title: Left ventricular hypertrabeculation/noncompaction as a cardiac manifestation of Duchenne muscular dystrophy under non-invasive positive-pressure ventilation.
abstract: Though cardiac involvement is a frequent finding in patients with Duchenne muscular dystrophy (DMD) at the wheel-chair-bound stage, left ventricular hypertrabeculation (LVHT) has not been reported. The patient is a 28-year-old male with the typical clinical features of end stage DMD. Since the age of 16 years he required ventilatory support by means of non-invasive positive-pressure ventilation (NIPPV), initially intermittently and since age 27 permanently. Since the age of 21 years he developed chronic heart failure, and since age 24 atrial flutter, successfully treated with amiodarone. After discontinuation of amiodarone because of hyperthyroidism, he developed atrial fibrillation. Echocardiography at age 28 revealed mitral insufficiency, enlarged left atrial diameter, and, surprisingly, LVHT. Since LVHT was absent at the initial echocardiographic examination, it was regarded acquired. The case shows that cardiac involvement in DMD may not only comprise rhythm abnormalities, valve abnormalities, and dilative cardiomyopathy, but also LVHT in single cases.
authors.affiliation: Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Ellen
authors.initials: E
authors.lastname: Gelpi
authors.forename: Claudia
authors.initials: C
authors.lastname: Stöllberger
mesh_terms: D000328:Adult; D001281:Atrial Fibrillation / Q000209:etiology*; D001282:Atrial Flutter / Q000188:drug therapy / Q000209:etiology; D001706:Biopsy; D009202:Cardiomyopathies / Q000209:etiology*; D004452:Echocardiography; D006333:Heart Failure / Q000188:drug therapy / Q000209:etiology; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007385:Intermittent Positive-Pressure Ventilation; D008297:Male; D008854:Microscopy, Electron; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000473:pathology