Abstract
Diseases related to lamin A/C mutations (laminopathies) are extremely heterogeneous. The common cardiac phenotype is idiopathic dilated cardiomyopathy with atrioventricular block and/or arrhythmias. Moreover, patients with lamin A/C gene mutations are at increased risk for sudden cardiac death. Here we present a family with a strong positive history of sudden cardiac death in presence of idiopathic dilated cardiomyopathy and cardiac conduction abnormalities, related to a novel lamin A/C mutation in exon 3.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Aged
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Angiotensin-Converting Enzyme Inhibitors / therapeutic use
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Cardiomyopathy, Dilated / diagnosis
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Cardiomyopathy, Dilated / diagnostic imaging
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Cardiomyopathy, Dilated / drug therapy
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Cardiomyopathy, Dilated / genetics*
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Death, Sudden, Cardiac* / etiology
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Echocardiography
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Electrocardiography, Ambulatory
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Female
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Genetic Testing
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Humans
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Lamin Type A / genetics*
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Magnetic Resonance Imaging
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Middle Aged
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Mutation*
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Pedigree
Substances
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Angiotensin-Converting Enzyme Inhibitors
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LMNA protein, human
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Lamin Type A