalwell, C.I.4    Jones, M.C.5
  • 105
    • 0023714278 scopus 로고
    • Simpson-Golabi-Behmel syndrome: Follow-up of the Michigan family
    • Opitz JM, Hermann J, Gilbert EF, Matalon R. Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. Am J Med Genet. 1988;30:301-308.
    • (1988) Am J Med Genet , vol.30 , pp. 301-308
    • Opitz, J.M.1    Hermann, J.2    Gilbert, E.F.3    Matalon, R.4
  • 106
    • 0022602078 scopus 로고
    • X-linked intellectual handicap and precocious puberty with obesity in carrier females
    • Hockey A. X-linked intellectual handicap and precocious puberty with obesity in carrier females. Am J Med Genet. 1986;23:127-137.
    • (1986) Am J Med Genet , vol.23 , pp. 127-137
    • Hockey, A.1
  • 108
    • 0024370324 scopus 로고
    • Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum
    • Fryns JP, Chrzanowska K, Van den Berghe H. Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum. J Med Genet. 1989;26:520-534.
    • (1989) J Med Genet , vol.26 , pp. 520-534
    • Fryns, J.P.1    Chrzanowska, K.2    Van den Berghe, H.3
  • 109
    • 0018969627 scopus 로고
    • Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly
    • Jennings MT, Hall JG, Kukolich M. Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly. Am J Med Genet. 1980;5:271-276.
    • (1980) Am J Med Genet , vol.5 , pp. 271-276
    • Jennings, M.T.1    Hall, J.G.2    Kukolich, M.3
  • 110
    • 0021924614 scopus 로고
    • A familial dilated cardiomyopathy associated with cataracts and hip-spine disease
    • Krasnow N, Qazi QH, Yermakov V. A familial dilated cardiomyopathy associated with cataracts and hip-spine disease. Chest. 1985; 87:56-61.
    • (1985) Chest , vol.87 , pp. 56-61
    • Krasnow, N.1    Qazi, Q.H.2    Yermakov, V.3
  • 111
    • 0025132271 scopus 로고
    • Ulnar agenesis and endocardial fibroelastosis
    • Maries SL, Chudley AE. Ulnar agenesis and endocardial fibroelastosis. Am J Med Genet. 1990;37:258-260.
    • (1990) Am J Med Genet , vol.37 , pp. 258-260
    • Maries, S.L.1    Chudley, A.E.2
  • 112
    • 0023841013 scopus 로고
    • Cardiomyopathy with arrhythmia and ectodermal dysplasia: A previously unreported association
    • Hammill WH, Fyfe DA, Gillette PC, Taylor A, Dobson RL, Thompson RD. Cardiomyopathy with arrhythmia and ectodermal dysplasia: a previously unreported association. Am Heart J. 1988; 115:373-378.
    • (1988) Am Heart J , vol.115 , pp. 373-378
    • Hammill, W.H.1    Fyfe, D.A.2    Gillette, P.C.3    Taylor, A.4    Dobson, R.L.5    Thompson, R.D.6
  • 113
    • 0019156418 scopus 로고
    • Familial cardiomyopathy, hypogonadism, and collagenoma
    • Sacks HN, Crawley S, Ward JA, Fine RM. Familial cardiomyopathy, hypogonadism, and collagenoma. Ann Intern Med. 1980;93: 813-817.
    • (1980) Ann Intern Med , vol.93 , pp. 813-817
    • Sacks, H.N.1    Crawley, S.2    Ward, J.A.3    Fine, R.M.4
  • 114
    • 85035177771 scopus 로고
    • Unknown case: Mental retardation, craniosynostosis, multiple congenital anomalies, hypertrophic cardiomyopathy
    • August Mount Tremblant, Quebec, Canada
    • Morris CA. Unknown case: mental retardation, craniosynostosis, multiple congenital anomalies, hypertrophic cardiomyopathy. Presented at the David W. Smith Workshop on Malformations and Morphogenesis; August 1993; Mount Tremblant, Quebec, Canada.
    • (1993) David W. Smith Workshop on Malformations and Morphogenesis
    • Morris, C.A.1
  • 115
    • 0027529294 scopus 로고
    • Proteus syndrome with cardiomyopathy and a myocardial mass
    • Shaw C, Bourke J, Dixon J. Proteus syndrome with cardiomyopathy and a myocardial mass. Am J Med Genet. 1993;46:145-148.
