Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
J Am Coll Cardiol
; 64(24): 2589-2600, 2014 Dec 23.
Article
in En
| MEDLINE
| ID: mdl-25524337
ABSTRACT
BACKGROUND:
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.OBJECTIVES:
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.METHODS:
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.RESULTS:
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).CONCLUSIONS:
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cardiomyopathy, Hypertrophic
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Actins
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Troponin T
/
MAP Kinase Kinase Kinases
Type of study:
Diagnostic_studies
/
Etiology_studies
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Observational_studies
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Prognostic_studies
Limits:
Adult
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Female
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Humans
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Male
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Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
J Am Coll Cardiol
Year:
2014
Document type:
Article