Summary
A young woman with humeroperoneal muscular dystrophy and contractures received a heart transplant for a severe dilated cardiomyopathy. Cardiac histopathology consisted of myocyte hypertrophy, interstitial fibrosis, and nuclear hyperchromaticity without mitochondrial abnormalities. Myopathy and heart disease were not clinically evident in her family, although three relatives had unexplained shortened Achilles tendons without weakness. Tendon contractures may be a partial expression of this myopathic disorder, suggesting an autosomal dominant inheritance with variable penetrance. A muscular dystrophy clinically similar to that of the Emery-Dreifuss (EDMD) type can thus occur in women. Rather than the cardiac arrhythmias typical of EDMD, a dilated cardiomyopathy may occur and present with severe congestive heart failure. This is the first report of cardiac transplantation in such a case.
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References
Chakrabarti A, Pearce JMS (1981) Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal-dominant inheritance and unusual features. J Neurol Neurosurg Psychiatry 44:1146–1152
Dickey RP, Ziter FA, Smith RA (1984) Emery-Dreifuss muscular dystrophy. J Pediatr 104:555–559
Emery AEH (1987) X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). Clin Genet 32:360–367
Emery AEH, Dreifuss FE (1966) Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 29:338–342
Fenichel GM, Sul YC, Kilroy AW, Blonin R (1982) An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy. Neurology 32:1399–1401
Furrer F, Deonna T (1982) Persistent toe walking in children. A comprehensive clinical study of 28 cases. Helv Paediat Acta 37:301–316
Hopkins LC, Jackson JA, Elsas LJ (1981) Emery-Dreifuss humeroperoneal muscular dystrophy: an X-linked myopathy with unusual contractures and bradycardia. Ann Neurol 10:230–237
Illingworth RS (1988) Common symptoms of disease in children. Blackwell Scientific, Boston, pp 270–271
Mawatari S, Katayama K (1973) Scapuloperoneal muscular atrophy with cardiopathy. Arch Neurol 28:55–59
Merlini L, Granata C, Dominici P, Bonfiglioli S (1986) Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. Muscle Nerve 9:481–485
Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC (1985) Emery-Dreifuss muscular dystrophy with autosomal-dominant transmission. Neurology 35:1230–1233
O'Connell JB, Costanzo-Nordin MR, Subramanian R, Robinson JA, Wallis DE, Scanlon PJ, Gunnar RM (1986) Peripartum cardiomyopathy: clinical, hemodynamic, histologic and prognostic characteristics. J Am Coll Cardiol 8:52–56
Riggs JE, Romano JT, Schochet SS Jr, Gutmann L (1988) Humeropelviperoneal muscular dystrophy with contractures: a genetically heterogeneous phenotype. Arch Neurol 45:374–375
Rowland LP, Fetell M, Olarte M, Hays A, Singh N, Wanat FE (1979) Emery-Dreifuss muscular dystrophy. Ann Neurol 5:111–117
Takamoto K, Hirose K, Uono M, Nonaka I (1984) A genetic variant of Emery-Dreifuss disease. Arch Neurol 41:1292–1293
Thomas PK, Calne DB, Elliott CF (1972) X-linked scapuloperoneal syndrome. J Neurol Neurosurg Psychiatry 35:208–215
Yoshioka M, Saida K, Itagaki Y, Kamiya T (1989) Follow-up study of cardiac involvement in Emery-Dreifuss muscular dystrophy. Arch Dis Child 64:713–715
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Merchut, M.P., Zdonczyk, D. & Gujrati, M. Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. J Neurol 237, 316–319 (1990). https://doi.org/10.1007/BF00314751
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DOI: https://doi.org/10.1007/BF00314751