2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American …

SR Ommen, S Mital, MA Burke, SM Day… - Journal of the American …, 2020 - jacc.org
The recommendations listed in this guideline are, whenever possible, evidence based. An
initial extensive evidence review, which included literature derived from research involving …

2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: executive summary: a report of the American College of …

SR Ommen, S Mital, MA Burke, SM Day… - Journal of the American …, 2020 - jacc.org
Aim This executive summary of the hypertrophic cardiomyopathy clinical practice guideline
provides recommendations and algorithms for clinicians to diagnose and manage …

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 …

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

K Nykamp, M Anderson, M Powers, J Garcia… - Genetics in …, 2017 - nature.com
Purpose The 2015 American College of Medical Genetics and Genomics–Association for
Molecular Pathology (ACMG–AMP) guidelines were a major step toward establishing a …

Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline

RE Hershberger, MM Givertz, CY Ho, DP Judge… - Journal of cardiac …, 2018 - Elsevier
This guideline describes the approach and expertise needed for the genetic evaluation of
cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the …

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

R Walsh, KL Thomson, JS Ware, BH Funke… - Genetics in …, 2017 - nature.com
Purpose: The accurate interpretation of variation in Mendelian disease genes has lagged
behind data generation as sequencing has become increasingly accessible. Ongoing large …

Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine

BJ Maron, SR Ommen, C Semsarian, P Spirito… - Journal of the American …, 2014 - jacc.org
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with diverse
phenotypic and genetic expression, clinical presentation, and natural history. HCM has been …

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

RE Hershberger, MM Givertz, CY Ho, DP Judge… - Genetics in …, 2018 - nature.com
Purpose The purpose of this document is to provide updated guidance for the genetic
evaluation of cardiomyopathy and for an approach to manage secondary findings from …

Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy

RD Bagnall, J Ingles, ME Dinger, MJ Cowley… - Journal of the American …, 2018 - jacc.org
Background: Whole genome sequencing (WGS) is a comprehensive genetic testing
approach that reports most types of nucleotide variants. Objectives: This study sought to …

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 …