Cardiac involvement in Fukuyama-type congenital muscular dystrophy

Pediatrics

Volumn 117, Issue 6, 2006, Pages

  Nakanishi, Toshio ^a,b   Sakauchi, Masako ^b   Kaneda, Yoshio ^b   Tomimatsu, Hirofumi ^a   Saito, Kayoko ^b   Nakazawa, Makoto ^a   Osawa, Makiko ^b  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Cardiomyopathy; Echocardiography; Heart failure; Muscles

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARVEDILOL; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMBINATION CHEMOTHERAPY; CONTROLLED STUDY; CORRELATION ANALYSIS; DOPPLER ECHOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; HEART FAILURE; HEART LEFT VENTRICLE CONTRACTION; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART LEFT VENTRICLE FUNCTION; HEART LEFT VENTRICLE WALL; HEART MUSCLE; HEART MUSCLE FIBROSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; M MODE ECHOCARDIOGRAPHY; MALE; MONOTHERAPY; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SKELETAL MUSCLE; VELOCITY; CARDIOMYOPATHY; MUSCULAR DYSTROPHY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MUSCULAR DYSTROPHIES;

EID: 33745310936     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2005-2469     Document Type: Article

References (25)

1. Fukuyama Y, Kawazura M, Haruna H. A peculiar form of congenital muscular dystrophy. Report of fifteen cases. Pediatr Univ Tokyo. 1960;4:5-8
2. Toda T, Kobayashi K. Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. J Mol Med. 1999;77:816-823
3. Fukuyama Y, Osawa M, Suzuki H. Congenital muscular dystrophy of the Fukuyama-type. Clinical, genetic and pathological considerations. Brain Dev. 1981;3:1-29
4. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;23:388-392
5. Kobayashi K, Sasaki J, Kondo-Iida E, et al. Structural organization, complete genomic sequences and mutational analysis of the Fukuyama-type congenital muscular dystrophy gene, fukutin. FEBS Lett. 2001;489:192-196
6. Kondo-Ikeda E, Kobayashi K, Watanabe M, et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Human Mol Genet. 1999;8:2303-2309
7. Saito K, Osawa M, Wang Z, Ikeya K, et al. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am J Med Genet. 2000;92:184-190
8. Endo T, Toda T. Glycosylation in congenital muscular dystrophies. Biol Pharm Bull. 2003;26:1641-1647
9. Matsumoto H, Hayashi YK, Kim D, et al. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. Neuromus Dis. 2005;15:342-348
10. Kurahashi H, Taniguchi M, Meno C, et al. Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neulobiol Dis. 2005;19:208-217
11. Hayashi YK, Ogawa M, Tagawa K, et al. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 2001;57:115-121
12. Schiller NB, Shah PM, Crawford M, et al. Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. J Am Soc Echocardiogr. 1989;2:358-367
13. Colan SD, Borrow KM, Newmann A. Left ventricular endsystolic wall stress-velocity of fiber shortening relation: A load independent index of myocardial contractility. J Am Coll Cardiol. 1984;4:715-724
14. Inai K, Nakanishi T, Mori Y, Tomimatsu H, Nakazawa M. Left ventricular diastolic dysfunction in Ebstein's anomaly. Am J Cardiol. 2004;93:255-258
15. Perloff JK, Henze E, Schelbert HR. Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied by radionuclide imaging. Circulation. 1984;69:33-42
16. Sanyal S, Johnson WW, Thapar MK, Pitner SE. An ultrastructural basis for electrocardiographic alterations associated with Duchenne's progressive muscular dystrophy. Circulation. 1978;57:1122-1129
17. Goldberg SJ, Feldman L, Reinecke C, Stern LZ, Sahn DJ, Allen HD. Echocardiographic determination of contraction and relaxation measurements of the left ventricular wall in normal subjects and patients with muscular dystrophy. Circulation. 1980;62:1061-1069
18. Melacini F, Fanin M, Danieli GA, et al. Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol. 1993;22:1927-1934
19. Gilhuis HJ, ten Donkelaar HJ, Tanke RB, et al. Nonmuscular involvement in merosin-negative congenital muscular dystrophy. Ped Neurol. 2002;26:30-36
20. Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscular Disorders. 2004;14:635-649
21. Spyrou N, Philpot J, Foale R, Camici PG, Muntoni F. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J. 1998;136:474-476
22. Ceviz N, Alehan F, Alehan D, et al. Assessment of left ventricular systolic and diastolic function in children with merosin-positive congenital muscular dystrophy. Int J Cardiol. 2003;87:129-133
23. Nagamachi S, Inoue K, Jinnouchi S, et al. Cardiac involvement of progressive muscular dystrophy (Becker type, Limb-girdle type, and Fukuyama type) evaluated by radionuclide method. Ann Nuc Med. 1994;8:71-74
24. Sarnat HB. Neuromuscular disorders. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. Philadelphia, PA: WB Saunders; 2000:1881-1882
25. Jefferies JL, Eidem BW, Belmont JW, et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005;112:2799-2804