Anindita Chanda, Damla C. Gonullu-Rotman, Mohammed Elsadany, Stephanie Saucier, Irina Sobol, Shudhanshu Alishetti, Ningxin Wan, Sean R. McMahon, Omar A. Abdul-Rahman
{"title":"强直性肌营养不良和应激性心肌病:一个病例系列。","authors":"Anindita Chanda, Damla C. Gonullu-Rotman, Mohammed Elsadany, Stephanie Saucier, Irina Sobol, Shudhanshu Alishetti, Ningxin Wan, Sean R. McMahon, Omar A. Abdul-Rahman","doi":"10.1002/ajmg.a.64027","DOIUrl":null,"url":null,"abstract":"<div>\n \n <p>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.</p>\n </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"197 6","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Myotonic Dystrophy and Stress Induced Cardiomyopathy: A Case Series\",\"authors\":\"Anindita Chanda, Damla C. Gonullu-Rotman, Mohammed Elsadany, Stephanie Saucier, Irina Sobol, Shudhanshu Alishetti, Ningxin Wan, Sean R. McMahon, Omar A. Abdul-Rahman\",\"doi\":\"10.1002/ajmg.a.64027\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n <p>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.</p>\\n </div>\",\"PeriodicalId\":7507,\"journal\":{\"name\":\"American Journal of Medical Genetics Part A\",\"volume\":\"197 6\",\"pages\":\"\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2025-02-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics Part A\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64027\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part A","FirstCategoryId":"99","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.64027","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Myotonic Dystrophy and Stress Induced Cardiomyopathy: A Case Series
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.
期刊介绍:
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .