Nonmalformative cardiovascular pathology in infants and children

Pediatric and Developmental Pathology

Volumn 2, Issue 6, 1999, Pages 499-530

  Gilbert Barness, Enid ^a,c   Barness, Lewis A ^b  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

^c TAMPA GENERAL HOSPITAL   (United States)

Author keywords

Arrhythmias; Cardiomyopathy; Metabolic; Myopathy; Storage

Indexed keywords

CARDIOMYOPATHY; CHILD; CHILDHOOD DISEASE; CONNECTIVE TISSUE DISEASE; DISEASE CLASSIFICATION; HEART ARRHYTHMIA; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; INFANT; MATERNAL DISEASE; METABOLIC DISORDER; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; REVIEW;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CARDIOMYOPATHIES; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; CONNECTIVE TISSUE DISEASES; ENDOCARDIAL FIBROELASTOSIS; HUMANS; INFANT; INFANT, NEWBORN; MARFAN SYNDROME; METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; MUSCULAR DYSTROPHY, DUCHENNE; MYOCARDIUM;

EID: 0032733193     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100249900157     Document Type: Review

References (316)

1. Richardson P, Rapporteur W, McKenna MD, et al. Report of the WHO/ISFC task force on definition and classification of cardiomyopathies. Circulation 1996;93:841-842.
2. Gilbert-Barness E. Cardiovascular disorders. In: Gilbert-Barness E, ed. Potter's Pathology of the Fetus and Infant. St. Louis: Mosby, 1997;648-711.
3. Woods JR, Plessinger MA. Maternal, placental and fetal pathophysiology of cocaine exposure during pregnancy. Clin Obstet Gynecol 1993;36:267-278.
4. Griffin ML, Hernandez A, Martin TC, et al. Cardiomyopathy. J Am Coll Cardiol 1988;11:139-344.
5. Arola A, Tuominen J, Ruuskanen O, Jokinen E. Idiopathic dilated cardiomyopathy in children: prognostic indicators and outcome. Pediatrics 1998;101:369-376.
6. Ino T, Benson LN, Freedom RM, et al: Natural history and prognostic risk factors in endocardial fibroelastosis. Am J Cardiol 1988;62:431-434.
7. Neustein HB, Lurie PR, Fugita M. Endocardial fibroelastosis found on transvascular endomyocardial biopsy in children. Arch Pathol Lab Med 1979;103:214-219.
8. Muntoni F, Cau M, Ganau A, et al. Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993;329: 921-925.
9. Leiden JM. The genetics of dilated cardiomyopathy -emerging clues to the puzzle. N Engl J Med 1997;337:1080-1083.
10. Abreo K, Oberley TD, Gilbert EF, et al. Clinicopathological conference: a 29-year-old man with recurrent episodes of fever, abdominal pain, and vomiting. Am J Med Genet 1984;18:249-264.
11. Gilbert EF. The effects of metabolic diseases on the cardiovascular system. Am J Cardiovasc Pathol 1987;1: 189-213.
12. Ferrans VJ, Boyce SW. Metabolic and familial diseases. In: Silver MD, ed. Cardiovascular Pathology, 2nd ed. New York: Churchill Livingstone, 1991;945-1004.
13. Henry CG, Strauss AW, Keating JP, et al. Congestive cardiomyopathy associated with β-ketothiolase deficiency. J Pediatr 1981;99:754-757.
14. Chaplin AJ. Histopathological occurrence and characterization of calcium oxalate: a review. J Clin Pathol 1977;30: 800-811.
15. Tonkin AM, Mond HG, Mathew TH, Solman JG. Primary oxalosis with myocardial involvement and heart block. Med J Aust 1976;1:873-874.
16. Blackburn WE, McRoberts JW, Bhathena D, et al. Severe vascular complications in oxalosis after bilateral nephrectomy. Ann Intern Med 1975;82:44-46.
17. Fayemi AO, Ali M, Braun EV. Oxalosis in hemodialysis patients. A pathologic study of 80 cases. Arch Pathol Lab Med 1979;103:58-62.
18. Servidei S, Bertini E, DiMauro S. Hereditary metabolic cardiomypathies. Adv Pediatr 1994;41:1-32.
19. Dincsoy MY, Dincsoy HP, Kessler AD, et al. Generalized glycogenosis and associated endocardial fibroelastosis. Report of 3 cases with biochemical studies. J Pediatr 1965;67:728.
20. Hers HG, DeBarsy T. Type II glycogenosis (acid maltase deficiency). In: Hers HG, Van Hoff F, eds. Lysosomes and Storage Disorders. New York: Academic Press, 1973.
21. Engel AG, Gomez MR, Seybold ME, et al. The spectrum and diagnosis of acid maltase deficiency. Neurology 1973; 23:95-106.
22. DiMauro S, Servidei S. Disorders of carbohydrate metabolism: glycogen storage disease. In: Rosenberg RM, Prusiner SB, DiMauro S, et al., eds. The Molecular and Genetic Basis of Neurological Disease. Boston: Butterworth-Heinemann, 1993.
23. Hart ZH, Servidei S, Peterson PL, et al. Cardiomyopathy, mental retardation and autophagic vacuolar myopathy. Neurology 1987;37:1065-1068.
24. Tachi N, Tachi M, Sasaki K, et al. Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles. Pediatr Neurol 1989;5:60-63.
25. Kashio N, Usuki F, Akamine T, et al. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head. J Neurol Sci 1991;105: 1-5.
26. Servidei S, Metlay LA, Chodosh J, et al. Fatal infantile cardiomyopathy caused by phosphorylase β kinase deficiency. J Pediatr 1998;113:82-85.
27. DiMauro S, Hartwig GB, Hays AP, et al. Debrancher deficiency: neuromuscular disorders in five adults. Ann Neurol 1979;5:422-436.
28. Moses SW, Wandermann KL, Myroz A, et al. Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 1989;148:764-766.
29. Servidei S, Riepe RE, Langston C, et al. Severe cardiomyopathy in branching enzyme deficiency. J Pediatr 1987;111: 51-56.
30. Miranda AF, Nette G, Hartlage P, et al. Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. Neurology 1979;29:1538-1541.
31. Hayflick S, Rowe S, Kavanaugh-McHugh A, et al. Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis. J Pediatr 1992;120:269-272.
32. Haust MD, Gordon BA, Hong R, et al. Clinicopathologic conference: an adolescent girl with severe mental impairment and mucopolysaccharidosis. Am J Med 1985;22:1-27.
