Chanda Anindita, Gonullu-Rotman Damla C, Elsadany Mohammed, Saucier Stephanie, Sobol Irina, Alishetti Shudhanshu, Wan Ningxin, McMahon Sean R, Abdul-Rahman Omar A
Department of Internal Medicine, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.
Am J Med Genet A. 2025 Jun;197(6):e64027. doi: 10.1002/ajmg.a.64027. Epub 2025 Feb 25.
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.
1型强直性肌营养不良（DM1）是一种常染色体显性疾病，具有广泛的全身表现，包括心脏异常。应激性心肌病是一种应激诱导的短暂性心力衰竭，通常与DM1无关，在该患者群体中的发生情况仍未得到充分描述。本病例系列旨在描述DM1患者中两例应激性心肌病的情况，强调DM1的神经肌肉和心脏病理生理学与应激性心肌病之间的潜在联系。我们回顾了两名经基因确诊为DM1并发生应激性心肌病患者的临床表现、诊断结果和预后。数据收集自病历，包括心电图、超声心动图、心脏生物标志物和影像学检查。进行文献综述以将研究结果置于背景中。本病例系列中的两名患者表现出不同的诱发因素和临床表现。第一名患者是一名39岁女性，在顽固性恶心和呕吐后出现胸痛，而第二名患者是一名62岁女性，在其28岁女儿去世的情感应激后出现心悸。尽管诱发因素不同，但两例均显示出应激性心肌病的典型影像学表现，包括左心室心尖部气球样变和射血分数降低。两名患者均被诊断为DM1，且他们的心脏功能在数周内完全恢复。本病例系列强调了认识到应激性心肌病是DM1患者潜在心脏并发症的重要性。DM1与应激性心肌病之间共享的神经肌肉和心脏病理生理学值得进一步研究，以阐明潜在机制并指导管理策略。
