الفهرس 
Hypertrophic CardiomyopathyOnly 14 pages are availabe for public view
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Abstract
Background: Hypertrophic cardiomyopathy (HCM) is the most common familial heart disease with vast genetic and phenotypic heterogeneity. We hypothesized that a positive family history in first degree relatives of HCM proband designate familial HCM and might have different clinical presentation, mechanical characteristics and patient’s outcome.
Methods: Four hundred and nine HCM probands were investigated in a dedicated HCM center between 2012 and 2020 and followed up in prospective cohort study. Clinical, conventional echocardiographic and left ventricular 2D strain analysis were performed at the study entry.
Results: There were 230 (56%) probands (derived from 72 families) with confirmed positive HCM phenotype in first degree relatives representing familial HCM they were compared to 179 patients with non-familial HCM. Adjusted predictors of familial status were younger age (odds ratio, 0.965; 95% CI, 0.951-0.979; P<0.001), and less severe mitral regurgitation (odds ratio, 0.632; 95% CI, 0.457–0.873; P<0.005). The familial HCM patients were prominently younger in age (P<0.001), less symptomatic (P<0.01), had lower SBP (P<0.001) and DBP (P<0.02), less severe phenotype e.g. less mitral regurgitation (P<0.001), lower LVPW thickness (P<0.04), LVMI (P<0.02), LVOT pressure gradient (P<0.007), lower PAP (P<0.005), lower E/e’ (P<0.001) and significantly higher early diastolic annular velocity (e’) (P<0.001) and LV global longitudinal strain (GLS) (-12.17 ± 5.19 vs -10.76 ± 4.89, P<0.006) compared to non- familial patients, respectively.
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Summary
Although all-cause mortality and hospitalization composite end points occurred at samefrequency in HCM subtypes, reflecting similar disease burden (31.7% versus 33.5%]; P < .7321, in familial HCM, the number of hospitalization (HR: 5.676; 95% of CI: 2.180-14.776), P<0.001), peak systolic myocardial velocity (HR: 0.765, 95%CI: 0.634- 0.924, P<0.005) and NYHA functional class (HR: 0.198, 95% CI: 0.063- 0.621, P<0.006) were independent predictor of mortality in familial HCM subtype.
Approximately 65% of HCM probands have a familial subtype, with earlier onset, less severe phenotype and better LV mechanical properties. Despite similar all-cause mortality with non-familiar subtype, reflecting similar disease burden, a worse functional class, lower systolic function and hospitalization are independent predictors of poor outcome in familial HCM. These findings further emphasize the value of a family screening and clinical surveillance and validate the need to revisit current diagnostic guidelines.