33. Herd JK, Subramanian S, Robinson H. Type III mucopolysaccharidosis: report of a case with severe mitral valve involvement. J Pediatr 1973;82:101-104.
34. Blank E, Linder D. I-cell disease (mucolipidosis II): a lysosomopathy. Pediatrics 1974;54:797-805.
35. Gilbert EF, Dawson G, ZuRhein GM, et al. I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Z Kinderheilkd 1973;114:259-292.
36. Glaser JH, McAllister WH, Sly WS. Genetic heterogeneity in multiple lysosomal hydrolase deficiency. J Pediatr 1974;85:192-198.
37. Nagashima K, Sakakibara K, Endo H, et al. I-cell disease (mucolipidosis II). Pathological and biochemical studies of an autopsy case. Acta Pathol Jpn 1977;27:251-264.
38. Patriquin HB, Kaplan P, Kind HP, Giedion A. Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases. AJR Am J Roentgenol 1977;129:37-43.
39. Roberts WC, Fredrickson DS. Gaucher's disease of the lung causing severe pulmonary hypertension with associated acute recurrent pericarditis. Circulation 1967;35:783-789.
40. Harvey PKP, Jones MC, Anderson EG. Pericardial abnormalities in Gaucher's disease. Br Heart J 1969;31:603-606.
41. Parkinson JE, Sunshine A. Angiokeratoma corporis diffusum universale (Fabry) presenting as suspected myocardial infarction and pulmonary infarcts. Am J Med 1961;31: 951-958.
42. Wise D, Wallace HJ, Jellinek EH. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 1962;31:177-206.
43. Fritz P, Schneider H, Heimburg P, Wegner G. Sekundare hypertrophe obstruktive Kardiomyopathic bei Morbus Fabry. Med Welt 1978;29:1851-1854.
44. Leder AA, Bosworth WC. Angiokeratoma corporis diffusum universale (Fabry's disease) with mitral stenosis. Am J Med 1965;38:814-819.
45. Dubach UC, Gloor F. Fabry-Krankheit (Angiokeratoma corporis diffusum universale). Phosphatidspeicherkrankheit bei zwei Familien. Dtsch Med Wochenschr 1966;91:241-245.
46. Becker AE, Schorl R, Balk AG, et al. Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol 1975;36:829-835.
47. Desnick RJ, Blieden LC, Sharp HL, et al. Cardiac valvular anomalies in Fabry disease. Clinical, morphologic and biochemical studies. Circulation 1976;54:818-825.
48. Duncan C, McLeon GM. Angiokeratoma corporis diffusum universale (Fabry's disease): a case with gross myocardial involvement. Australas Ann Med 1970;19:58-61.
49. Ferrans VJ, Hibbs RG, Burda CD. The heart in Fabry's disease. A histochemical and electron microscopic study. Am J Cardiol 1969;24:95-110.
50. Roth J, Roth H. Elektronenmikroskopische Befunde an inneren Organen bei Morbus Fabry. Virchows Arch A Pathol Pathol Anat 1978;378:75-90.
51. Gonatas NK, Gonatas J. Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis relationship to Tay-Sachs disease and gargoylism. J Neuropathol Exp Neurol 1965;24:318-340.
52. Hadley RN, Hagstrom JWC. Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis). Am J Clin Pathol 1971;55:237-240.
53. Gilbert EF, Varakis J, Opitz JM, et al. Generalized gangliosidosis type II (juvenile GM gangliosidosis). A pathological, histochemical and ultrastructural study. Z Kinderheilkd 1975;120:151-180.
54. Rodriquez-Torres R, Schneck L, Kleinberg W. Electrocardiographic and biochemical abnormalities in Tay-Sachs disease. Bull NY Acad Med 1971;47:717-730.
55. Barness LA, Henry K, Kling P, Laxova R, Kaback M, Gilbert-Barness E. Clinico-pathological report: a 7-year-old white-male boy with progressive neurological deterioration. Am J Med Genet 1991;40:271-279.
56. Blieden LC, Desnick RJ, Carter JB, et al. Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism. Am J Cardiol 1974;34:83-88.
57. Dolman CL, Chang E, Duke RJ. Pathologic findings in Sandhoff disease. Arch Pathol 1973;96:272-275.
58. 2 gangliosidosis accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease). Am J Med 1972;52:763-770.
59. Zeman W, Donahue S, Dyken P, et al. The neuronal ceroid lipofuscinosis (Batten-Vogt syndrome. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology, Vol. 10. Amsterdam: North Holland, 1970;588.
60. Miley CE III, Gilbert EF, France TD, et al. Clinical and extraneural histologic diagnosis of neuronal ceroid-lipofuscinosis. Neurology 1978;28:1008-1012.
61. Miranda AF, DiMauro S, Eastwood AB, et al. Lipid storage, ichthyosis and steatorrhea. Muscle Nerve 1979;2: 1-13.
62. Ibayashi H, Ideguchi H, Harada N, et al. Systemic triglyceride storage disease with normal carnitine: a putative defect in long-chain fatty acid metabolism. J Neurol Sci 1988;85:149-159.
63. DiDonato S, Garavaglia B, Strisciuglio P, et al. Multisystemic triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. Neurology 1988;38:1107-1110.
64. Qualman SJ, Moser HW, Valle D, et al. Farber disease: pathologic diagnosis in sibs with phenotypic variability. In: Topics in Pediatric Genetic Pathology. Enid Gilbert-Barness Festschrift. Am J Med Genet Suppl 1987;3:233-241.
65. Tripp ME, Katcher ML, Gilbert EF, et al. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. N Engl J Med 1981;305:385-389.
66. Waber LJ. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr 1982;101:700-705.
67. Bremer J. Carnitine-metabolism and functions. Physiol Rev 1983;63:1420-1480.
68. Karpati G, Carpenter S, Engel AG, et al. The syndrome of systemic carnitine deficiency: clinical, morphologic, biochemical and pathophysiologic features. Neurology 1975; 25:16-24.
69. Engel AG, Rebouche CJ. Pathogenetic mechanisms in human carnitine deficiency syndromes. In: Schotland DL, ed. Disorders of the Motor Unit. New York: John Wiley & Sons, 1982;643.
70. Gilbert EF. Carnitine deficiency. Pathology 1985;17:161-167.
71. Hug G, Bove KE, Soukup S. Lethal neonatal multiorgan deficiency of CPT-II. N Engl J Med 1991;325:1862-1864.
72. Strauss AW, Powell CK, Hale DE, et al. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc Natl Acad Sci USA 1995;92: 10496-10500.
