The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophy
نویسندگان
چکیده
INTRODUCTION Severe right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH. METHODS HCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH. Patients with apical hypertrophic cardiomyopathy (ApHCM) were selected as a comparison group. The clinical features and outcomes of 34 HCM patients with SRVH and 273 ApHCM patients were compared. RESULTS Compared with the ApHCM group, the HCM with SRVH group included younger patients and a higher proportion of female patients and also displayed higher cardiovascular morbidity and mortality. The multivariate Cox proportional hazards regression models identified 2 independent predictors of cardiovascular death in HCM patients with SRVH, a New York Heart Association class ≥III (hazard ratio [HR] = 8.7, 95% confidence interval (CI): 1.43-52.87, p = 0.019) and an age at the time of HCM diagnosis ≤18 (HR = 5.5, 95% CI: 1.24-28.36, p = 0.026). Among the 11 HCM patients with SRVH who underwent WGS, 10 (90.9%) were identified as carriers of at least one specific sarcomere gene mutation. MYH7 and TTN mutations were the most common sarcomere mutations noted in this study. Two or more HCM-related gene mutations were observed in 9 (82%) patients, and mutations in either other cardiomyopathy-related genes or ion-channel disease-related genes were found in 8 (73%) patients. CONCLUSIONS HCM patients with SRVH were characterized by poor clinical outcomes and the presentation of multiple gene mutations.
منابع مشابه
Different aspects of transient ischemic dilation
Transient ischemic left ventricular dilation (TID) is a marker of severe and extensive coronary artery disease as well as an increased risk of adverse outcomes. The patients with more severe and extensive ischemia, multivessel-type of perfusion abnormality as well as patients with left anterior descending artery (LAD) territory perfusion abnormality have more probab...
متن کاملHypertrophic cardiomyopathy: an important cause of sudden death.
Retrospective analysis was performed to assess the natural history in relation to clinical and haemodynamic features in 37 patients in whom hypertrophic cardiomyopathy had been diagnosed in childhood. At diagnosis they were aged 1 to 14 years (mean 9 years). Eighteen presented with chest pain and either dyspnoea or symptoms of impaired consciousness or both; 19 were asymptomatic and were referr...
متن کاملHypertrophic cardiomyopathy in infants: clinical features and natural history.
The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure ...
متن کاملClinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study.
BACKGROUND Population-based studies have provided insight into the natural history of adult hypertrophic cardiomyopathy, but comparable information for affected children is lacking. METHODS AND RESULTS All Australian children who presented with primary cardiomyopathy at 0 to 10 years of age between January 1, 1987, and December 31, 1996, were enrolled in a longitudinal cohort study. A single ...
متن کاملGlycogen storage diseases presenting as hypertrophic cardiomyopathy.
BACKGROUND Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might ...
متن کامل