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 …

A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Aim Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until
now technological limitations have hindered elucidation of the contribution of all clinically …

Mammalian models including non‐human primates, pigs and rodents have been used
extensively to study the mechanisms of cardiovascular disease. However, there is an …

Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

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 …

Background: Peripartum cardiomyopathy (PPCM) occurs in≈ 1: 2000 deliveries in the
United States and worldwide. The genetic underpinnings of PPCM remain poorly defined …