73. Sims HF, Brackett JC, Powell CK, et al. The molecular basis of pediatric long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci USA 1995;92:841-845.
74. Wallace D. Diseases of mitochondrial DNA. Annu Rev Biochem 1992;61:1175-1212.
75. Johns DR. Mitochondrial DNA and disease. N Engl J Med 1995;333:638-644.
76. Page E, Polimeni PI, Zak R, et al. Myofibrillar mass in rat and rabbit heart muscle. Circ Res 1972;30:430-439.
77. Peters TJ, Wells G, Oakley CM, et al. Enzymic analysis of endomyocardial biopsy specimens from patients with cardiomyopathies. Br Heart J 1977;39:1333-1339.
78. Romansky SG: Neuromuscular diseases. In: Gilbert-Barness E, ed. Potter's Pathology of the Fetus and Infant. St. Louis: Mosby Publishing, 1997;1378-1422.
79. Rustin P, Lebidois J, Chretien D, et al. Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. J Pediatr 1994;124:224-228.
80. Carafoli E. Mitochondria and disease. Mol Aspects Med 1980;3:395-429.
81. Egger J, Lake BD, Wilson J. Mitochondrial cytopathy: a multisystem disorder with ragged red fibers on muscle biopsy. Arch Dis Child 1981;56:741-752.
82. Neustein HB, Lurie PR, Dahms B, et al. An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 1979;64:24-29.
83. Kelley RI, Cheatham JP, Clark BJ, et al. X-linked dilated cardiomyopathy with neutropenia and 3-methylglutoconic aciduria. J Pediatr 1991;119:738-747.
84. Ades LC, Gedeon AK, Wilson MJ, et al. Barth syndrome: clinical features and confirmation of gene localization to distal Xq28. Am J Med Genet 1993;45:327-334.
85. Egger J, Wilson J. Mitochondria inheritance in a mitochondrially mediated disease. N Engl J Med 1983;303:142-146.
86. Vogel U, Kendziorra H, Mackensen-Haen S, et al. Mitochondrial cardiomyopathy. Pediatr Pathol Lab Med Abst 1997;17:710.
87. Gilbert-Barness E. Metabolic cardiomyopathy in childhood. In: Pomerance HH, Bercu BB, eds. Topics in Pediatrics Lewis Barness Festschrift. New York: Springer-Verlag, 1990;122-153.
88. Papadimitriou A, Neustein HB, DiMauro S, et al. Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. Pediatr Res 1985;18: 1023-1028.
89. Dimauro S. Mitochondrial encephalomyopathies. In: Rosenberg RH, Prusiner SB, DiMauro S, et al., eds. The Molecular and Genetic Basis of Neurological Disease. Boston: Butterworth-Heinemann, 1993;665.
90. DiMauro S, Lombes A, Nakase H, et al. Cytochrome c oxidase deficiency. Pediatr Res 1990;28:536-541.
91. Rimoldi M, Bottacchi E, Rossi L. Cytochrome c oxidase deficiency in muscle of a floppy infant without mitochondrial myopathy. J Neurol 1982;227:201-207.
92. Zeviani M, Van Dyke DH, Servidei S, et al. Myopathy and fatal cardiomyopathy due to cytochrome c oxidase deficiency. Arch Neurol 1986;43:1198-1202.
93. Kennaway NG, Carrero-Valenzuela RD, Ewart G, et al. Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency. Pediatr Res 1990;28:529-535.
94. Schwartzkopff B, Zierz S, Frenzal H, et al. Ultrastructural abnormalities of mitochondria and deficiency of myocardial cytochrome c oxidase in a patient with ventricular tachycardia. Virchows A Pathol Anat Histopathol 1991; 419:63-68.
95. Holme E, Greter J, Jacobson CE, et al. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res 1992;32:731-735.
96. Tulnius MH, Eriksson BO, Hjelmarsson O, et al. Mitochondrial myopathy and cardiomyopathy in siblings. Pediatr Neurol 1989;5:182-188.
97. Oldorfs A, Sommerland H, Holmes E, et al. Cytochrome c oxidase deficiency in infancy. Acta Neuropathol 1989;77: 267-275.
98. Zheng X, Shoffner JM, Lott MT, et al. Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV. Neurology 1989; 39:1203-1209.
99. Korenke GC, Bentlage HACM, Ruitenbeck W, et al. Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies. Eur J Pediatr 1990;150:104-108.
100. 3 in muscle from a floppy infant with cytochrome c oxidase deficiency. Eur J Pediatr 1984;141:178-180.
101. Müller-Höcker J, Ibel H, Paetzke I, et al. Fetal infantile mitochondrial cardiomyopathy and myopathy with heterogenous tissue expression of combined respiratory chain defects. Virchows Arch A Pathol Anat Histopathol 1991; 419:355-362.
102. Servidei S, Bertini E, Manfredi G, et al. Familial infantile myopathy and cardiomyopathy with deficiency of cytochrome c oxidase (COX) and mitochondrial ATP-synthase (ATP-S) [abstract]. Ann Neurol 1993;34:463.
103. Sengers RCA, Ter Haar BGA, Trijbels JMF, et al. Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediatr 1975;86:873-880.
104. Smeitink JAM, Sengers RCA, Trijbels JMF, et al. Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy. Eur J Pediatr 1989;148:656-659.
105. Servidei S, Dionisi-Vici, Bertini E, et al. "Sengers disease" with deficiency of respiratory complexes I and IV [abstract]. Ital J Neurol Sci 1990;11:194.
106. Finch SC, Finch CA. Idiopathic hemochromatosis, an iron storage disease. Medicine 1955;34:381.
107. Buja LM, Roberts WC. Iron in the heart. Etiology and clinical significance. Am J Med 1971;52:209-221.
108. Lewis HP. Cardiac involvement in hemochromatosis. Am J Med Sci 1954;227:544.
109. Knisely AS, Grady RW, Kramer EE, et al. Cytoferrin, maternofetal iron transport, and neonatal hemochromatosis. Am J Clin Pathol 1989;92:755-759.
110. Gilbert-Barness E, Barness LA. Disorders of metal metabolism. In: Metabolic Disorders. Natick, MA: Eaton, 1999 (in press).
111. Bottiger LE, Mollerberg H. Increased copper content of hypertrophic myocardium. Acta Med Scand 1959;165: 413.
112. Azevedo EM, Scaff M, Barbosa ER, et al. Heart involvement in hepatolenticular degeneration. Acta Neurol Scand 1978;58:296-303.
113. Danks BM, Campbell PE, Stevens BJ, et al. Menkes' kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 1972;50:188-201.
