A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with a DES Gene Variant: A Case Report

Meng, Qi; Li, Wei; Ding, Wenhong; Wang, Hui; Chen, Dong; Han, Ling; Li, Yifei; Dai, Chencheng

doi:10.3390/jcdd13040162

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A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with a DES Gene Variant: A Case Report

by

Qi Meng

¹,

Wei Li

¹,

Wenhong Ding

¹,

Hui Wang

²

,

Dong Chen

³,

Ling Han

¹,

Yifei Li

^4,*

and

Chencheng Dai

^1,*

¹

Department of Pediatric Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China

²

Department of Pathology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China

³

Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China

⁴

Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China

^*

Authors to whom correspondence should be addressed.

J. Cardiovasc. Dev. Dis. 2026, 13(4), 162; https://doi.org/10.3390/jcdd13040162

Submission received: 17 February 2026 / Revised: 28 March 2026 / Accepted: 29 March 2026 / Published: 8 April 2026

(This article belongs to the Topic Molecular and Cellular Mechanisms of Heart Disease)

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Abstract

Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by fibrofatty replacement of cardiomyocytes. The inflammatory episodes of ACM, known as the “hot phase”, can mimic acute myocarditis. It was seldom observed in a DES-associated ACM as a “hot-phase” presentation. Case Presentation: The proband, a 13-year-old female, initially presented with a series of clinical manifestations of fulminant myocarditis. Although recommendation-guided anti-immunotherapy had been provided, this patient still developed into an aggressive cardiomyopathy with biventricular dilation and severe systolic heart failure. Additionally, cardiac magnetic resonance demonstrated circumferential late gadolinium enhancement in left ventricular myocardium with diffuse fibrosis. Whole-exon sequencing identified a de novo missense variant, as c.335T>A (p.L112Q) of the DES gene, resulting in protein dysfunction. And a diagnosis of ACM due to a DES variant had been identified. Finally, this patient received heart transplantation, and biventricular fibrofatty infiltration was confirmed by pathological analysis. Conclusions: This case presented a de novo genetic variant that can induce severe and aggressive heart failure. This finding emphasizes the importance of comprehensive genetic analysis in patients suspected of having fulminant myocarditis, which would greatly benefit the precise clinical management and outcomes.

Keywords: DES; cardiomyopathy; myocardial fibrosis; myocarditis; hot-phase cardiomyopathy

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MDPI and ACS Style

Meng, Q.; Li, W.; Ding, W.; Wang, H.; Chen, D.; Han, L.; Li, Y.; Dai, C. A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with a DES Gene Variant: A Case Report. J. Cardiovasc. Dev. Dis. 2026, 13, 162. https://doi.org/10.3390/jcdd13040162

AMA Style

Meng Q, Li W, Ding W, Wang H, Chen D, Han L, Li Y, Dai C. A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with a DES Gene Variant: A Case Report. Journal of Cardiovascular Development and Disease. 2026; 13(4):162. https://doi.org/10.3390/jcdd13040162

Chicago/Turabian Style

Meng, Qi, Wei Li, Wenhong Ding, Hui Wang, Dong Chen, Ling Han, Yifei Li, and Chencheng Dai. 2026. "A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with a DES Gene Variant: A Case Report" Journal of Cardiovascular Development and Disease 13, no. 4: 162. https://doi.org/10.3390/jcdd13040162

APA Style

Meng, Q., Li, W., Ding, W., Wang, H., Chen, D., Han, L., Li, Y., & Dai, C. (2026). A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with a DES Gene Variant: A Case Report. Journal of Cardiovascular Development and Disease, 13(4), 162. https://doi.org/10.3390/jcdd13040162

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A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with a DES Gene Variant: A Case Report

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