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

  • Updates in Advanced Heart Failure (E. Rame and M. St. John Sutton, Section Editors)
  • Published:
Current Heart Failure Reports Aims and scope Submit manuscript

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.

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  1. Division of Cardiovascular Medicine, Department of Medicine, and Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Cardiovascular Institute, Philadelphia, PA, 19104, USA

    Nosheen Reza & Anjali Tiku Owens

  2. Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, 11 South Pavilion, Room 11-134, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA

    Kiran Musunuru

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Dr. Reza is supported by the NIH National Human Genome Research Institute Ruth L. Kirschstein Institutional National Research Service T32 Award in Genomic Medicine (T32 HG009495). Dr. Owens is supported by the Winkelman Family Fund in Cardiovascular Innovation. Dr. Musunuru declares no conflict of interest.

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Reza, N., Musunuru, K. & Owens, A.T. From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies. Curr Heart Fail Rep 16, 157–167 (2019). https://doi.org/10.1007/s11897-019-00435-0

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