114. Uno H, Arya S, Laxova R, Gilbert EF. Menkes' syndrome with vascular and adrenergic nerve abnormalities. Arch Pathol Lab Med 1983;107:286-289.
115. Martin JJ, Flament-Durand J, Farriaux JP, et al. Menkes' kinky hair disease. A report on its pathology. Acta Neuropathol 1978;42:25-32.
116. Wheeler EM, Roberts P. Menkes' steely hair syndrome. Arch Dis Child 1976;51:269.
117. Dubin IN. Chronic idiopathic jaundice. A review of fifty cases. Am J Med 1958;24:268.
118. Dubin IN, Johnson FB. Chronic idiopathic jaundice with unidentified pigment in the liver cells. A new clinicopathological entity with a report of twelve cases. Medicine 1954;33:155.
119. Sprinz H, Nelson RS. Persistent nonhemolytic hyperbilirubinemia associated with lipochrome-like pigment in liver cells: report of four cases. Ann Intern Med 1954;14: 952.
120. Wegman R, Rangier M, Eteve J, et al. Melanose hepatosplenique avec ictere chronique à bilirubine directe: maladie de Dubin-Johnson? Histochimique et spectrographique du pigment abnormal. Semin Hop Paris 1960;36:1761.
121. Butt HR, Anderson VE, Faulk WT, et al. Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. Gastroenterology 1966;51:619-630.
122. Goldstein JI, Hobbs H, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw Hill, 1995;1981-2030.
123. Buja LM, Kovanen PT, Bilheimer DW. Cellular pathology of homozygous familial hypercholesterolemia. Am J Pathol 1979;97:327-357.
124. Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995; 332:1058-1064.
125. Watkins H, Rosenzweig A, Hwang D-S, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1108-1114.
126. Schwartz K, Carrier L, Guicheney P, Komajda M. Molecular basis of familial cardiomyopathies. Circulation 1995; 91:532-540.
127. Marian AL, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 1995;92:1336-1347.
128. Leiden JM. The genetics of dilated cardiomyopathy -emerging clues to the puzzle. N Engl J Med 1997;337:1080-1083.
129. Thierfelder L, Watkins H, MacRae C, et al. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-712.
130. Watkins H, Anna R, Coviello DA, et al. A de novo mutation in α-tropomyosin that causes hypertrophic cardiomyopathy. Circulation 1995;91:2302-2305.
131. Watkins H, Connor D, Thierfelder L, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995;11:434-435.
132. Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-440.
133. Poetter K, Jiang H, Hassanzadeh S, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996;13:63-69.
134. Nimura H, Bachinski LL, Sangwatanaroj S, et al. Mutations in the gene for cardiac myosin binding protein C and late-onset familial hypertrophic cardiomyopathy. New Engl J Med 1998;338:1248-1257.
135. Sutton MSJ, Epstein JA. Hypertrophic cardiomyopathy -beyond the sacromere. New Engl J Med 1998;338:1303-1304.
136. Logan F, Kuhn H, Gietzen F, et al. Clinical course and prognosis of patients with typical and atypical hypertrophic obstructive and with hypertrophic non-obstructive cardiomyopathy. Eur Heart J 1983;4:145-153.
137. Braunwald E, Lambrew CT, Rockoff SD, et al. Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based upon an analysis of 64 patients. Circulation 1964;30:Suppl IV:3.
138. Savage DD, Seides SF, Clark CE, et al. Electrocardiographic findings in patients with obstructive and nonobstructive hypertrophic cardiomyopathy. Circulation 1978; 58:402-408.
139. Yamaguchi H, Ishimura T, Nishiyama S, et al. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol 1979;44:401-412.
140. Alfonso F, Nihoyannopoulos P, Stewart J, Dickie S, et al. Clinical significance of giant negative T waves in hypertrophic cardiomyopathy. J Am Coll Cardiol 1990;15:965-971.
141. Rasmussen H, Tenenhouse HS. Mendelian hypophosphatemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 1995;3717.
142. Abbasi AS, MacAlpin RN, Eber LM, Pearce ML. Echocardiographic diagnosis of idiopathic hypertrophic cardiomyopathy without outflow obstruction. Circulation 1972;46: 897-904.
143. Shah PM, Gramiak R, Adelman AG, Wigle ED. Role of echocardiography in diagnostic and hemodynamic assessment of hypertrophic subaortic stenosis. Circulation 1971; 44:891-898.
144. Tajik AJ, Giuliani ER. Echocardiographic observations in idiopathic hypertrophic subaortic stenosis. Mayo Clin Proc 1974;49:89-97.
145. Henry WL, Clark CE, Epstein SE. Asymmetric septal hypertrophy. Echocardiographic identification of the pathognomonic anatomic abnormality of IHSS. Circulation 1973;47:225-233.
146. 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.
147. Maron BJ, Gottdiener JS, Bonow RO, Epstein SE. Hypertrophic cardiomyopathy with unusual locations of left ventricular hypertrophy undetectable by M-mode echocardiography. Identification by wide-angle two-dimensional echocardiography. Circulation 1981;63:409-418.
148. Shapiro LM, McKenna WJ. Distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy. A two-dimensional echocardiographic study. J Am Coll Cardiol 1983;2:437-144.
149. Criley JM, Lewis KB, White RI, Ross RS. Pressure gradients without obstruction. A new concept of "hypertrophic subaortic stenosis." Circulation 1965;32:881.
150. Davies MJ, McKenna WJ. Hypertrophic cardiomyopathy -pathology and pathogenesis. Histopathology 1995;26:493-500.
151. Pomerance A, Davies MJ. Pathological features of hypertrophic obstructive cardiomyopathy (HOCM) in the elderly. Br Heart J 1975;37:305-312.
152. McKenna WJ, Kleinebenne A, Nihoyannopoulos P, Foale R. Echocardiographic measurement of right ventricular wall thickness in hypertrophic cardiomyopathy: relation to clinical and prognostic features. J Am Coll Cardiol 1988;11:351-358.
153. Davies MJ. The current status of myocardial disarray in hypertrophic cardiomyopathy. Br Heart J 1984;51:361-368.
154. Maron BJ, Anan TJ, Roberts WC. Quantitative analysis of the distribution of cardiac muscle cell disorganization in the left ventricular wall of patients with hypertrophic cardiomyopathy. Circulation 1981;63:882-894.
155. Ferrans VJ, Morrow AG, Roberts WC. Myocardial ultrastructure in idiopathic hypertrophic subaortic stenosis. A study of operatively excised left ventricular outflow tract muscle in 14 patients. Circulation 1972;45:769-792.
