Key result
Familial cardiomyopathy in this three-generation family was characterized by rhythm and conduction disturbances, congestive heart failure, elevated serum enzymes, and frequent mental retardation, with a more severe course in males.
Case Report
This report describes a familial cardiomyopathy characterized by progressive rhythm and conduction disturbances, heart failure, elevated serum enzymes, and mental retardation, with a more severe course in males.
May prompt family screening and genetic counseling in similar cases; leaves open the causative variant and inheritance mechanism.
Over three generations, several members of a family suffered from cardiomyopathy exhibiting, primarily, rhythm and conduction disturbances and, eventually, congestive heart failure. Certain serum enzymes (SGOT, SGPT, LDH) were elevated. The clinical examination indicated a progressive deterioration with increasing age of the patients, a more serious course in the male members of the family, and the frequent association of mental retardation.
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dy et al. (2008) conducted a case report in Familial Cardiomyopathy. Familial inheritance was evaluated on Clinical presentation and progression of familial cardiomyopathy. Familial cardiomyopathy in this three-generation family was characterized by rhythm and conduction disturbances, congestive heart failure, elevated serum enzymes, and frequent mental retardation, with a more severe course in males.
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