Myocarditis-Like Presentation Leads to DSP Arrhythmogenic Cardiomyopathy Diagnosis: From Variant of Uncertain Significance to Diagnosis.

Authors

Olivia DeLorenzo, Farid Farkouh, Ibrahim Alameh, Cristina Nixon, John Clark, Harish Jarrett

Published in

JACC. Case reports. Pages 110442. Sep 25, 2026. Epub Sep 25, 2026.

Abstract

Variants of uncertain significance (VUS) are frequently identified during genetic testing for suspected cardiomyopathy but are often treated as static findings. However, reclassification of genetic variants can alter diagnosis and management.
A 38-year-old woman presented with chest pain and elevated troponin with normal coronary arteries. Cardiac magnetic resonance (CMR) revealed multifocal nonischemic late gadolinium enhancement. Genetic testing identified a desmoplakin (DSP) VUS. Follow-up CMR demonstrated persistent late gadolinium enhancement, and the DSP variant was reclassified as likely pathogenic, establishing the diagnosis of DSP cardiomyopathy and prompting arrhythmic surveillance and family screening.
Reclassification of a VUS represents a pivotal diagnostic moment, transforming an indeterminate myocarditis-like presentation into a defined genetic cardiomyopathy. Therefore, reassessment of genetic variants should be incorporated into clinical care pathways.
Myocarditis-like presentations may reflect early manifestations of genetic cardiomyopathy. Longitudinal integration of CMR and genetic reassessment is essential for accurate diagnosis and management.

PMID:
42788911
Bibliographic data and abstract were imported from PubMed on 25 Sep 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.