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

Institutions

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
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Familial arrhythmogenic cardiomyopathy presenting with aborted sudden cardiac arrest in an adolescent: a novel DSP variant

Ana Raquel Marques, Joana Pimenta, João Antunes Sarmento, Ana Grangeia
Cardiology in the Young
Cardiovascular Effects of Exercise
article

Familial arrhythmogenic cardiomyopathy presenting with aborted sudden cardiac arrest in an adolescent: a novel DSP variant

Ana Raquel Marques, Joana Pimenta, João Antunes Sarmento, Ana Grangeia
article en

Abstract

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.

Cardiology in the Young
Universidade do Porto (PT), Hospital de São João (PT)
Good health and well-being
Openalex Percentile: Top 9%
Cardiovascular Effects of Exercise
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.