Genome Sequencing in Hypertrophic Cardiomyopathy
نویسندگان
چکیده
منابع مشابه
DIFFUSE CORONARY ARTERIAL ECTASIA WITH HYPERTROPHIC CARDIOMYOPATHY
A 40 year old male, a known case of hypertrophic cardiomyopathy, was admitted for catheterization. At catheterization and angiography, septum was hypertrophied to about 5cm and diffuse coronary artery aneurysm was revealed. We found no previous report of coronary artery aneurysm in hypertrophic cardiomyopathy.
متن کاملA Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.
BACKGROUND As DNA sequencing costs decline, genetic testing options have expanded. Whole exome sequencing and whole genome sequencing (WGS) are entering clinical use, posing questions about their incremental value compared with disease-specific multigene panels that have been the cornerstone of genetic testing. METHODS AND RESULTS Forty-one patients with hypertrophic cardiomyopathy who had un...
متن کاملGenetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
BACKGROUND Clinical interpretation of the large number of rare variants identified by high throughput sequencing (HTS) technologies is challenging. The aim of this study was to explore the clinical implications of a HTS strategy for patients with hypertrophic cardiomyopathy (HCM) using a targeted HTS methodology and workflow developed for patients with a range of inherited cardiovascular diseas...
متن کاملHypertrophic Cardiomyopathy
Circulation Research is available at http://circres.ahajournals.org DOI: 10.1161/CIRCRESAHA.117.311059 Abstract: Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy in...
متن کاملHypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an incidence of about 1 in 500 individuals. It is characterized by asymmetrical hypertrophy of the left ventricle in the absence of other causes for hypertrophy. HCM can vary from essentially asymptomatic to highly malignant up to end-stage heart failure or cause life-threatening arrhythmias with sudden cardiac death particu...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2018
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2018.05.029