| Literature DB >> 31243690 |
Nosheen Reza1, Kiran Musunuru2, Anjali Tiku Owens3.
Abstract
PURPOSE: The purpose of this review is to provide an update on the recent advances in the research and clinical care of patients with the major phenotypes of inherited cardiomyopathies-hypertrophic, dilated, and arrhythmogenic. Developments in genetics, risk stratification, therapies, and disease modeling will be discussed. RECENT: Diagnostic, prognostic, and therapeutic tools which incorporate genetic and genomic data are being steadily incorporated into the routine clinical care of patients with genetic cardiomyopathies. Human pluripotent stem cells are a breakthrough model system for the study of genetic variation associated with inherited cardiovascular disease. Next-generation sequencing technology and molecular-based diagnostics and therapeutics have emerged as valuable tools to improve the recognition and care of patients with hypertrophic, dilated, and arrhythmogenic cardiomyopathies. Improved adjudication of variant pathogenicity and management of genotype-positive/phenotype-negative individuals are imminent challenges in this realm of precision medicine.Entities:
Keywords: Arrhythmogenic right ventricular dysplasia; Dilated cardiomyopathy; Genetic testing; Genomics; Hypertrophic cardiomyopathy; Pluripotent stem cells
Year: 2019 PMID： 31243690 PMCID： PMC6823137 DOI： 10.1007/s11897-019-00435-0
Source DB: PubMed Journal: Curr Heart Fail Rep ISSN： 1546-9530