Variability in clinical presentation ranges from minimal or no symptoms to the most serious complications including heart failure and sudden cardiac death. HCM shows considerable clinical heterogeneity, both between and within families. 1, 2 The prevalence of HCM in the general population is thought to be 0.2% (or 1/500), 3 making it the commonest known cardiovascular genetic disorder. Hypertrophic cardiomyopathy (HCM) is a primary cardiac disorder characterised by myocardial hypertrophy, usually of the left ventricle, in the absence of loading conditions such as hypertension. AICD, automatic implantable cardioverter-defibrillator.This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified. There was an increase in septal wall thickness in patients with compound mutations (mean (SD): 30.7 (3.1) v 24.4 (7.4) mm p<0.05).Ĭonclusions: Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a “double dose” effect. Six of 14 affected individuals from multiple mutation families (43%) experienced a sudden cardiac death event, compared with 10 of 55 affected members (18%) from single mutation families (p = 0.05). Multiple gene mutations were identified in four probands (5%): one had a double mutation and the others had compound mutations. Nineteen probands (24%) had single mutations (11 β-MHC, 4 MyBP-C, 3 cTnI, 1 cTnT). Results: 26 mutations were identified in 23 families (29%). Clinical data were collected on all patients and on genotyped family members. Screening was by denaturing high performance liquid chromatography and direct DNA sequencing. Methods: Genetic screening of seven HCM genes (β-MHC, MyBP-C, cTnT, cTnI, ACTC, MYL2, and MY元) was undertaken in 80 unrelated probands. Objective: To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM).
0 kommentar(er)
