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Updated: Jul 12, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Arrhythmogenic Left Ventricular Cardiomyopathy Associated With a Phospholamban Gene Mutation in a Young Female: A

Wahab J Khan1, Muhammad Asif1, Hammad S Chaudhry1

  • 1University of South Dakota Sanford School of Medicine, Sioux Falls, SD, USA.

Journal of Community Hospital Internal Medicine Perspectives
|October 23, 2023
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) involves fibrofatty scarring of the heart muscle, increasingly affecting the left ventricle (LV). Phospholamban (PLN) mutations can cause severe arrhythmias, necessitating ICD implantation for primary prevention.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is a myocardial disease characterized by fibrofatty replacement of heart muscle.
  • Historically, arrhythmogenic right ventricular cardiomyopathy (ARVC) was thought to primarily affect the right ventricle, with minimal left ventricular (LV) involvement.

Observation:

  • Recent studies recognize significant LV involvement in ACM, presenting with early arrhythmias rather than heart failure symptoms.
  • ACM can manifest as right ventricular, biventricular, or left ventricular disease.
  • Pathophysiology involves desmosomal or non-desmosomal mutations, with Phospholamban (PLN) mutations linked to severe arrhythmias and sudden cardiac death (SCD).

Findings:

  • Phospholamban (PLN) mutations are associated with more severe arrhythmias and SCD in ACM patients.
  • Primary prevention with implantable cardioverter-defibrillator (ICD) implantation is recommended for ACM patients, even with ejection fraction >35%.

Implications:

  • Early recognition of LV involvement in ACM is crucial for timely diagnosis and management.
  • ICD implantation is a key primary prevention strategy for high-risk ACM patients.
  • Advanced heart failure therapies should be considered for ACM patients progressing to Stage D heart failure.

Keywords:
ArrhythmiaCardiomyopathyGenetic mutationsHeart failurePhospholamban

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