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Review
. 2019 Oct;16(5):157-167.
doi: 10.1007/s11897-019-00435-0.

From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies

Nosheen Reza  1 , Kiran Musunuru  2 , Anjali Tiku Owens  3
Affiliations
Review

From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies

Nosheen Reza et al. Curr Heart Fail Rep. 2019 Oct.

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. 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.

Keywords: Arrhythmogenic right ventricular dysplasia; Dilated cardiomyopathy; Genetic testing; Genomics; Hypertrophic cardiomyopathy; Pluripotent stem cells.

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Figure 1
Human pluripotent stem cells for modeling of genetic cardiomyopathies
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