{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:50:03Z","timestamp":1753861803782,"version":"3.41.2"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T00:00:00Z","timestamp":1740441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats: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\u2010induced 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\u2010induced 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\u2010year\u2010old woman, developed chest pain following intractable nausea and vomiting, while the second patient, a 62\u2010year\u2010old woman, experienced palpitations after the emotional stress of her 28\u2010year\u2010old 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.<\/jats:p>","DOI":"10.1002\/ajmg.a.64027","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T13:16:02Z","timestamp":1741698962000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Myotonic Dystrophy and Stress Induced Cardiomyopathy: A Case Series"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8543-7978","authenticated-orcid":false,"given":"Anindita","family":"Chanda","sequence":"first","affiliation":[{"name":"Department of Internal Medicine University of Connecticut School of Medicine  Farmington Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damla C.","family":"Gonullu\u2010Rotman","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Weill Cornell Medicine  New York New York USA"},{"name":"Division of Medical Genetics, Department of Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Elsadany","sequence":"additional","affiliation":[{"name":"Department of Cardiology Hartford Healthcare  Hartford Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Saucier","sequence":"additional","affiliation":[{"name":"Department of Cardiology Hartford Healthcare  Hartford Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Sobol","sequence":"additional","affiliation":[{"name":"Department of Advanced Heart Failure and Transplant Cardiology Weill Cornell Medicine  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shudhanshu","family":"Alishetti","sequence":"additional","affiliation":[{"name":"Department of Advanced Heart Failure and Transplant Cardiology New York Presbyterian\u2010Brooklyn Methodist Hospital, Weill Cornell Medicine  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ningxin","family":"Wan","sequence":"additional","affiliation":[{"name":"Department of Advanced Heart Failure and Transplant Cardiology New York Presbyterian\u2010Brooklyn Methodist Hospital, Weill Cornell Medicine  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean R.","family":"McMahon","sequence":"additional","affiliation":[{"name":"Department of Cardiology Hartford Healthcare  Hartford Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omar A.","family":"Abdul\u2010Rahman","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Weill Cornell Medicine  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482941.2014.944538"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2015.03.069"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222111874"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.31083\/j.rcm2304126"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40981\u2010020\u201000388\u20107"},{"volume-title":"Thompson & Thompson Genetics in Medicine","year":"2015","author":"Nussbaum R. L.","key":"e_1_2_8_7_1"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000215985.18538.c4"},{"issue":"1","key":"e_1_2_8_9_1","first-page":"27","article-title":"Pathohistological Changes in Endomyocardial Biopsy Specimens in Patients With Myotonic Dystrophy","volume":"41","author":"Rakocevi\u0107\u2010Stojanovi\u0107 V.","year":"1999","journal-title":"Panminerva Medica"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64027","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T08:42:45Z","timestamp":1746434565000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,25]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/ajmg.a.64027"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64027","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2025,2,25]]},"assertion":[{"value":"2024-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64027"}}