Abstract
The role of familial disease in childhood dilated cardiomyopathy is unknown. A novel mutation in the cardiac Troponin C gene has been identified recently in a family with dilated cardiomyopathy. Here we present a subsequent case of dilated cardiomyopathy occurring in a child from the same family, and emphasise the implications for future screening and counselling.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Biopsy
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Cardiomyopathy, Dilated / diagnosis
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Cardiomyopathy, Dilated / genetics*
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Cardiomyopathy, Dilated / surgery
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Child, Preschool
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DNA / genetics*
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DNA Mutational Analysis
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Echocardiography, Doppler, Color
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Electrocardiography
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Follow-Up Studies
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Genetic Predisposition to Disease
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Heart Transplantation
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Humans
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Male
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Mutation*
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Myocardial Contraction
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Myocardium / metabolism*
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Myocardium / pathology
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Pedigree
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Severity of Illness Index
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Troponin C / genetics*
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Troponin C / metabolism