Case Report: Suspected biventricular arrhythmogenic cardiomyopathy presenting as a dilated cardiomyopathy-like phenotype with multimodal phenotyping and cautious genetic interpretation
6 affiliations
- 1Department of Cardiology, Gansu Provincial Hospital
- 2Department of Ultrasound Medicine, Gansu Provincial Hospital
- 3School of Public Health, Gansu University of Chinese Medicine
- 4Department of Clinical Laboratory, Gansu Provincial Hospital
- 5Department of Cardiology, Baiyin Hospital of Integrated Traditional Chinese and Western Medicine
- 6Department of Radiology, Huining People’s Hospital
Abstract
Arrhythmogenic cardiomyopathy (ACM) may overlap clinically with dilated cardiomyopathy (DCM), particularly when left ventricular dilatation and systolic dysfunction dominate the presentation. We report a 47-year-old man initially diagnosed with DCM whose subsequent multimodal assessment suggested a biventricular ACM (BiV-ACM) phenotype. The clinical assessment integrated clinical history, electrocardiography, ambulatory rhythm monitoring, echocardiography, and cardiac magnetic resonance (CMR) imaging. Findings included marked left ventricular dilatation, severe systolic dysfunction, frequent multifocal ventricular ectopy, nonsustained ventricular tachycardia, right ventricular dysfunction, and biventricular nonischemic myocardial abnormalities on CMR. These phenotypic findings, rather than genetic results, formed the basis of the clinical impression. Whole-exome sequencing performed during follow-up identified four heterozygous variants of uncertain significance, including the truncating DSP variant NM_004415.4:c.7423A>T [p.(Lys2475Ter)]. None provided molecular confirmation. Over approximately 2 years of medical treatment and follow-up, left ventricular ejection fraction increased from 28.9% to 35%, and peak oxygen uptake increased from 24.4 to 26.7 mL/kg/min, while ventricular arrhythmias persisted. These observations do not establish an intervention-specific treatment effect. This case highlights the value of phenotype-based multimodal assessment in DCM-like presentations and the importance of distinguishing uncertain genetic findings from diagnostic evidence.
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BibTeX
@article{wang2026case,
title = {{Case Report: Suspected biventricular arrhythmogenic cardiomyopathy presenting as a dilated cardiomyopathy-like phenotype with multimodal phenotyping and cautious genetic interpretation}},
author = {Juan Wang and Wanxia Xie and Tingting Zhu and Ruizhi Li and Lei Hu and Xiaorun Mao and Yali Hou and Yubo Liang},
journal = {Frontiers in Cardiovascular Medicine},
year = {2026},
month = nov,
doi = {10.3389/fcvm.2026.2002554},
url = {https://www.frontiersin.org/articles/10.3389/fcvm.2026.2002554/full},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Case Report: Suspected biventricular arrhythmogenic cardiomyopathy presenting as a dilated cardiomyopathy-like phenotype with multimodal phenotyping and cautious genetic interpretation
AU - Juan Wang
AU - Wanxia Xie
AU - Tingting Zhu
AU - Ruizhi Li
AU - Lei Hu
AU - Xiaorun Mao
AU - Yali Hou
AU - Yubo Liang
PY - 2026
DA - 2026/11/09
JO - Frontiers in Cardiovascular Medicine
DO - 10.3389/fcvm.2026.2002554
UR - https://www.frontiersin.org/articles/10.3389/fcvm.2026.2002554/full
AB - Arrhythmogenic cardiomyopathy (ACM) may overlap clinically with dilated cardiomyopathy (DCM), particularly when left ventricular dilatation and systolic dysfunction dominate the presentation. We report a 47-year-old man initially diagnosed with DCM whose subsequent multimodal assessment suggested a biventricular ACM (BiV-ACM) phenotype. The clinical assessment integrated clinical history, electrocardiography, ambulatory rhythm monitoring, echocardiography, and cardiac magnetic resonance (CMR) imaging. Findings included marked left ventricular dilatation, severe systolic dysfunction, frequent multifocal ventricular ectopy, nonsustained ventricular tachycardia, right ventricular dysfunction, and biventricular nonischemic myocardial abnormalities on CMR. These phenotypic findings, rather than genetic results, formed the basis of the clinical impression. Whole-exome sequencing performed during follow-up identified four heterozygous variants of uncertain significance, including the truncating DSP variant NM_004415.4:c.7423A>T [p.(Lys2475Ter)]. None provided molecular confirmation. Over approximately 2 years of medical treatment and follow-up, left ventricular ejection fraction increased from 28.9% to 35%, and peak oxygen uptake increased from 24.4 to 26.7 mL/kg/min, while ventricular arrhythmias persisted. These observations do not establish an intervention-specific treatment effect. This case highlights the value of phenotype-based multimodal assessment in DCM-like presentations and the importance of distinguishing uncertain genetic findings from diagnostic evidence.
SN - 2297-055X
ER -