Abstract 14154: Myotonic Dystrophy and Stress Induced Cardiomyopathy

Abstract

Myotonic dystrophy type 1 (MD1) is an autosomal dominant neuromuscular disease that can affect skeletal, smooth, and cardiac muscle. Patients often have cardiac involvement such as conduction diseases, ventricular arrhythmia, sudden cardiac death, cardiomyopathy and pulmonary hypertension. We describe a patient with MD1 who suffered recurrent takotsubo cardiomyopathy. Case: A 39-year-old female with history of myotonic dystrophy type 1, takotsubo cardiomyopathy with recovered ejection fraction (EF) 50-55%, gastroparesis and orthostatic hypotension presented with chest pain, nausea, vomiting, dyspnea, and diaphoresis. Initially she was hypotensive and tachycardic. The initial physical exam revealed intact mentation, cachexia, 4/5 muscle strength in all four extremities, lack of JVD, warm and well-perfused extremities without edema. Notable lab findings included a lactic acid of 2.3 mmol/L, high sensitivity troponin of 5000 ng/L and proBNP of 1520 pg/mL. Her initial ECG revealed first degree AV block, left anterior fascicular block, ST elevations in leads V 2 -V 3 and T wave inversions in lateral leads. She was admitted for further evaluation. A transthoracic echocardiogram (TTE) showed an EF of 20-25% with apical akinesis and ballooning, with a small apical mural thrombus. She was started on a heparin drip and ischemic work up was deferred given her normal coronary arteries three years prior. Serial TTEs showed improvement of her EF to 54% within two weeks. She was managed with gentle diuresis but she was unable to tolerate guideline directed medical therapy (GDMT) due to symptomatic hypotension. Improvement in her symptoms was noted with the EF recovery. Discussion: There is currently no known association between takotsubo cardiomyopathy and myotonic dystrophy type 1. To our knowledge there is one case in the literature that reported a recurrent takotsubo cardiomyopathy in MD1 patient, and this case is the second. These two cases highlight the possibility that MD1 patients may be at risk of recurrent takotsubo cardiomyopathy. We believe that additional research is needed to investigate a possible causative relationship between the two disease entities.