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 …

Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

BJ Maron, MS Maron, C Semsarian - Journal of the American College of …, 2012 - jacc.org
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 …

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American …

BJ Gersh, BJ Maron, RO Bonow, JA Dearani… - Journal of the American …, 2011 - jacc.org
1.1. Methodology and Evidence Review The recommendations listed in this document are,
whenever possible, evidence based. An extensive evidence review was conducted through …

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership …

MJ Ackerman, SG Priori, S Willems, C Berul… - Europace, 2011 - academic.oup.com
1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology …

BJ Gersh, BJ Maron, RO Bonow, JA Dearani, MA Fifer… - Circulation, 2011 - ahajournals.org
The recommendations listed in this document are, whenever possible, evidence based. An
extensive evidence review was conducted through January 2011. Searches were limited to …

Inherited cardiomyopathies

H Watkins, H Ashrafian… - New England Journal of …, 2011 - Mass Medical Soc
Inherited Cardiomyopathies | New England Journal of Medicine Skip to main content The New
England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology …

[PDF][PDF] 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

PM Elliott, A Anastasakis, MA Borger… - Polish Heart …, 2014 - journals.viamedica.pl
Kardiomiopatie definiuje się jako strukturalne oraz funkcjonalne nieprawidłowości mięśnia
komór, które nie wynikają z niedokrwienia na skutek choroby wieńcowej czy …

Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals

F Sedaghat-Hamedani, E Kayvanpour… - Clinical Research in …, 2018 - Springer
Background Hypertrophic cardiomyopathy (HCM) is the most common genetic
cardiovascular disease, which goes along with increased risk for sudden cardiac death …

Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies

AG Jolfayi, E Kohansal, S Ghasemi, N Naderi… - Scientific Reports, 2024 - nature.com
The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for
the components of the contractile machinery which plays a crucial role in muscle disorders …