    • (1993) Am J Med Genet , vol.46 , pp. 145-148
    • Shaw, C.1    Bourke, J.2    Dixon, J.3
  • 116
    • 0027502493 scopus 로고
    • The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin
    • Cziner DG, Levin RI. The cardiomyopathy of Duchenne's muscular dystrophy and the function of dystrophin. Med Hypotheses. 1993; 40:169-173.
    • (1993) Med Hypotheses , vol.40 , pp. 169-173
    • Cziner, D.G.1    Levin, R.I.2
  • 117
    • 0026754688 scopus 로고
    • The heart in Duchenne muscular dystrophy: A noninvasive longitudinal study
    • Backman E, Nylander E. The heart in Duchenne muscular dystrophy: a noninvasive longitudinal study. Eur Heart J. 1992;13: 1239-1244.
    • (1992) Eur Heart J , vol.13 , pp. 1239-1244
    • Backman, E.1    Nylander, E.2
  • 119
    • 0030051194 scopus 로고    scopus 로고
    • Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
    • Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP. Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med. 1996;334:362-366.
    • (1996) N Engl J Med , vol.334 , pp. 362-366
    • Fadic, R.1    Sunada, Y.2    Waclawik, A.J.3    Buck, S.4    Lewandoski, P.J.5    Campbell, K.P.6    Lotz, B.P.7
  • 121
  • 124
    • 0028049493 scopus 로고
    • Left ventricular structure and function by echocardiography in congenital muscular dystrophy
    • 123a.Cil E, Topaloglu H, Caglar M, Qzme S. Left ventricular structure and function by echocardiography in congenital muscular dystrophy. Brain Dev. 1994;16:301-303.
    • (1994) Brain Dev , vol.16 , pp. 301-303
    • Cil, E.1    Topaloglu, H.2    Caglar, M.3    Qzme, S.4
  • 127
    • 0023723566 scopus 로고
    • Nemaline myopathy associated with hypertrophic cardiomyopathy
    • Van Antwerpen CL, Gospe SM, Dentinger MP. Nemaline myopathy associated with hypertrophic cardiomyopathy. Pediatr Neurol. 1988;4:306-308.
    • (1988) Pediatr Neurol , vol.4 , pp. 306-308
    • Van Antwerpen, C.L.1    Gospe, S.M.2    Dentinger, M.P.3
  • 130
    • 0021354392 scopus 로고
    • Friedreich's ataxia: A clinical review with neurophysiological and echocardiographic findings
    • Ackroyd RS, Finnegan JA, Green SH. Friedreich's ataxia: a clinical review with neurophysiological and echocardiographic findings. Arch Dis Child. 1984;59:217-221.
    • (1984) Arch Dis Child , vol.59 , pp. 217-221
    • Ackroyd, R.S.1    Finnegan, J.A.2    Green, S.H.3
  • 134
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326:1108-1114.
    • (1992) N Engl J Med , vol.326 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, A.2    Hwang, D.S.3    Levi, T.4    McKenna, W.5    Seidman, C.E.6    Seidman, J.G.7
  • 137
    • 0005705795 scopus 로고
    • Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
    • Abstract
    • MacRae C, Ghaisas N, McGarry K, McKenna W, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. Circulation. 1994;90(pt 2):I-M. Abstract.
    • (1994) Circulation , vol.90 , Issue.PT 2
    • MacRae, C.1    Ghaisas, N.2    McGarry, K.3    McKenna, W.4    Seidman, J.G.5    Seidman, C.E.6
  • 140
    • 0026642655 scopus 로고
    • Clinical profile and outcome of restrictive cardiomyopathy in children
    • Lewis AB. Clinical profile and outcome of restrictive cardiomyopathy in children. Am Heart J. 1992;123:1589-1593.
    • (1992) Am Heart J , vol.123 , pp. 1589-1593
    • Lewis, A.B.1
  • 141
    • 0029038349 scopus 로고
    • Idiopathic restrictive cardiomyopathy in childhood: Diagnostic features and clinical course
    • Cetta F, O'Leary PW, Seward JB, Driscoll DJ. Idiopathic restrictive cardiomyopathy in childhood: diagnostic features and clinical course. Mayo Clin Proc. 1995;70:634-640.
