Familial arrhythmogenic cardiomyopathy presenting with aborted sudden cardiac arrest in an adolescent: a novel <i>DSP</i> variant
Arrhythmogenic cardiomyopathy is a rare genetic disorder linked to malignant arrhythmias and sudden cardiac death. We report a 15-year-old girl presenting with sudden cardiac arrest. Imaging suggested left-dominant arrhythmogenic cardiomyopathy, and genetic testing identified a novel DSP variant. Cardioverter-defibrillator implantation was performed. Family screening revealed affected relatives, highlighting the importance of early diagnosis and risk stratification.
Authors
- Ana Raquel Marques (ORCID: https://orcid.org/0000-0002-1524-1398)
- Joana Pimenta (ORCID: https://orcid.org/0000-0003-4930-0234)
- João Antunes Sarmento (ORCID: https://orcid.org/0000-0002-6593-2920)
- Ana Grangeia
Institutions
- Universidade do Porto (PT)
- Hospital de São João (PT)
Publication Details
- Journal
- Cardiology in the Young
- Published
- 2026-07-27
- DOI
- https://doi.org/10.1017/s1047951126123725
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 0.00