Clinical and mechanistic insights into the genetics of cardiomyopathy

MA Burke, SA Cook, JG Seidman… - Journal of the American …, 2016 - jacc.org
Over the last quarter-century, there has been tremendous progress in genetics research that
has defined molecular causes for cardiomyopathies. More than a thousand mutations have …

Hypertrophic cardiomyopathy

P Elliott, WJ McKenna - The Lancet, 2004 - thelancet.com
Hypertrophic cardiomyopathy is a common genetically transmitted disease, defined clinically
by the presence of unexplained left ventricular hypertrophy. The disease has a varied …

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 …

Inherited cardiomyopathies

JA Towbin - Circulation Journal, 2014 - jstage.jst.go.jp
Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity and
mortality. A significant percentage of patients with cardiomyopathies have genetic-based …

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

R Alcalai, JG Seidman… - Journal of cardiovascular …, 2008 - Wiley Online Library
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder that
characterized by marked thickening of the left ventricular wall that occurs in the absence of …

Hypertrophic cardiomyopathy: an overview of genetics and management

P Teekakirikul, W Zhu, HC Huang, E Fung - Biomolecules, 2019 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle
disorder with a diverse natural history, characterized by unexplained left ventricular …

Mechanisms of disease: hypertrophic cardiomyopathy

N Frey, M Luedde, HA Katus - Nature Reviews Cardiology, 2012 - nature.com
Hypertrophic cardiomyopathy (HCM) is the most-common monogenically inherited form of
heart disease, characterized by thickening of the left ventricular wall, contractile dysfunction …

[HTML][HTML] Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era

P Teekakirikul, MA Kelly, HL Rehm… - The Journal of Molecular …, 2013 - Elsevier
Inherited cardiomyopathies include hypertrophic cardiomyopathy, dilated cardiomyopathy,
arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and …

Biology of the cardiac myocyte in heart disease

AK Peter, MA Bjerke, LA Leinwand - Molecular biology of the cell, 2016 - Am Soc Cell Biol
Cardiac hypertrophy is a major risk factor for heart failure, and it has been shown that this
increase in size occurs at the level of the cardiac myocyte. Cardiac myocyte model systems …

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

B Mohapatra, S Jimenez, JH Lin, KR Bowles… - Molecular genetics and …, 2003 - Elsevier
Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have
been identified for the X-linked forms (dystrophin and tafazzin), while mutations in multiple …