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Myopathic Cardiac Genotypes Increase Risk for Myocarditis
Amy R Kontorovich1,2, Nihir Patel2,3, Arden Moscati4
1Zena and Michael A. Weiner Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
JACC. Basic to Translational Science
|August 9, 2021
Summary
Genetic variants in cardiac genes increase myocarditis risk. Genomic sequencing revealed significant differences between acute myocarditis patients and controls, highlighting the need for genetic testing.
Area of Science:
- Genetics
- Cardiology
- Genomic Medicine
Background:
- Genetic factors are implicated in pediatric myocarditis.
- The role of genetic variants in adult acute myocarditis requires further investigation.
Purpose of the Study:
- To assess the association between deleterious variants in cardiac genes and acute myocarditis in adult patients.
- To identify specific genes associated with increased risk.
Main Methods:
- Genomic sequencing was performed on adult patients diagnosed with acute myocarditis.
- Matched control subjects were included for comparison.
- Analysis focused on putatively deleterious variants in a broad set of cardiac genes.
Main Results:
- Significantly more acute myocarditis cases (19/117) carried deleterious variants compared to controls (34/468) (P = 0.003).
- Thirteen genes, including DYSF, DSP, and TTN, were implicated.
- No significant phenotypic differences were observed between myocarditis patients with or without deleterious variants.
Conclusions:
- Genetic testing is crucial for differentiating acute myocarditis cases, especially when variants are present.
- Specific gene variants, particularly in DYSF, DSP, and TTN, are associated with increased risk of acute myocarditis.
Keywords:
ACM, arrhythmogenic cardiomyopathyAM, acute myocarditisAM1, acute myocarditis registry 1CMP, cardiomyopathyDV, deleterious variantEF, ejection fractionES, exome sequencingNMD, neuromuscular disorderOR, odds ratioTGP, targeted gene panelacute myocarditiscardiomyopathygeneticsMore Related Videos
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