Abstract
We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalent lamin A/C mutation (R190W), suggesting a "hot spot" region at exon 3.
MeSH terms
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Cardiomyopathy, Dilated / diagnostic imaging
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Cardiomyopathy, Dilated / genetics*
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Cardiomyopathy, Dilated / physiopathology
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Death, Sudden, Cardiac
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Echocardiography
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Exons / genetics
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Family Health
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Female
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Heart Conduction System / physiopathology
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Humans
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Lamin Type A / genetics*
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Loss of Heterozygosity
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Mutation, Missense*
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Pedigree
Substances
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LMNA protein, human
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Lamin Type A