    • (1995) Mayo Clin Proc , vol.70 , pp. 634-640
    • Cetta, F.1    O'Leary, P.W.2    Seward, J.B.3    Driscoll, D.J.4
  • 142
    • 0019226947 scopus 로고
    • Uhl's anomaly with rudimentary pulmonary valve leaflets: A clinical, hemodynamic, angiographic, and pathologic study
    • Kaul U, Arora R, Rani S. Uhl's anomaly with rudimentary pulmonary valve leaflets: a clinical, hemodynamic, angiographic, and pathologic study. Am Heart J. 1980;100:673-677.
    • (1980) Am Heart J , vol.100 , pp. 673-677
    • Kaul, U.1    Arora, R.2    Rani, S.3
  • 143
    • 0026703199 scopus 로고
    • Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy
    • Gallo P, d'Amati G, Pelliccia F. Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy. Hum Pathol. 1992;23:948-952.
    • (1992) Hum Pathol , vol.23 , pp. 948-952
    • Gallo, P.1    D'Amati, G.2    Pelliccia, F.3
  • 145
    • 0025106446 scopus 로고
    • Isolated noncompaction of the left ventricular myocardium: A study of eight cases
    • Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of the left ventricular myocardium: a study of eight cases. Circulation. 1990;82:507-513.
    • (1990) Circulation , vol.82 , pp. 507-513
    • Chin, T.K.1    Perloff, J.K.2    Williams, R.G.3    Jue, K.4    Mohrmann, R.5
  • 147
    • 0023215347 scopus 로고
    • X-linked dilated cardiomyopathy
    • Berko BA, Swift M. X-linked dilated cardiomyopathy. N Engl J Med. 1987;316:1186-1191.
    • (1987) N Engl J Med , vol.316 , pp. 1186-1191
    • Berko, B.A.1    Swift, M.2
  • 148
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy, molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
    • Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M. X-linked dilated cardiomyopathy, molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation. 1993;87:1854-1865.
    • (1993) Circulation , vol.87 , pp. 1854-1865
    • Towbin, J.A.1    Hejtmancik, J.F.2    Brink, P.3    Gelb, B.4    Zhu, X.M.5    Chamberlain, J.S.6    McCabe, E.R.7    Swift, M.8
  • 151
    • 0017383268 scopus 로고
    • Cardiovascular anomalies in Noonan's syndrome
    • Pearl W. Cardiovascular anomalies in Noonan's syndrome. Chest. 1977;71:677-679.
    • (1977) Chest , vol.71 , pp. 677-679
    • Pearl, W.1
  • 152
    • 0016711224 scopus 로고
    • Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome: Report of two cases
    • Hirsch HD, Gelband H, Garcia O, Gottlieb S, Tamer DM. Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome: report of two cases. Circulation. 1975;52:1161-1165.
    • (1975) Circulation , vol.52 , pp. 1161-1165
    • Hirsch, H.D.1    Gelband, H.2    Garcia, O.3    Gottlieb, S.4    Tamer, D.M.5
  • 153
    • 0024205779 scopus 로고
    • Cardio-facial-cutaneous syndrome: A syndrome distinct from Noonan syndrome
    • Verlos A, LeMerrer M, Soyeur D. Cardio-facial-cutaneous syndrome: a syndrome distinct from Noonan syndrome. Ann Genet. 1988;31:230-234.
    • (1988) Ann Genet , vol.31 , pp. 230-234
    • Verlos, A.1    LeMerrer, M.2    Soyeur, D.3
  • 155
    • 0018139687 scopus 로고
    • An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy
    • Sanyal SK, Johnson WW, Thapar MK, Pitner SE. An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy. Circulation. 1978;57:1122-1129.
    • (1978) Circulation , vol.57 , pp. 1122-1129
    • Sanyal, S.K.1    Johnson, W.W.2    Thapar, M.K.3    Pitner, S.E.4
  • 156
    • 0013249750 scopus 로고
    • The electrocardiogram in progressive muscular dystrophy
    • Manning GW, Cropp GJ. The electrocardiogram in progressive muscular dystrophy. Br Heart J. 1958;20:416-420.
