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Acute Myocarditis Associated With Desmosomal Gene Variants

Enrico Ammirati1, Francesca Raimondi2, Nicolas Piriou3

  • 1De Gasperis Cardio Center, Niguarda Hospital, Milano, Italy.

JACC. Heart Failure
|September 29, 2022
PubMed

Insights

Patients with acute myocarditis and desmosomal gene variants face a significantly higher risk of adverse cardiovascular events, including heart failure and arrhythmias. Genetic testing may aid in risk stratification for these patients.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • The cardiovascular risk associated with acute myocarditis (AM) in patients carrying desmosomal gene variants (DGV) is not well-established.
  • Understanding this risk is crucial for patient management and prognostication.

Purpose of the Study:

  • To determine the risk of major adverse cardiovascular events, including death, ventricular arrhythmias, recurrent myocarditis, and heart failure, in patients with AM and pathogenic or likely pathogenetic DGV.

Main Methods:

  • A retrospective international study involving 97 patients with AM across 23 hospitals.
  • Patients were categorized into three groups: AM with DGV (DGV[+]), AM with negative genetic testing (DGV[-]), and AM without genetic testing.
  • Cardiac magnetic resonance (CMR) was used for diagnosis and reassessment of cardiac function and structure in 86 patients.

Main Results:

  • Patients with AM and DGV (primarily DSP variants) showed a significantly higher 5-year incidence of the main endpoint (62.3%) compared to those without DGV (17.5%) or without genetic testing (5.3%) (P < 0.0001).
  • This increased risk was primarily driven by myocarditis recurrence and ventricular arrhythmias.
  • Follow-up CMR revealed more late gadolinium-enhanced segments in the DGV(+) AM group, indicating greater myocardial scarring.

Conclusions:

  • Patients with AM and evidence of DGV experience a higher rate of adverse cardiovascular events than those with AM but without DGV.
  • Further prospective research is warranted to evaluate the utility of genetic testing in refining risk stratification for AM patients, particularly those initially assessed as low-risk.
Abstract

Keywords:
acute myocarditiscardiac magnetic resonancedesmoplakindesmosomal gene variantsprognosis

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