Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament-associated disease is unresolved.This study aimed to assess clinical features and outcomes in a large cohort of patients with HCM associated with thin-filament mutations compared with thick-filament HCM.Adult HCM patients (age >18 years), 80 with thin-filament and 150 with thick-filament mutations, were followed for an average of 4.5 years.Compared with thick-filament HCM, patients with thin-filament mutations showed: 1) milder and atypically distributed left ventricular (LV) hypertrophy (maximal wall thickness 18 ± 5 mm vs. 24 ± 6 mm; p < 0.001) and less prevalent outflow tract obstruction (19\% vs. 34\%; p = 0.015); 2) higher rate of progression to New York Heart Association functional class III or IV (15\% vs. 5\%; p = 0.013); 3) higher prevalence of systolic dysfunction or restrictive LV filling at last evaluation (20\% vs. 9\%; p = 0.038); 4) 2.4-fold increase in prevalence of triphasic LV filling pattern (26\% vs. 11\%; p = 0.002); and 5) similar rates of malignant ventricular arrhythmias and sudden cardiac death (p = 0.593).In adult HCM patients, thin-filament mutations are associated with increased likelihood of advanced LV dysfunction and heart failure compared with thick-filament disease, whereas arrhythmic risk in both subsets is comparable. Triphasic LV filling is particularly common in thin-filament HCM, reflecting profound diastolic dysfunction.

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations / R. Coppini;C. Y. Ho;E. Ashley;S. Day;C. Ferrantini;F. Girolami;B. Tomberli;S. Bardi;F. Torricelli;F. Cecchi;A. Mugelli;C. Poggesi;J. Tardiff;I. Olivotto. - In: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. - ISSN 0735-1097. - STAMPA. - 64:(2014), pp. 2589-2600. [10.1016/j.jacc.2014.09.059]

Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

COPPINI, RAFFAELE;FERRANTINI, CECILIA;GIROLAMI, FRANCESCA;TOMBERLI, BENEDETTA;BARDI, SARA;TORRICELLI, FRANCESCA;MUGELLI, ALESSANDRO;POGGESI, CORRADO;OLIVOTTO, IACOPO
2014

Abstract

Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament-associated disease is unresolved.This study aimed to assess clinical features and outcomes in a large cohort of patients with HCM associated with thin-filament mutations compared with thick-filament HCM.Adult HCM patients (age >18 years), 80 with thin-filament and 150 with thick-filament mutations, were followed for an average of 4.5 years.Compared with thick-filament HCM, patients with thin-filament mutations showed: 1) milder and atypically distributed left ventricular (LV) hypertrophy (maximal wall thickness 18 ± 5 mm vs. 24 ± 6 mm; p < 0.001) and less prevalent outflow tract obstruction (19\% vs. 34\%; p = 0.015); 2) higher rate of progression to New York Heart Association functional class III or IV (15\% vs. 5\%; p = 0.013); 3) higher prevalence of systolic dysfunction or restrictive LV filling at last evaluation (20\% vs. 9\%; p = 0.038); 4) 2.4-fold increase in prevalence of triphasic LV filling pattern (26\% vs. 11\%; p = 0.002); and 5) similar rates of malignant ventricular arrhythmias and sudden cardiac death (p = 0.593).In adult HCM patients, thin-filament mutations are associated with increased likelihood of advanced LV dysfunction and heart failure compared with thick-filament disease, whereas arrhythmic risk in both subsets is comparable. Triphasic LV filling is particularly common in thin-filament HCM, reflecting profound diastolic dysfunction.
2014
64
2589
2600
R. Coppini;C. Y. Ho;E. Ashley;S. Day;C. Ferrantini;F. Girolami;B. Tomberli;S. Bardi;F. Torricelli;F. Cecchi;A. Mugelli;C. Poggesi;J. Tard...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/966399
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