JACC. Case reports · 2026
Myocarditis-Like Presentation Leads to DSP Arrhythmogenic Cardiomyopathy Diagnosis: From Variant of Uncertain Significance to Diagnosis.
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DeLorenzo Olivia, Farkouh Farid, Alameh Ibrahim, Nixon Cristina, Clark John, Jarrett Harish
Аннотация
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.
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.