Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies
نویسندگان
چکیده
Citation Fish, Maryam, Gasnat Shaboodien, Sarah Kraus, Karen Sliwa, Christine E. Seidman, Michael A. Burke, Lia Crotti, Peter J. Schwartz, and Bongani M. Mayosi. 2016. “Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.” Scientific Reports 6 (1): 22235. doi:10.1038/srep22235. http://dx.doi.org/10.1038/srep22235.
منابع مشابه
Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies
Cardiomyopathy is an important cause of heart failure in Sub-Saharan Africa, accounting for up to 30% of adult heart failure hospitalisations. This high prevalence poses a challenge in societies without access to resources and interventions essential for disease management. Over 80 genes have been implicated as a cause of cardiomyopathy. Mutations in the phospholamban (PLN) gene are associated ...
متن کاملAdvances in Heart Failure Progress With Genetic Cardiomyopathies Screening, Counseling, and Testing in Dilated, Hypertrophic, and Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy, with salient features of hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy, regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genot...
متن کاملDilated Cardiomyopathy Hypertrophic Cardiomyopathy Arrhythmogenic right ventricular dysplasia Restrictive Cardiomyopathy Idiopathic Secondary Amyloidosis2 Loeffler's eosinophilic endocardial fibrosis2 Tropical endocardial fibrosis (Davies disease) Unclassified cardiomyopathies Mitochondrial cardiomyopathy Fibroelastosis Noncompacted myocardium Systolic dysfunction with minimal dilatation3
Definition and Classification The cardiomyopathies are a diverse group of myocardial diseases that are characterized by chronic ventricular dysfunction. The clinical classification of cardiomyopathy is based on hemodynamic and echocardiographic abnormalities, and consists of dilated cardiomyopathy, hypertrophic cardiomyopathy, and restrictive cardiomyopathy. Recently, arrhythmogenic right ventr...
متن کاملProgress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.
This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy, with salient features of hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia/cardiomyopathy, regarding genetic etiology, genetic testing, and genetic counseling. Enormous progress has recently been made in identifying genetic causes for each cardiomyopathy, and key phenotype and genot...
متن کاملEpidemiology and etiology of cardiomyopathy in Africa.
BACKGROUND Cardiomyopathy, an often irreversible form of heart muscle disease that is associated with a dismal outcome, is endemic in Africa. The primary objective of this review was to summarize the current state of knowledge on the epidemiology and etiology of cardiomyopathy in people living in Africa and to identify new avenues for research. METHODS AND RESULTS We searched MEDLINE (January...
متن کامل