156. Becker AE, Caruso G. Myocardial disarray. A critical review. Br Heart J 1982;47:527-538.
157. Bulkley BH, Weisfeldt ML, Hutchins GM. Asymmetric septal hypertrophy and myocardial fiber disarray. Features of normal, developing, and malformed hearts. Circulation 1977;56:292-298.
158. Bonow RO, Rosing DR, Bacharach SL, et al. Effects of verapamil on left ventricular systolic function and diastolic filling in patients with hypertrophic cardiomyopathy. Circulation 1981;64:787-796.
159. Lorell BH. Use of calcium channel blockers in hypertrophic cardiomyopathy. Am J Med 1985;78:43-54.
160. Hanrath P, Mathey DG, Siegert R, Bleifeld W. Left ventricular relaxation and filling pattern in different forms of left ventricular hypertrophy: an echocardiographic study. Am J Cardiol 1980;45:15-23.
161. Betocchi S, Bonow RO, Bacharach SL, et al. Isovolumic relaxation period in hypertrophic cardiomyopathy: assessment by radionuclide angiography. J Am Coll Cardiol 1986;7:74-81.
162. Thompson DS, Naqvi N, Juul SM, et al. Effects of propranolol on myocardial oxygen consumption, substrate extraction, and haemodynamics in hypertrophic obstructive cardiomyopathy. Br Heart J 1980;44:488-498.
163. Harrison DC, Braunwald E, Glick G, et al. Effects of beta adrenergic blockade on the circulation, with particular reference to observations in patients with hypertrophic subaortic stenosis. Circulation 1964;29:84.
164. Cohen LS, Braunwald E. Amelioration of angina pectoris in idiopathic hypertrophic subaortic stenosis with beta-adrenergic blockade. Circulation 1967;35:847-851.
165. Zipes DP. Are implantable cardioverter-defibrillators better than conventional antiarrhythmic drugs for survivors of cardiac arrest? Circulation 1995;91:2115-2117.
166. Ceremuzynski L, Kleczar E, Krzeminska-Pakula M, et al. Effect of amiodarone on mortality after myocardial infarction: a double-blind, placebo-controlled, pilot study. J Am Coll Cardiol 1992;20:1056-1062.
167. The CASCADE Investigators. Randomized antiarrhythmic drug therapy in survivors of cardiac arrest (the CASCADE Study). Am J Cardiol 1993;72:280-287.
168. McKenna WJ, Goodwin JF. The natural history of hypertrophic cardiomyopathy. Curr Prob Cardiol 1981;6:1-26.
169. Kirklin JW, Barratt-Boyes BG. Cardiac Surgery. New York: John Wiley & Sons, 1986.
170. Seiler C, Hess OM, Schoenbeck M, et al. Long-term follow-up of medical versus surgical therapy for hypertrophic cardiomyopathy: a retrospective study. J Am Coll Cardiol 1991;17:634-642.
171. Maron BJ, Merrill WH, Freier PA, Kent KM. Long-term clinical course and symptomatic status of patients after operation for hypertrophic subaortic stenosis. Circulation 1978;57:1205-1213.
172. Cooley DA, Leachman RD, Wukasch DC. Diffuse muscular subaortic stenosis: surgical treatment. Am J Cardiol 1973;31:1-6.
173. McIntosh CL, Greenberg GJ, Maron BJ, et al. Clinical and hemodynamic results after mitral valve replacement in patients with obstructive hypertrophic cardiomyopathy. Ann Thorac Surg 1989;47:236-246.
174. ten Berg JM, Suttorp MJ, Knapen PJ, et al. Hypertrophic obstructive cardiomyopathy: initial results and long-term follow-up after Morrow septal myectomy. Circulation 1994;90:1781-1785.
175. Robbins RC, Stinson EB. Long-term results of left ventricular myotomy and myectomy for obstructive hypertrophic cardiomyopathy. J Thorac Cardiovasc Surg 1996;111: 586-594.
176. McCully RB, Nishimura RA, Tajik AJ, et al. Extent of clinical improvement after surgical treatment of hypertrophic obstructive cardiomyopathy. Circulation 1996;94: 467-476.
177. Cooper MM, McIntosh CL, Tucker E, Clark RE. Operation for hypertrophic subaortic stenosis in the aged. Ann Thorac Surg 1987;44:370-378.
178. Siegman IL, Maron BJ, Permut LC, et al. Results of operation for coexistent obstructive hypertrophic cardiomyopathy and coronary artery disease. J Am Coll Cardiol 1989;13:1527-1533.
179. Marwick TH, Stewart WJ, Lever HM, et al. Benefits of intraoperative echocardiography in the surgical management of hypertrophic cardiomyopathy. J Am Coll Cardiol 1992;20:1066-1072.
180. Grigg LE, Wigle ED, Williams WD, et al. Transesophageal Doppler echocardiography in obstructive hypertrophic cardiomyopathy: clarification of pathophysiology and importance of intraoperative decision making. J Am Coll Cardiol 1992;20:42-52.
181. Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med 1997;336:775-785.
182. Sadoul N, Prasad K, Elliott PM, et al. Prospective diagnostic assessment of blood pressure response during exercise in patients with hypertrophic cardiomyopathy. Circulation 1996;96:2987-2991.
183. Joseph S, Balcon R, McDonald L. Syncope in hypertrophic obstructive cardiomyopathy due to asystole. Br Heart J 1972;34:974-976.
184. Chmielewzki CA, Riley RS, Mahendran A, Most AS. Complete heart block as a cause of syncope in asymmetric septal hypertrophy. Am Heart J 1977;93:91-93.
185. Gilligan DM, Nihoyannopoulos P, Chan WL, Oakley CM. Investigation of a hemodynamic basis for syncope in hypertrophic cardiomyopathy: use of a head-up tilt test. Circulation 1992;85:2140-2148.
186. McKenna W, Harris L, Deanfield J. Syncope in hypertrophic cardiomyopathy. Br Heart J 1982;47:177-179.
187. Nienaber CA, Hiller S, Spielmann RP, et al. Syncope in hypertrophic cardiomyopathy: multivariate analysis of prognostic determinants. J Am Coll Cardiol 1990;15:948-955.
188. Dilsizian V, Bonow RO, Epstein SE, Fananapazir L. Myocardial ischemia detected by thallium scintigraphy is frequently related to cardiac arrest and syncope in young patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 1993;22:796-804.