    • (1958) Br Heart J , vol.20 , pp. 416-420
    • Manning, G.W.1    Cropp, G.J.2
  • 157
    • 0014056078 scopus 로고
    • The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy
    • Perloff JK, Roberts WC. The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. Am J Med. 1967;42:179-188.
    • (1967) Am J Med , vol.42 , pp. 179-188
    • Perloff, J.K.1    Roberts, W.C.2
  • 159
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988;16:11141-11156.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.T.5
  • 160
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990;86:45-48.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 162
    • 0027600733 scopus 로고
    • Backer muscular dystrophy with early manifestation of left heart failure
    • Miyashita H, Ikeda U, Shimada K, Natsume T, Arahata K. Backer muscular dystrophy with early manifestation of left heart failure. Intern Med. 1993;32:408-411.
    • (1993) Intern Med , vol.32 , pp. 408-411
    • Miyashita, H.1    Ikeda, U.2    Shimada, K.3    Natsume, T.4    Arahata, K.5
  • 165
    • 0023097550 scopus 로고
    • Acute pulmonary edema as the inaugural symptom of Becker's muscular dystrophy in a 19-year-old patient
    • Borgeat A, Goy JJ, Sigwart U. Acute pulmonary edema as the inaugural symptom of Becker's muscular dystrophy in a 19-year-old patient. Clin Cardiol. 1987;10:127-129.
    • (1987) Clin Cardiol , vol.10 , pp. 127-129
    • Borgeat, A.1    Goy, J.J.2    Sigwart, U.3
  • 166
    • 0018488057 scopus 로고
    • Hypertrophic cardiomyopathy: A discussion of nomenclature
    • Maron BJ, Epstein SE. Hypertrophic cardiomyopathy: a discussion of nomenclature. Am J Cardiol. 1979;43:1242-1244.
    • (1979) Am J Cardiol , vol.43 , pp. 1242-1244
    • Maron, B.J.1    Epstein, S.E.2
  • 167
    • 0020646360 scopus 로고
    • Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: Two dimensional echocardiographic analysis
    • Ciro E, Nichols PF, Maron BJ. Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: two dimensional echocardiographic analysis. Circulation. 1983;67:1227-1233.
    • (1983) Circulation , vol.67 , pp. 1227-1233
    • Ciro, E.1    Nichols, P.F.2    Maron, B.J.3
  • 168
    • 0019442765 scopus 로고
    • Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: A wide angle, two dimensional echocardiographic study of 125 patients
    • Maron BJ, Gottdiener JS, Epstein SE. Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: a wide angle, two dimensional echocardiographic study of 125 patients. Am J Cardiol. 1981;48:418-428.
    • (1981) Am J Cardiol , vol.48 , pp. 418-428
    • Maron, B.J.1    Gottdiener, J.S.2    Epstein, S.E.3
  • 169
    • 0018675177 scopus 로고
    • Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): Ventriculographic and echocardiographic features in 30 patients
    • Yamaguchi H, Ishimura T, Nishiyama S, Nagasaki F, Nakanishi S, Takatsu F, Nishijo T, Umeda T, Machii K. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol. 1979;44:401-412.
    • (1979) Am J Cardiol , vol.44 , pp. 401-412
    • Yamaguchi, H.1    Ishimura, T.2    Nishiyama, S.3    Nagasaki, F.4    Nakanishi, S.5    Takatsu, F.6    Nishijo, T.7    Umeda, T.8    Machii, K.9
  • 171
    • 0024522726 scopus 로고
    • Hypertrophic cardiomyopathy in the elderly: Distinctions from the young based on cardiac shape
    • Lever HM, Karam RF, Currie PJ, Healy BP. Hypertrophic cardiomyopathy in the elderly: distinctions from the young based on cardiac shape. Circulation. 1989;79:580-589.
    • (1989) Circulation , vol.79 , pp. 580-589
    • Lever, H.M.1    Karam, R.F.2    Currie, P.J.3    Healy, B.P.4
  • 172
    • 0011896933 scopus 로고
    • Pathology of cardiomyopathies in childhood
    • Silver MM, Silver MD. Pathology of cardiomyopathies in childhood. Prog Pediatr Cardiol. 1992;1:8-39.
