title: Cardiac involvement in facioscapulohumeral muscular dystrophy.
abstract: Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal. Blood pressure was 150/90 mm Hg. Funduscopy, 24-hour ambulatory ECG, and 24-hour blood pressure monitoring were normal. ECG showed incomplete right bundle branch block, ST elevation in V2-V4, tall T waves in V3-V5, and hypertrophy signs. Echocardiography revealed left ventricular myocardial thickening of the posterior wall (11.7 mm) and the septum (15.5 mm). In conclusion, CI in genetically confirmed FSHMD may manifest not only as ECG abnormalities but also as left ventricular myocardial thickening.
authors.affiliation: Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Claudia
authors.initials: C
authors.lastname: Stöllberger
authors.forename: Gerhard
authors.initials: G
authors.lastname: Meng
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000209:etiology*; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D006352:Heart Ventricles; D006801:Humans; D008297:Male; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications*