Journal
JOURNAL OF CARDIAC FAILURE
Volume 8, Issue 1, Pages 28-32Publisher
CHURCHILL LIVINGSTONE INC MEDICAL PUBLISHERS
DOI: 10.1054/jcaf.2002.31157
Keywords
familial dilated cardiomyopathy; genetics; heart failure; sudden cardiac death
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Funding
- NHLBI NIH HHS [1R01HL58626-01] Funding Source: Medline
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Background: The gene for cardiac troponin T (TNNT2) is 1 of 7 autosomal disease genes implicated in familial dilated cardiomyopathy (FDC). Identical deletions in exon 13 of TNNT2 have been reported in 2 families with FDC, but little is known about the frequency of this deletion among patients with FDC and idiopathic dilated cardiomyopathy (IDC) and the associated phenotype. Methods and Results: Exon 13 of the cardiac troponin T gene was sequenced in 61 subjects with FDC and 53 subjects with IDC. A 3-base pair deletion (DeltaLys210), identified in 1 family with at least 7 clinically affected fan-Lily members, is reported. Age of disease onset and disease severity varied widely among affected individuals: phenotypic findings included dilated cardiomyopathy, sudden cardiac death, conduction system disease including atrial fibrillation and atrioventricular block, and heart failure. Sudden-onset, rapidly progressive disease was observed in younger individuals. Conclusions: Cardiac troponin T exon 13 lysine deletions can cause FDC of varying severity and are an important but uncommon cause of FDC.
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