    • (1992) Prog Pediatr Cardiol , vol.1 , pp. 8-39
    • Silver, M.M.1    Silver, M.D.2
  • 173
    • 0021346026 scopus 로고
    • Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by M-mode and two dimensional echocardiography
    • Maron BJ, Nichols PF, Pickle LW, Wesley YE, Mulvihill JJ. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two dimensional echocardiography. Am J Cardiol. 1984;53:1087-1094.
    • (1984) Am J Cardiol , vol.53 , pp. 1087-1094
    • Maron, B.J.1    Nichols, P.F.2    Pickle, L.W.3    Wesley, Y.E.4    Mulvihill, J.J.5
  • 174
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations
    • Fananapazir L, Epstein ND. Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations. Circulation. 1994;89:22-32.
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L.1    Epstein, N.D.2
  • 175
    • 0023130164 scopus 로고
    • Hypertrophic cardiomyopathy, I: Interrelations of clinical manifestations, pathophysiology, and therapy
    • Maron BJ, Bonow RO, Cannon RO III, Leon MB, Epstein SE. Hypertrophic cardiomyopathy, I: interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med. 1987;316:780-789.
    • (1987) N Engl J Med , vol.316 , pp. 780-789
    • Maron, B.J.1    Bonow, R.O.2    Cannon III, R.O.3    Leon, M.B.4    Epstein, S.E.5
  • 176
    • 0021129260 scopus 로고
    • Hypertrophic cardiomyopathy: An important cause of sudden death
    • McKenna WJ, Deanfield JE. Hypertrophic cardiomyopathy: an important cause of sudden death. Arch Dis Child. 1984;59:971-975.
    • (1984) Arch Dis Child , vol.59 , pp. 971-975
    • McKenna, W.J.1    Deanfield, J.E.2
  • 179
    • 0028812128 scopus 로고
    • Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
    • Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 1995;56:151-157.
    • (1995) Am J Hum Genet , vol.56 , pp. 151-157
    • Muntoni, F.1    Melis, M.A.2    Ganau, A.3    Dubowitz, V.4
  • 182
    • 0026467734 scopus 로고
    • Myocardial evidence of dystrophin mosaic in a Duchenne muscular dystrophy carrier
    • Letter
    • Schmidt-Achert M, Fischer P, Pongratz D. Myocardial evidence of dystrophin mosaic in a Duchenne muscular dystrophy carrier. Lancet. 1992;340:1235-1236. Letter.
    • (1992) Lancet , vol.340 , pp. 1235-1236
    • Schmidt-Achert, M.1    Fischer, P.2    Pongratz, D.3
  • 183
    • 10244229288 scopus 로고
    • Endomyocardial biopsies in cardiomyopathies of children
    • Lurie PR. Endomyocardial biopsies in cardiomyopathies of children. Prog Pediatr Cardiol. 1992;1:71-81.
    • (1992) Prog Pediatr Cardiol , vol.1 , pp. 71-81
    • Lurie, P.R.1
  • 184
    • 0027392077 scopus 로고
    • Efficacy of 100 consecutive right ventricular endomyocardial biopsies in pediatric patients using the right internal jugular venous approach
    • Shaddy RE, Bullock EA. Efficacy of 100 consecutive right ventricular endomyocardial biopsies in pediatric patients using the right internal jugular venous approach. Pediatr Cardiol. 1993;14:5-8.
    • (1993) Pediatr Cardiol , vol.14 , pp. 5-8
    • Shaddy, R.E.1    Bullock, E.A.2
  • 185
    • 0023717126 scopus 로고
    • Value of endomyocardial biopsy in infants, children, and adolescents with dilated or hypertrophic cardiomyopathy and myocarditis
    • Leatherbury L, Chandra RS, Shapiro SR, Perry LW. Value of endomyocardial biopsy in infants, children, and adolescents with dilated or hypertrophic cardiomyopathy and myocarditis. J Am Coll Cardiol 1988;12:1547-1554.
