The recommendations listed in this guideline are, whenever possible, evidence based. An
initial extensive evidence review, which included literature derived from research involving …

Aim This executive summary of the hypertrophic cardiomyopathy clinical practice guideline
provides recommendations and algorithms for clinicians to diagnose and manage …

Advances in human genetics are improving the understanding of a variety of inherited
cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular …

Genetic sequencing technologies are evolving at a rapid pace with major implications for
research and clinical practice. In this review, the authors provide an updated overview of …

Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

Disclaimer: This points to consider document is designed primarily as an educational
resource for medical geneticists and other clinicians to help them provide quality medical …

Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole
exome sequencing (WES); however, additional diagnostic yields and costs remain …

Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are
often associated with increased risk of sudden death in the young. Early linkage analysis …

Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …

Hypertrophic cardiomyopathy (HCM) has been considered a heterogeneous cardiac
disease ascribed solely to single sarcomere gene mutations. However, limitations of this …