Genetics of hypertrophic cardiomyopathy: A review of current state
M Sabater‐Molina, I Pérez‐Sánchez… - Clinical …, 2018 - Wiley Online Library
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease.
HCM is a highly complex and heterogeneous disease regarding not only the number of …
HCM is a highly complex and heterogeneous disease regarding not only the number of …
[HTML][HTML] Cardiovascular disease
EG Nabel - New England Journal of Medicine, 2003 - Mass Medical Soc
It is well known that cardiovascular diseases have a substantial heritable component, but the
precise genetic variants responsible for this familial tendency have been hard to uncover. In …
precise genetic variants responsible for this familial tendency have been hard to uncover. In …
Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy
JM Bos, JA Towbin, MJ Ackerman - Journal of the American College of …, 2009 - jacc.org
Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular
disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting …
disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting …
Update on hypertrophic cardiomyopathy and a guide to the guidelines
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder,
affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have …
affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have …
The genetic basis for cardiac remodeling
F Ahmad, JG Seidman… - Annu. Rev. Genomics Hum …, 2005 - annualreviews.org
▪ Abstract Cardiomyopathies are primary disorders of cardiac muscle associated with
abnormalities of cardiac wall thickness, chamber size, contraction, relaxation, conduction …
abnormalities of cardiac wall thickness, chamber size, contraction, relaxation, conduction …
Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression
A Keren, P Syrris, WJ McKenna - Nature clinical practice cardiovascular …, 2008 - nature.com
Hypertrophic cardiomyopathy (HCM), defined clinically by the presence of unexplained left
ventricular hypertrophy, is the most common inherited cardiac disorder. This condition is the …
ventricular hypertrophy, is the most common inherited cardiac disorder. This condition is the …
Phenotypic diversity in hypertrophic cardiomyopathy
M Arad, JG Seidman, CE Seidman - Human molecular genetics, 2002 - academic.oup.com
In recent years, the main focus of human genetic studies on hypertrophic cardiomyopathy
(HCM) switched from discovering novel genes and defining disease-causing mutations to …
(HCM) switched from discovering novel genes and defining disease-causing mutations to …
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
G Millat, P Bouvagnet, P Chevalier, C Dauphin… - European journal of …, 2010 - Elsevier
Hypertrophic Cardiomyopathy (HCM), a common and clinically heterogeneous disease
characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden …
characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden …
Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy
T Arimura, JM Bos, A Sato, T Kubo, H Okamoto… - Journal of the American …, 2009 - jacc.org
Objectives: The purpose of this study was to explore a novel disease gene for hypertrophic
cardiomyopathy (HCM) and to evaluate functional alterations caused by mutations …
cardiomyopathy (HCM) and to evaluate functional alterations caused by mutations …
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
M Alders, R Jongbloed, W Deelen… - European Heart …, 2003 - academic.oup.com
Aims Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes that encode
sarcomeric proteins. In this study we investigated the involvement of the sarcomeric myosin …
sarcomeric proteins. In this study we investigated the involvement of the sarcomeric myosin …