    • (1988) J Am Coll Cardiol , vol.12 , pp. 1547-1554
    • Leatherbury, L.1    Chandra, R.S.2    Shapiro, S.R.3    Perry, L.W.4
  • 186
    • 0025173756 scopus 로고
    • Safety and utility of endomyocardial biopsy in infants, children, and adolescents: A review of 66 procedures in 53 patients
    • Yoshizato T, Edwards WD, Alboliras ET, Hagler DJ, Driscoll DJ. Safety and utility of endomyocardial biopsy in infants, children, and adolescents: a review of 66 procedures in 53 patients. J Am Coll Cardiol. 1990;15:436-442.
    • (1990) J Am Coll Cardiol , vol.15 , pp. 436-442
    • Yoshizato, T.1    Edwards, W.D.2    Alboliras, E.T.3    Hagler, D.J.4    Driscoll, D.J.5
  • 187
    • 0027933823 scopus 로고
    • Infantile dilated cardiomyopathy: Relation of outcome to left ventricular mechanics, hemodynamics, and histology at the time of presentation
    • Matitiau A, Perez-Atayde A, Sanders SP, Sluysman T, Parness IA, Spevak PJ, Colan SD. Infantile dilated cardiomyopathy: relation of outcome to left ventricular mechanics, hemodynamics, and histology at the time of presentation. Circulation. 1994;90:1310-1318.
    • (1994) Circulation , vol.90 , pp. 1310-1318
    • Matitiau, A.1    Perez-Atayde, A.2    Sanders, S.P.3    Sluysman, T.4    Parness, I.A.5    Spevak, P.J.6    Colan, S.D.7
  • 188
    • 0020080687 scopus 로고
    • Myocardial disarray, a critical review
    • Becker AE, Caruso G. Myocardial disarray, a critical review. Br Heart J. 1982;47:527-538.
    • (1982) Br Heart J , vol.47 , pp. 527-538
    • Becker, A.E.1    Caruso, G.2
  • 189
    • 0017651972 scopus 로고
    • Muscle fiber disarray in common heart diseases
    • van der Bel-Kahn J. Muscle fiber disarray in common heart diseases. Am J Cardiol. 1977;40:355-364.
    • (1977) Am J Cardiol , vol.40 , pp. 355-364
    • Van der Bel-Kahn, J.1
  • 190
    • 0017614146 scopus 로고
    • Isometric cardiac contraction, a possible cause of the disorganized myocardial pattern of idiopathic subaortic stenosis
    • Bulkley BH, Weisfeldt ML, Hutchins GM. Isometric cardiac contraction, a possible cause of the disorganized myocardial pattern of idiopathic subaortic stenosis. N Engl J Med. 1977;296:135-139.
    • (1977) N Engl J Med , vol.296 , pp. 135-139
    • Bulkley, B.H.1    Weisfeldt, M.L.2    Hutchins, G.M.3
  • 191
    • 0024551414 scopus 로고
    • Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
    • Corr PB, Creer MH, Yamada KA, Saffitz JE, Sobel BE. Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest. 1989;83:927-936.
    • (1989) J Clin Invest , vol.83 , pp. 927-936
    • Corr, P.B.1    Creer, M.H.2    Yamada, K.A.3    Saffitz, J.E.4    Sobel, B.E.5
  • 193
    • 0023253686 scopus 로고
    • Therapy of mitochondrial disorders
    • Prezyrembel H. Therapy of mitochondrial disorders. J Inherit Metab Dis. 1987;10:129-146.
    • (1987) J Inherit Metab Dis , vol.10 , pp. 129-146
    • Prezyrembel, H.1
  • 194
    • 0025117713 scopus 로고
    • Neonatal hemodialysis: Effective therapy for the encephalopathy of inborn errors of metabolism
    • Rutledge SL, Havens PL, Haymond MW, McLean RH, Kan JS, Brusilow SW. Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. J Pediatr. 1990; 116:125-128.
    • (1990) J Pediatr , vol.116 , pp. 125-128
    • Rutledge, S.L.1    Havens, P.L.2    Haymond, M.W.3    McLean, R.H.4    Kan, J.S.5    Brusilow, S.W.6
  • 196
    • 0027938012 scopus 로고
    • Autopsies and the pediatric intensive care unit
    • Riggs D, Weibley RE. Autopsies and the pediatric intensive care unit. Pediatr Clin North Am. 1994;41:1383-1393.
