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Case Reports
. 2025 Jun;197(6):e64027.
doi: 10.1002/ajmg.a.64027. Epub 2025 Feb 25.

Myotonic Dystrophy and Stress Induced Cardiomyopathy: A Case Series

Anindita Chanda  1 , Damla C Gonullu-Rotman  2   3 , Mohammed Elsadany  4 , Stephanie Saucier  4 , Irina Sobol  5 , Shudhanshu Alishetti  6 , Ningxin Wan  6 , Sean R McMahon  4 , Omar A Abdul-Rahman  2
Affiliations
Case Reports

Myotonic Dystrophy and Stress Induced Cardiomyopathy: A Case Series

Anindita Chanda et al. Am J Med Genet A. 2025 Jun.

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder with a broad spectrum of systemic manifestations, including cardiac abnormalities. Takotsubo cardiomyopathy, a form of stress-induced transient heart failure, is not typically associated with DM1, and its occurrence in this patient population remains poorly characterized. This case series aims to describe two instances of Takotsubo cardiomyopathy in patients with DM1, highlighting potential links between the neuromuscular and cardiac pathophysiology of DM1 and stress-induced cardiomyopathy. We reviewed the clinical presentation, diagnostic findings, and outcomes of two patients with genetically confirmed DM1 who developed Takotsubo cardiomyopathy. Data were collected from medical records, including electrocardiograms, echocardiograms, cardiac biomarkers, and imaging studies. A review of the literature was conducted to contextualize the findings. The two patients presented in this case series exhibited distinct triggers and clinical presentations. The first patient, a 39-year-old woman, developed chest pain following intractable nausea and vomiting, while the second patient, a 62-year-old woman, experienced palpitations after the emotional stress of her 28-year-old daughter's passing. Despite these differing triggers, both cases showed imaging findings characteristic of Takotsubo cardiomyopathy, including left ventricular apical ballooning and reduced ejection fraction. Both patients were diagnosed with DM1, and their cardiac functions fully recovered within weeks. This case series highlights the importance of recognizing Takotsubo cardiomyopathy as a potential cardiac complication in patients with DM1. Shared neuromuscular and cardiac pathophysiology between DM1 and Takotsubo cardiomyopathy warrants further investigation to elucidate underlying mechanisms and guide management strategies.

Keywords: Takotsubo cardiomyopathy; myotonic dystrophy type 1; stress‐induced cardiomyopathy.

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References

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