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 …

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 …

Mitral valve abnormalities identified by cardiovascular magnetic resonance represent a primary phenotypic expression of hypertrophic cardiomyopathy

MS Maron, I Olivotto, C Harrigan, E Appelbaum… - Circulation, 2011 - Am Heart Assoc
Background—Whether morphological abnormalities of the mitral valve represent part of the
hypertrophic cardiomyopathy (HCM) disease process is unresolved. Therefore, we applied …

Genetic advances in sarcomeric cardiomyopathies: state of the art

CY Ho, P Charron, P Richard, F Girolami… - Cardiovascular …, 2015 - academic.oup.com
Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere
mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also …

Genetics of inherited cardiomyopathy

D Jacoby, WJ McKenna - European heart journal, 2012 - academic.oup.com
During the past two decades, numerous disease-causing genes for different
cardiomyopathies have been identified. These discoveries have led to better understanding …

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 …

Abnormalities in sodium current and calcium homoeostasis as drivers of arrhythmogenesis in hypertrophic cardiomyopathy

R Coppini, L Santini, I Olivotto… - Cardiovascular …, 2020 - academic.oup.com
Hypertrophic cardiomyopathy (HCM) is a common inherited monogenic disease with a
prevalence of 1/500 in the general population, representing an important cause of …

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 …

Genetics of hypertrophic cardiomyopathy

T Konno, S Chang, JG Seidman… - Current opinion in …, 2010 - journals.lww.com
The current repertoire of HCM genes allows effective gene-based diagnosis, information that
enables accurate assessment of disease risk in family members, and provides some insight …

Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

JM Bos, RN Poley, M Ny, DJ Tester, X Xu… - Molecular genetics and …, 2006 - Elsevier
BACKGROUND: TTN-encoded titin, CSRP3-encoded muscle LIM protein, and TCAP-
encoded telethonin are Z-disc proteins essential for the structural organization of the cardiac …