Myocarditis-Like Presentation Leads to DSP Arrhythmogenic Cardiomyopathy Diagnosis

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Myocarditis-like presentation (n=1). Intervention: Genetic testing and variant reclassification.

Q: What does this research mean for the field?

Myocarditis-like presentations can represent early clinical manifestations of desmoplakin (DSP) arrhythmogenic cardiomyopathy that are uncoverable via longitudinal cardiac MRI and periodic genetic variant reclassification. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Olivia R DeLorenzo; Farid Farkouh; Ibrahim A. Alameh; Cristina Nixon; John Clark; Harish Jarrett

doi:10.1016/j.jaccas.2026.110442

September 1, 2026JACC Case ReportsOpen Access

Myocarditis-Like Presentation Leads to DSP Arrhythmogenic Cardiomyopathy Diagnosis

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Key result

Desmoplakin variant reclassification confirms arrhythmogenic cardiomyopathy in suspected myocarditis.

n=1

Graphical abstract published by JACC Case Reports — Graphical abstract · Published by JACC Case Reports · CC BY-NC-ND 4.0

Why the study?

Variants of uncertain significance are frequently identified during genetic testing for suspected cardiomyopathy but are often treated as static findings, despite potential for reclassification to alter diagnosis and management.

Key Points

To describe how dynamic genetic variant reinterpretation and follow-up cardiac imaging transformed an apparent acute myocarditis presentation into a definitive diagnosis of inherited cardiomyopathy.
Evaluated a 38-year-old female presenting with chest pain, elevated cardiac troponin, and angiographically normal coronary arteries.
Performed baseline and follow-up cardiac magnetic resonance (CMR) imaging to evaluate myocardial tissue characteristics and late gadolinium enhancement.
Conducted initial genetic sequencing and longitudinal reassessment of a desmoplakin (DSP) variant.
Cardiac magnetic resonance demonstrated persistent multifocal nonischemic late gadolinium enhancement on follow-up imaging.
The DSP variant of uncertain significance was formally reclassified to likely pathogenic, establishing a diagnosis of DSP arrhythmogenic cardiomyopathy.
Definitive diagnosis directed targeted clinical management, including long-term arrhythmic surveillance and cascade genetic screening for family members.

Study Design

Type

Case Report (n=1)

Structured PICO

P

Population

A 38-year-old woman presenting with a myocarditis-like syndrome and a desmoplakin variant of uncertain significance.

E

Exposure

Genetic testing, longitudinal cardiac magnetic resonance (CMR), and genetic variant reassessment

O

Outcome

Diagnosis of desmoplakin (DSP) cardiomyopathy via reclassification of a genetic variant of uncertain significance

Implication

Longitudinal reassessment of genetic variants of uncertain significance is crucial as it can transform an indeterminate myocarditis-like presentation into a definitive diagnosis of genetic cardiomyopathy.

Abstract

BACKGROUND: 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. CASE SUMMARY: 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. DISCUSSION: 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. TAKE-HOME MESSAGES: Myocarditis-like presentations may reflect early manifestations of genetic cardiomyopathy. Longitudinal integration of CMR and genetic reassessment is essential for accurate diagnosis and management.

Discussion

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Cite This Study

DeLorenzo et al. (2026) conducted a case report in Myocarditis-like presentation (n=1). Genetic testing and variant reclassification was evaluated. Reclassification of a desmoplakin variant of uncertain significance established a diagnosis of arrhythmogenic cardiomyopathy in a patient presenting with suspected myocarditis.

synapsesocial.com/papers/6ad0fd263afa093ea9ad0281 https://doi.org/10.1016/j.jaccas.2026.110442

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Myocarditis-Like Presentation Leads to DSP Arrhythmogenic Cardiomyopathy Diagnosis

Key Points

Study Design

Structured PICO

Implication

Abstract

Discussion

Cite This Study

Myocarditis-Like Presentation Leads to DSP Arrhythmogenic Cardiomyopathy Diagnosis

Key Points

Study Design

Structured PICO

Implication

Abstract

Discussion

Cite This Study

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