189. Seggewiss H, Gleichmann U, Faber L. The management of hypertrophic cardiomyopathy. N Engl J Med 1997;337: 349-350.
190. Frankel KA, Rosser RJ. The pathology of the heart in progressive muscular dystrophy. Hum Pathol 1976;7:375-386.
191. Matsuda M, Akatsuka N, Yamaguchi T, et al. Systolic time intervals in patients with progressive muscular dystrophy of the Duchenne type. Jpn Heart J 1977;18:638-651.
192. Prior TW. Genetic analyses of the Duchenne muscular dystrophy gene. Arch Pathol Lab Med 1991;115:984-990.
193. Rubler S, Perloff JK, Roberts WC. Duchenne's muscular dystrophy. Am Heart J 1977;94:776-784.
194. Storstein O. The heart in progressive muscular dystrophy. Exp Med Surg 1964;22:13.
195. James TN. Observations on the cardiovascular involvement, including the cardiac conduction system, in progressive muscular dystrophy. Am Heart J 1962;63:48.
196. Perloff JK, Roberts WC, DeLeon AC Jr, O'Doherty D. The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. Am J Med 1967;42:179-188.
197. Sannyal 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.
198. Sanynal SK, Johnson WW, Dische MR, et al. Dystrophic degeneration of papillary muscle and ventricular myocardium. A basis for mitral valve prolapse in Duchenne's muscular dystrophy. Circulation 1980;62:430-438.
199. Biddison JH, Dembo DH, Spalt H, et al. Familial occurrence of mitral valve prolapse in X-linked muscular dystrophy. Circulation 1979;59:1299-1304.
200. Donofrio PD, Challa VR, Hackshaw BT, et al. Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy. Arch Neurol 1989;46:705-707.
201. Prystowsky EN, Pritchett ELC, Roses AD, et al. The natural history of conduction system disease in myotonic muscular dystrophy as determined by serial electrophysiologic studies. Circulation 1979;60:1360-1364.
202. Roses AD. Myotonic dystrophy. In: Rosenberg RN, Prusiner SB, DiMauro S, eds. The Molecular and Genetic Bases of Neurological Diseases. Boston: Butterworth-Heinemann, 1993.
203. Sarnat HB, O'Connor T, Byrne PA. Clinical effects of myotonic dystrophy on pregnancy and the neonate. Arch Neurol 1976;33:459-465.
204. Shelbourne P, Davies J, Buxton J, et al. Direct diagnosis of myotonic
205. Kühn E, Fiehn W, Schroder JM, et al. Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy. A kindred. Neurology 1979;29:1144-1149.
206. Meier C, Gertsch M, Zimmerman A, et al. Nemaline myopathy presenting as cardiomyopathy. N Engl J Med 1983;308:1536-1537.
207. Pearson CM. Myotubular myopathy. In: Bergsdma D, ed. Birth Defects Compendium. New York: National Foundation, 1979.
208. Perloff JK. The myocardial disease of heredofamilial neuromyopathies. In: Fowler NO, ed. Myocardial Disease. New York: Grune and Stratton, 1973;319.
209. Harding AE, Hewer RL. The heart in Friedrich's ataxia. Q J Med 1983;52:489-502.
210. Ivemark B, Thoren C. The pathology of the heart in Friedreich's ataxia. Changes in coronary arteries and myocardium. Acta Med Scand 1964;175:227.
211. Schilero AJ, Antzia E, Dunn J. Friedreich's ataxia and its cardiac manifestations. Am Heart J 1952;44:805.
212. Barrillon A, Bensaid J, Coirault R, et al. Myocardiopathie obstructive et maladie de Friedreich. Arch Mal Coeur Vaiss 1973;66:1525-1535.
213. Gach JV, Andriange M, Franck G. Hypertrophic obstructive cardiomyopathy and Friedreich's ataxia. Report of a case and review of literature. Am J Cardiol 1971;117:436.
214. Pernot C. La Myocardiopathie de la maladie de Friedreich. A propos d'une serie de 17 observations. Arch Fr Pediatr 1979;36:11-18.
215. Smith ER, Sangalang VE, Hoffernan LP, et al. Hypertrophic cardiomyopathy: the heart disease of Friedreich's ataxia. Am Heart J 1977;94:428-434.
216. Dubowitz V. Muscle disorders in childhood. Major Prob Clin Pediatr 1978;16:1-282.
217. Huckell VR, Staniloff HM, Britt BA, et al. Cardiac manifestations of malignant hyperthermia susceptibility. Circulation 1978;58:916-925.
218. Kramer LD, Cole JP, Messenger JC, Ellistad MH. Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis. Chest 1979;75:189-192.
219. Kass S, MacRae C, Graber HL, et al. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1.1q1. Nat Genet 1994;7: 546-551.
220. Olson TM, Keating MT. Mapping a cardiomyopathy locus to chromosome 3p22-p25. J Clin Invest 1996;97:528-532.
221. Krajinovic M, Pinamonti B, Sinagra G, et al. Linkage of familial dilated cardiomyopathy to chromosome 9. Am J Hum Genet 1995;57:846-852.
222. Bowles KR, Gajarski R, Porter P, et al. Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest 1996;98:1355-1360.
223. Strauss AW, Johnson MC. The genetic basis of pediatric cardiovascular disease. Semin Perinatol 1996;20:564-576.
224. Abchee A, Marian AJ. Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. J Invest Med 1997;45:191-196.
225. McAllister HA Jr. Collagen vascular diseases and the cardiovascular system. In: Silver MD, ed. Cardiovascular Pathology. New York: Churchill Livingstone, 1983.
226. Houston HE. Abdominal aortic aneurysm in Marfan's syndrome. J Ky Med Assoc 1978;76:492-493.
227. Thilenius OG, Bharati S, Arcilla RA, et al. Cardiac pathology of Marfan's syndrome: can dissection and rupture of aortic aneurysms be prevented? Cardiology 1980;65:193-204.
228. McKusick VA. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation 1955;11:321.
229. Julien J, De Boucaud D. Aneurysme dans le systeme de la veine de Galien et syndrome de Marfan. Bordeaux Med 1971;4:3245-3252.
230. Crisfield RJ. Spontaneous aneurysm of the ductus arteriosus in a patient with Marfan's syndrome. J Thorac Cardiovasc Surg 1971;62:243-247.
231. Fournier C. Les Lesions cardio-vasculaires du syndrome de Marfan. Coeur Med Intern 1977;16:331-336.
232. Eldridge R. Coarctation in the Marfan syndrome. Arch Intern Med 1964;113:342.
233. Marvel RJ, Genoves PD. Cardiovascular disease in Marfan's syndrome. Am Heart J 1951;42:814.
234. Saruk M, Eisenstein R. Aortic lesion in Marfan syndrome. The ultrastructure of cystic medial degeneration. Arch Pathol Lab Med 1977;101:74-77.
235. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-339.
236. Kainulainen K, Karttunen L, Puhakka L, et al. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet 1994;6: 64-69.
237. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBNI) in the Marfan syndrome and related disorders. Hum Mol Genet 1995;4:1799-1809.
238. Pyeritz RE, McKusick VA. The Marfan syndrome: diagnosis and management. N Engl J Med 1979;300:772-777.
239. Dietz HC. Molecular biology of Marfan's syndrome. J Vasc Surg 1992;15:927-928.
240. Lee B, Godfrey M. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991;352:330-334.
241. McKusick VA. The defect in Marfan syndrome. Nature 1991;352:279-281.
242. Ogilvie DJ, Wordsworth BP, Priestley LM. Segregation of all four major fibrillar collagen genes in the Marfan syndrome. Am J Hum Genet 1987;41:1071-1082.
243. Beighton P. Lethal complications of the Ehlers-Danlos syndrome. BMJ 1968;3:656-659.
244. Rotberg T, Sanagustin MT, Salinas L, et al. Sindrome de Ehlers-Danlos associado a communicacion interauricular, bloqueo A-V completo, aneurisma de aorta y crecimento del ventriculo izquierdo (miocardiopatia). Arch Inst Cardiol Mex 1977;47:562-571.
245. Burnett HF, Bledsoe JH, Char F, et al. Abdominal aortic aneurysmectomy in a 17-year-old patient with Ehlers-Danlos syndrome: case report and review of the literature. Surgery 1973;74:617-620.
246. Scully RE, Galdabini JJ, McNeely BU. Case records of the Massachusetts General Hospital, case 3-1979. N Engl J Med 1979;300:129-136.
247. Duplicate reference deleted in proof.
248. Barabas AP. Vascular complications in the Ehlers-Danlos syndrome. With special reference to the "arterial type" or "Sack's syndrome." J Cardiovasc Surg 1972;13:160-167.
249. Schoolman A, Kepes JJ. Bilateral spontaneous carotid cavernous fistulae in Ehlers-Danlos syndrome. Case report. J Neurosurg 1967;26:82-86.
250. Umlas J. Spontaneous rupture of the subclavian artery in the Ehlers-Danlos syndrome. Hum Pathol 1972;3:121-126.
251. Wenstrup RJ, Welling MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 1990;46:975-982.
252. Cohen IM, Vieweg WVR, Alpert JS, et al. Osteogenesis imperfecta tarda. Cardiovascular pathology. West J Med 1977;126:228-231.
253. Sallence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-116.
254. Wheeler VR, Cooley NR, Blackburn WR. Cardiovascular pathology in osteogenesis imperfecta type IIA with a review of the literature. Pediatr Pathol 1988;8:55-64.
255. Goodman RM, Smith EW, Paton D, et al. Pseudoxanthoma elasticum: a clinical and histopathological study. Medicine 1963;42:297.
256. Mendelsohn G, Bulkley BH, Hutchins GM. Cardiovascular manifestations of pseudoxanthoma elasticum. Arch Pathol Lab Med 1978;102:298-302.
257. Schachner L, Young D. Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child 1974;127:571-575.
258. Haust MD. Maternal diabetes mellitus - effects on the fetus and placenta. In: Naeye RI, Kissane JM, Kaufman N, eds. Perinatal Pathology. Baltimore: Williams and Wilkins, 1981;201-285.
259. Gutgesell HP, Mullins CE, Gillette PC, et al. Transient hypertrophic subaortic stenosis. J Pediatr 1976;89:120-125.
260. Morriss FH Jr. Infants of diabetic mothers. Fetal and neonatal pathophysiology. Perspect Pediatr Pathol 1984;8: 223-234.
261. Halliday HL. Hypertrophic cardiomyopathy in infants of poorly controlled diabetic mothers. Arch Dis Child 1981; 56:258-263.
262. Way GL, Wolfe RW. The natural history of hypertrophic cardiomyopathy in infants of diabetic mothers. J Pediatr 1979;95:1020-1025.
263. Wolfe RR, Way GL. Cardiomyopathies in infants of diabetic mothers. Johns Hopkins Med J 1977;140:177-180.
264. Gutgesell HP, Speer M, Rosenberg HS. Characterization of cardiomyopathy in infants of diabetic mothers. Circulation 1980;61:441-450.
265. Breitweser JA, Meyer RA, Sperling MA, et al. Cardiac septal hypertrophy in hyperinsulinemic infants. J Pediatr 1980;96:535-539.
266. Symons C. Thyroid heart disease. Br Heart J 1979;41:257-262.
267. Schaffer MS, Zuberbuhler P, Wilson G, et al. Catecholamine cardiomyopathy: an unusual presentation of pheochromocytoma in children. J Pediatr 1981;99:276-279.
268. Prahlow J, Teot LA. Histiocytoid cardiomyopathy: case report and literature review. J Sci 1993;38:1427-1435.
269. Witzleben CL, Pinto M. Foamy myocardial transformation in infancy: "lipid" or "histiocytoid" myocardiopathy. Arch Pathol Lab Med 1978;103:306-311.
270. Suarez V, Fuggle WJ, Cameron AH, et al. Foamy myocardial transformation of infancy: an inherited disease. J Clin Pathol 1987;40:329-334.
271. Franciosi RA, Singh A. Oncocytic cardiomyopathy syndrome. Hum Pathol 1988;19:1361-1362.
272. Shehata BM, Patterson K, Thomas JE, et al. Histiocytoid cardiomyopathy: three new cases and a review of the literature. Pediatr Dev Pathol 1998;1:56-69.
273. Bird LM, Krous HE, Elchenfield LF. 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.
274. McGregor CG, Gibson A, Caves P. Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells: successful surgical intervention and prolonged survival. Am J Cardiol 1984;53:982-983.
275. Heifetz SA, Faught PR, Bauman M. Pathological case of the month: histiocytoid (oncocytic) cardiomyopathy. Arch Pediatr Adolesc Med 1995;149:464-465.
276. Ferrans VJ, McAllister HA, Haese WH. Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells. Report of six patients. Circulation 1976;53:708-719.
277. Saffitz JE, Ferrans VJ, Rodriguez ER, et al. Histiocytoid cardiomyopathy: a cause of sudden death in apparently healthy infants. Am J Cardiol 1983;52:215-217.
