Clinical and Genetic Aspects of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most common inherited myocardial disease and characterized by extreme clinical and genetic heterogeneity. Information on the prognostic value of genotype is currently limited. In this thesis, we compared the clinical phenotype and outcome of genotype-positive and genotype-negative patients with HCM during long-term follow-up; genotype-positive status was an independent risk factor of mortality. In addition, we analyzed the clinical findings and outcome in patients with Dutch Myosin-Binding Protein C founder mutations and found no difference in compariso

Prognostic significance of anterior mitral valve leaflet length in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes

Purpose: Previous studies suggest that anterior mitral valve leaflet (AMVL) elongation is a primary phenotypic feature in hypertrophic cardiomyopathy (HCM). Our aim was to assess AMVL length in individuals with HCM gene mutations and in healthy controls and to identify predictors of the development of HCM during follow-up. Methods:

Effect of Gender and Genetic Mutations on Outcomes in Patients With Hypertrophic Cardiomyopathy

Gender has been proposed to impact the phenotype and prognosis of hypertrophic cardiomyopathy (HC). Our aims were to study gender differences in the clinical presentation, phenotype, genotype, and outcome of HC. This retrospective single-center cohort study included 1,007 patients with HC (62% male, 80% genotyped) evaluated between 1977 and 2017. Hazard ratios (HR) were calculated using multivariable Cox proportional hazard regression models. At first evaluation, female patients presented more often with symptoms (43% vs 35%, p = 0.01), were older than male patients (56 ± 16 vs 49 ± 15 years, p <0.001), and more frequently had hypertension (38% vs 27%, p <0.001), left ventricular outflow tract obstruction (37% vs 27%, p <0.001), and impaired left ventricular systolic (17% vs 11%, p = 0.01) and diastolic (77% vs 62%, p <0.001) function. Overall, the genetic yield was similar between genders (54% vs 51%, p = 0.4); however, in patients ≥70 years, the genetic yield was less in women (15% vs 36%, p = 0.03). During 6.8-year follow-up (interquartile range 3.2 to 10.9), female gender was not independently associated with all-cause mortality (HR 1.25 [0.91 to 1.73]), cardiovascular mortality (HR 1.22 [0.83 to 1.79]), heart failure-related mortality (HR 1.77 [0.95 to 3.27]), or sudden cardiac death (SCD) and/or aborted SCD (HR 0.75 [0.44 to 1.30]). Interventions and nonfatal clinical events did not differ between the genders. In conclusion, female patients with HC present at a more advanced age with a different clinical, phenotypic, and genetic status. There is no independent association between female gender and all-cause mortality, cardiovascular mortality, heart failure-related mortality, or SCD