Published in:
01-10-2019 | Sudden Cardiac Death | Updates in Advanced Heart Failure (E. Rame and M. St. John Sutton, Section Editors)
From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies
Authors:
Nosheen Reza, Kiran Musunuru, Anjali Tiku Owens
Published in:
Current Heart Failure Reports
|
Issue 5/2019
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Abstract
Purpose
The purpose of this review is to provide an update on the recent advances in the research and clinical care of patients with the major phenotypes of inherited cardiomyopathies—hypertrophic, dilated, and arrhythmogenic. Developments in genetics, risk stratification, therapies, and disease modeling will be discussed.
Recent
Diagnostic, prognostic, and therapeutic tools which incorporate genetic and genomic data are being steadily incorporated into the routine clinical care of patients with genetic cardiomyopathies. Human pluripotent stem cells are a breakthrough model system for the study of genetic variation associated with inherited cardiovascular disease.
Summary
Next-generation sequencing technology and molecular-based diagnostics and therapeutics have emerged as valuable tools to improve the recognition and care of patients with hypertrophic, dilated, and arrhythmogenic cardiomyopathies. Improved adjudication of variant pathogenicity and management of genotype-positive/phenotype-negative individuals are imminent challenges in this realm of precision medicine.