278. Zimmermann A, Diem P, Cottier H. Congenital "histiocytoid" cardiomyopathy: evidence suggesting a developmental disorder of the Purkinje cell system of the heart. Virchows Arch Pathol Anat Histopathol 1982;396:187-195.
279. Ferrans VJ. Pathologic anatomy of the dilated cardiomyopathies. Am J Cardiol 1989;64:9C-11C.
280. Kaufman SL, Chandra N, Peres NS, et al. Idiopathic infantile cardiomyopathy with involvement of the conduction system. Am J Cardiol 1972;30:648-652.
281. Van Hare GF. Radiofrequency ablation of cardiac arrhythmias in pediatric patients. Adv Pediatr 1994;41:83-110.
282. Young BK, Katz M, Klein SA. Intrapartum fetal cardiac arrhythmias. Obstet Gynecol 1979;54:427-432.
283. Milo S, Ho SY, Wilkinson JL, et al. Surgical anatomy and atrioventricular conduction tissues of hearts with isolated ventricular septal defects. J Thorac Cardiovasc Surg 1980;79:244-255.
284. Michaelsson M, Engle MA. Congenital complete heart block: an international study of the natural history. Cardiovasc Clin 1974;4:85-106.
285. Guntheroth WG, Motolsky AG. Inherited disorders of cardiac rhythm and conduction. Prog Med Genet 1983;5: 581-402.
286. Abman SH, Warady BA, Lum GM, et al. Systemic hypertension in infants with bronchopulmonary dysplasia. J Pediatr 1984;104:928-931.
287. McCue CM, Mantaka ME, Tingelstad JB, et al. Congenital heart block in newborns of mothers with connective tissue disease. Circulation 1977;56:82-90.
288. Litsey SE, Noonan JA, O'Connor WN, et al. Maternal connective tissue disease and congenital heart block. Demonstration of immunoglobulin in cardiac tissue. N Engl J Med 1985;312:98-100.
289. Kullo LJ, Edwards WD, Seward JB. Right ventricular dysplasia: the Mayo Clinic experience. Mayo Clin Proc 1995;70:541-548.
290. Marcus FL, Fontaine GH, Guiraudon G, et al. Right ventricular dysplasia: a report of 24 cases. Circulation 1982;65:384-398.
291. Marcus FL, Fontaine G. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: a review. Pacing Clin Electrophysiol 1995;18:1298-1314.
292. Nava A, Thiene G, Canciani B, et al. Familial occurrence of right ventricular dysplasia: a study involving nine families. J Am Coll Cardiol 1988;12:1222-1228.
293. Dungan WT, Garson A Jr, Gillette DC. Arrhythmogenic right ventricular dysplasia: a cause of ventricular tachycardia in children with apparently normal hearts. Am Heart J 1981;102:745-750.
294. Sabel KG, Blomstrom-Lundquist C, Olsson SB. Arrhythmogenic right ventricular dysplasia in mother and sister: is it related to myocarditis? Pediatr Cardiol 1990;11:113-116.
295. Manyari DE, Klein GJ, Gulamhusein S, et al. Arrhythmogenic right ventricular dysplasia: a generalized cardiomyopathy? Circulation 1983;68:251-257.
296. Kirsch LR, Weinstock DJ, Magid MS. Treatment of presumed arrhythmogenic right ventricular dysplasia in an adolescent. Chest 1993;104:298-300.
297. Hoch DH, Rosenfield LE. Tachycardias of right ventricular origin. Cardiol Clin 1992;10:151-164.
298. Dalal P, Fujisic K, Hupart P, Schwietzer P. Arrhythmogenic right ventricular dysplasia: a review. Cardiology 1994;85:361-369.
299. Thiene G, Nava A, Corrado D, et al. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988;318:129-133.
300. Misaki T, Watanabe G, Iwa T, et al. Surgical treatment of arrhythmogenic, right ventricular dysplasia: long-term outcome. Ann Thorac Surg 1994;58:1380-1385.
301. Rampazzo A, Nava A, Danieli GA, et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994;3:959-962.
302. Duŝek J, Oŝtádal B, Duŝkova M. Postnatal persistence of spongy myocardium with embryonic blood supply. Arch Pathol 1975;99:312-317.
303. Freedom RM. Persistence of spongy myocardium - a form of congenital cardiomyopathy? In: Freedom RM, Culham JAG, Moes CAF, eds. Angiocardiography of Congenital Heart Disease. New York: MacMillan, 1984;360-362.
304. Michel RS, Carpenter MA, Lovell MA. Pathological case of the month: noncompaction of the left ventricular myocardium. Arch Pediatr Adolesc Med 1998;152:709-710.
305. Keating M, Atkinson D, Dunn C, et al. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey RAS-1 gene. Science 1991;252:704-706.
306. Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997;15:186-189.
307. Towbin JA, Li H, Taggart TR, et al. Evidence of genetic heterogeneity in Romano-Ward long QT syndrome: analysis of 23 families. Circulation 1994;90:2635-2644.
308. Moss AJ, Zareba W, Benhorin J, et al. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995;92:2929-2934.
309. Zoreba W, Moss AJ, Schwartz PJ, et al. Influence of the genotype in the clinical course of the long-QT syndrome. N Engl J Med 1998;339:960-965.
310. Russell MW. The molecular genetics of the long QT syndromes. Curr Opin Cardiol 1996;11:45-51.
311. Towbin JA, Friedman RA. Prolongation of the QT interval and the sudden infant death syndrome [editorial]. New Engl J Med 1998;338:1760-1761.
312. Schwartz PJ, Stromba-Badiale M, Segantini A, et al. Prolongation of the QT interval and the sudden infant death syndrome. New Engl J Med 1998;338:1709-1714.
313. Baim D, Rothman M, Harrison D. Improved catheter for regional sinus flow and metabolic studies. Am J Cardiol 1980;45:997-1000.
314. Baim D, Rothman M, Harrison D. Simultaneous measurement of coronary venous blood flow and oxygen saturation during transient alterations in myocardial oxygen supply and demand. Am J Cardiol 1982;49:743-752.
315. Kober G, Kunkel B, Becker HJ, et al. Technical aspects, experiences and complications of right and left ventricular endomyocardial biopsy. In: Kaltenbach M, Logan F, Olsen EGT, eds. Cardiomyopathy and Myocardial Biopsy. New York: Springer-Verlag, 1978.
316. Daly K. Significant incidence of mural thrombi in acute myocarditis - indication for early anticoagulation. J Am Coll Cardiol 1983;1:584.