    • (1994) Pediatr Clin North Am , vol.41 , pp. 1383-1393
    • Riggs, D.1    Weibley, R.E.2
  • 197
    • 0027752706 scopus 로고
    • Advances in genetic diagnosis
    • Korf BR. Advances in genetic diagnosis. Curr Opin Pediatr. 1993;5:720-727.
    • (1993) Curr Opin Pediatr , vol.5 , pp. 720-727
    • Korf, B.R.1
  • 198
    • 0028267690 scopus 로고
    • Molecular genetic approaches to the study of human cardiovascular disease
    • Dietz HC, Pyeritz RE. Molecular genetic approaches to the study of human cardiovascular disease. Annu Rev Physiol. 1994;56:763-796.
    • (1994) Annu Rev Physiol , vol.56 , pp. 763-796
    • Dietz, H.C.1    Pyeritz, R.E.2
  • 199
    • 0026023968 scopus 로고
    • 3-Hydroxydicarboxylic aciduria due to long-chain-3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: Protective effect of medium-chain triglyceride treatment
    • Duran M, Wanders RJA, de Jager JP, Dorland L, Bruinvis L, Ketting D, Ijlst L, van Sprang FS. 3-Hydroxydicarboxylic aciduria due to long-chain-3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr. 1991;150:190-195.
    • (1991) Eur J Pediatr , vol.150 , pp. 190-195
    • Duran, M.1    Wanders, R.J.A.2    De Jager, J.P.3    Dorland, L.4    Bruinvis, L.5    Ketting, D.6    Ijlst, L.7    Van Sprang, F.S.8
  • 200
    • 0019830914 scopus 로고
    • Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: A treatable cardiomyopathy
    • Tripp ME, Katcher ML, Peters HA, Gilbert EF, Arya S, Hodach RJ, Shug AL. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. N Engl J Med. 1981;305:385-390.
    • (1981) N Engl J Med , vol.305 , pp. 385-390
    • Tripp, M.E.1    Katcher, M.L.2    Peters, H.A.3    Gilbert, E.F.4    Arya, S.5    Hodach, R.J.6    Shug, A.L.7
  • 201
    • 0027938096 scopus 로고
    • Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: Successful treatment with pantothenic acid
    • Ostman-Smith I, Brown G, Johnson A, Land JM. Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. Br Heart J. 1994;72:349-353.
    • (1994) Br Heart J , vol.72 , pp. 349-353
    • Ostman-Smith, I.1    Brown, G.2    Johnson, A.3    Land, J.M.4
  • 203
    • 0021683336 scopus 로고
    • Bone marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): Biochemical and clinical status 24 months after transplantation
    • Krivit W, Pierpont ME, Ayaz K, Tsai M, Ramsay NK, Kersey JH, Weisdorf S, Sibley R, Snover R, McGovern MM. Bone marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): biochemical and clinical status 24 months after transplantation. N Engl J Med. 1984;311:1606-1611.
    • (1984) N Engl J Med , vol.311 , pp. 1606-1611
    • Krivit, W.1    Pierpont, M.E.2    Ayaz, K.3    Tsai, M.4    Ramsay, N.K.5    Kersey, J.H.6    Weisdorf, S.7    Sibley, R.8    Snover, R.9    McGovern, M.M.10
  • 204
    • 0026511701 scopus 로고
    • Hypertrophic cardiomyopathy in mucopolysaccharidoses: Regression after bone marrow transplantation
    • Vinallonga X, Sanz N, Balaguer A, Miro L, Ortega JJ, Casaldaliga J. Hypertrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation. Pediatr Cardiol. 1992;13:107-109.
    • (1992) Pediatr Cardiol , vol.13 , pp. 107-109
    • Vinallonga, X.1    Sanz, N.2    Balaguer, A.3    Miro, L.4    Ortega, J.J.5    Casaldaliga, J.6
  • 205
    • 0029117050 scopus 로고
    • Cardiac involvement in mucopolysaccharidoses: Effect of allogenic bone marrow transplantation
    • Gatzoulis MA, Vellodi A, Redington AN. Cardiac involvement in mucopolysaccharidoses: effect of allogenic bone marrow transplantation. Arch Dis Child. 1995;73:254-260.
