2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College …

SM Al-Khatib, WG Stevenson, MJ Ackerman… - Journal of the American …, 2018 - jacc.org
The recommendations listed in this clinical practice guideline are, whenever possible,
evidence-based. An initial extensive evidence review, which included literature derived from …

Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy

AJ Marian, E Braunwald - Circulation research, 2017 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …

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, MA Fifer… - Circulation, 2011 - Am Heart Assoc
The recommendations listed in this document are, whenever possible, evidence based. An
extensive evidence review was conducted through January 2011. Searches were limited to …

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 - Am Heart Assoc
The recommendations listed in this document are, whenever possible, evidence based. An
extensive evidence review was conducted through January 2011. Searches were limited to …

Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology

PM Seferović, M Polovina, J Bauersachs… - European journal of …, 2019 - Wiley Online Library
Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important
cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural …

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's …

MA Kelly, C Caleshu, A Morales, J Buchan, Z Wolf… - Genetics in …, 2018 - nature.com
Purpose Integrating genomic sequencing in clinical care requires standardization of variant
interpretation practices. The Clinical Genome Resource has established expert panels 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 …

Genetic mutations and mechanisms in dilated cardiomyopathy

EM McNally, JR Golbus… - The Journal of clinical …, 2013 - Am Soc Clin Investig
Genetic mutations account for a significant percentage of cardiomyopathies, which are a
leading cause of congestive heart failure. In hypertrophic cardiomyopathy (HCM), cardiac …