Long-Term Outcomes in Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Troponin T Gene

BACKGROUND—Hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene (TNNT2) has been associated with a high risk of sudden cardiac death (SCD) and mild left ventricular hypertrophy. However, previous studies are limited by sample size, cross-sectional design, and few data in re...

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Veröffentlicht in:	Circulation. Cardiovascular genetics 2012-02, Vol.5 (1), p.10-17
Hauptverfasser:	Pasquale, Ferdinando, Syrris, Petros, Kaski, Juan Pablo, Mogensen, Jens, McKenna, William J, Elliott, Perry
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biological and medical sciences Cardiac dysrhythmias Cardiology. Vascular system Cardiomyopathy, Hypertrophic - complications Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - mortality Child Child, Preschool Chromosome aberrations Cohort Studies Death, Sudden, Cardiac - etiology Electrocardiography Emergency and intensive care: neonates and children. Prematurity. Sudden death Female Follow-Up Studies Heart Humans Intensive care medicine Kaplan-Meier Estimate Male Medical genetics Medical sciences Middle Aged Mutation Myocarditis. Cardiomyopathies Pedigree Risk Factors Troponin T - genetics Troponin T - metabolism Young Adult
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Zusammenfassung:	BACKGROUND—Hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene (TNNT2) has been associated with a high risk of sudden cardiac death (SCD) and mild left ventricular hypertrophy. However, previous studies are limited by sample size, cross-sectional design, and few data in relatives. METHODS AND RESULTS—Five hundred fifty-two unrelated hypertrophic cardiomyopathy probands were screened for TNNT2 mutations. First-degree relatives were invited for clinical and genetic evaluation. Ninety-two individuals (20 probands and 72 relatives) carried TNNT2 mutations (51 [55%] male; 30±17 years). ECGs and echo were available in 87 (95%) and 88 (96%) individuals, respectively. ECG was normal in 13 (68%) children (
ISSN:	1942-325X 1942-3268
DOI:	10.1161/CIRCGENETICS.111.959973