    • (1995) Arch Dis Child , vol.73 , pp. 254-260
    • Gatzoulis, M.A.1    Vellodi, A.2    Redington, A.N.3
  • 206
    • 85047679319 scopus 로고
    • Cardiomyopathy and abnormal mitochondrial function
    • Marin-Garcia J, Goldenthal MJ. Cardiomyopathy and abnormal mitochondrial function. Cardiovasc Res. 1994;28:456-463.
    • (1994) Cardiovasc Res , vol.28 , pp. 456-463
    • Marin-Garcia, J.1    Goldenthal, M.J.2
  • 207
    • 0028040626 scopus 로고
    • Genetic disorders of mitochondrial fatty acid oxidation
    • Stanley CA, Hale DE. Genetic disorders of mitochondrial fatty acid oxidation. Curr Opin Pediatr. 1994;6:476-481.
    • (1994) Curr Opin Pediatr , vol.6 , pp. 476-481
    • Stanley, C.A.1    Hale, D.E.2
  • 209
    • 2342587338 scopus 로고
    • Hypertrophic cardiomyopathy: How understanding molecular genetics helps explain clinical characteristics and guides management
    • Jarcho JA. Hypertrophic cardiomyopathy: how understanding molecular genetics helps explain clinical characteristics and guides management. Cardiol Rev. 1993;1:108-118.
    • (1993) Cardiol Rev , vol.1 , pp. 108-118
    • Jarcho, J.A.1
  • 210
    • 0029166817 scopus 로고
    • Recent advances in the molecular genetics of hypertrophic cardiomyopathy
    • Marian AJ, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation. 1995;92:1336-1347.
    • (1995) Circulation , vol.92 , pp. 1336-1347
    • Marian, A.J.1    Roberts, R.2
  • 211
    • 0028935226 scopus 로고
    • Sudden cardiac death in hypertrophic cardiomyopathy: Variability in phenotypic expression of β-myosin heavy chain mutations
    • Marian AJ, Mares A Jr, Kelly DP, Yu QT, Abchee AB, Hill R, Roberts R. Sudden cardiac death in hypertrophic cardiomyopathy: variability in phenotypic expression of β-myosin heavy chain mutations. Eur Heart J. 1995;16:368-376.
    • (1995) Eur Heart J , vol.16 , pp. 368-376
    • Marian, A.J.1    Mares Jr., A.2    Kelly, D.P.3    Yu, Q.T.4    Abchee, A.B.5    Hill, R.6    Roberts, R.7
  • 212
    • 0028883249 scopus 로고
    • Gene therapy for cardiovascular disease
    • Nabel RG. Gene therapy for cardiovascular disease. Circulation. 1995;91:541-548.
    • (1995) Circulation , vol.91 , pp. 541-548
    • Nabel, R.G.1
  • 213
    • 0028215227 scopus 로고
    • Formation of nascent intercalated disks between grafted fetal cardiomyocytes and host myocardium
    • Soonpaa MH, Koh GY, Klug MG, Field LJ. Formation of nascent intercalated disks between grafted fetal cardiomyocytes and host myocardium. Science. 1994;264:98-101.
    • (1994) Science , vol.264 , pp. 98-101
    • Soonpaa, M.H.1    Koh, G.Y.2    Klug, M.G.3    Field, L.J.4
  • 214
    • 0027279257 scopus 로고
    • Differentiation and long-term survival of C2C12 myoblast grafts in heart
    • Koh GY, Klug MG, Soonpas MH, Field LJ. Differentiation and long-term survival of C2C12 myoblast grafts in heart. J Clin Invest. 1993;92:1548-1554.
    • (1993) J Clin Invest , vol.92 , pp. 1548-1554
    • Koh, G.Y.1    Klug, M.G.2    Soonpas, M.H.3    Field, L.J.4
  • 215
    • 0028886936 scopus 로고
    • Gene therapy: A novel form of drug delivery
    • Blau HM, Springer ML. Gene therapy: a novel form of drug delivery. N Engl J Med. 1995;333:1204-1207.
    • (1995) N Engl J Med , vol.333 , pp. 1204-1207
    • Blau, H.M.1    Springer, M.L.2


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