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Genetics of Hypertrophic Cardiomyopathy After 20 Years: Clinical Perspectives

Journal of the American College of Cardiology, 2012-08, Vol.60 (8), p.705-715 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2012.02.068 ;PMID: 22796258 ;CODEN: JACCDI

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Title:
Genetics of Hypertrophic Cardiomyopathy After 20 Years: Clinical Perspectives
Author: MARON, Barry J ; MARON, Martin S ; SEMSARIAN, Christopher
Subjects: Age Factors ; Biological and medical sciences ; Cardiac Myosins - genetics ; Cardiology. Vascular system ; Cardiomyopathy, Hypertrophic - diagnosis ; Cardiomyopathy, Hypertrophic - genetics ; Cardiomyopathy, Hypertrophic - history ; Cardiomyopathy, Hypertrophic, Familial - diagnosis ; Cardiomyopathy, Hypertrophic, Familial - genetics ; Carrier Proteins - genetics ; Diagnosis, Differential ; DNA Mutational Analysis ; Echocardiography ; Frameshift Mutation ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Privacy - legislation & jurisprudence ; Genetic Testing - standards ; Genotype ; Heart ; History, 20th Century ; History, 21st Century ; Humans ; Medical sciences ; Mutation ; Mutation, Missense ; Myocarditis. Cardiomyopathies ; Myosin Heavy Chains - genetics ; Pedigree ; Phenotype ; Sarcomeres - genetics ; United States
Is Part Of: Journal of the American College of Cardiology, 2012-08, Vol.60 (8), p.705-715
Description: Hypertrophic cardiomyopathy (HCM) is the most common familial heart disease with vast genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the cardiac sarcomere (>1,400 variants) are responsible for (or associated with) HCM. Explosive progress achieved in understanding the rapidly evolving science underlying HCM genomics has resulted in fee-for-service testing, making genetic information widely available. The power of HCM mutational analysis, albeit a more limited role than initially envisioned, lies most prominently in screening family members at risk for developing disease and excluding unaffected relatives, which is information not achievable otherwise. Genetic testing also allows expansion of the broad HCM disease spectrum and diagnosis of HCM phenocopies with different natural history and treatment options, but is not a reliable strategy for predicting prognosis. Interfacing a heterogeneous disease such as HCM with the vast genetic variability of the human genome, and high frequency of novel mutations, has created unforeseen difficulties in translating complex science (and language) into the clinical arena. Indeed, proband diagnostic testing is often expressed on a probabilistic scale, which is frequently incompatible with clinical decision making. Major challenges rest with making reliable distinctions between pathogenic mutations and benign variants, and those judged to be of uncertain significance. Genotyping in HCM can be a powerful tool for family screening and diagnosis. However, wider adoption and future success of genetic testing in the practicing cardiovascular community depends on a standardized approach to mutation interpretation, and bridging the communication gap between basic scientists and clinicians.
Publisher: New York, NY: Elsevier
Language: English
Identifier: ISSN: 0735-1097
EISSN: 1558-3597
DOI: 10.1016/j.jacc.2012.02.068
PMID: 22796258
CODEN: JACCDI
Source: GFMER Free Medical Journals
MEDLINE
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Genetics of Hypertrophic Cardiomyopathy After 20 Years: Clinical Perspectives

2015 INIST-CNRS ;Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2012.02.068 ;PMID: 22796258 ;CODEN: JACCDI

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