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

Nosheen Reza1, Kiran Musunuru2, Anjali Tiku Owens3

  • 1Division 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@pennmedicine.upenn.edu.

Current Heart Failure Reports
|June 28, 2019
PubMed

Insights

Recent advances in inherited cardiomyopathies, including hypertrophic, dilated, and arrhythmogenic types, are improving patient care. Genetic insights and novel therapies are enhancing diagnosis and treatment for these cardiovascular diseases.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Precision Medicine

Background:

  • Inherited cardiomyopathies, including hypertrophic, dilated, and arrhythmogenic forms, represent a significant burden of cardiovascular disease.
  • Advances in genetic and genomic understanding are transforming the diagnosis and management of these conditions.

Purpose of the Study:

  • To review recent developments in the research and clinical care of major inherited cardiomyopathies.
  • To discuss progress in genetics, risk stratification, therapies, and disease modeling.

Main Methods:

  • Review of current literature on genetic cardiomyopathies.
  • Analysis of emerging diagnostic, prognostic, and therapeutic tools.
  • Discussion of human pluripotent stem cells as disease models.

Main Results:

  • Genetic and genomic data are increasingly integrated into clinical practice.
  • Next-generation sequencing and molecular diagnostics are improving patient recognition and care.
  • Human pluripotent stem cells offer a powerful platform for studying disease mechanisms.

Conclusions:

  • Precision medicine approaches are revolutionizing the care of inherited cardiomyopathies.
  • Challenges remain in variant pathogenicity adjudication and managing genotype-positive/phenotype-negative individuals.
  • Continued research is crucial for further improving outcomes in genetic cardiomyopathies.
Abstract

Keywords:
Arrhythmogenic right ventricular dysplasiaDilated cardiomyopathyGenetic testingGenomicsHypertrophic cardiomyopathyPluripotent stem cells

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