title: Familal left ventricular hypertrabeculation (noncompaction) is myopathic.
abstract: BACKGROUND
  Left-ventricular hypertrabeculation/noncompaction(LVHT) is a cardiac abnormality of unknown aetiology, frequently associated with arrhythmias, heart failure, and embolism. In most cases LVHT is associated with neuromuscular disorders (NMDs) or other rare non-neuromuscular genetic syndromes. Occasionally, LVHT occurs familiarly.
  
  
  RESULTS
  Invited for a cardiologic investigation were all first-degree relatives of index patients with LVHT who attended the cardiologic department. Altogether 25 relatives of 15 index patients from 15 families were investigated. Three members each were investigated in 3 families, 2 patients each in 4 families and 1 member each in 8 families. Among the 25 relatives from the 15 families, LVHT was found in 4 of them. Accordingly, familial LVHT was detected in 4 of the 15 investigated families (27%). Among the 4 relatives with LVHT, extension and morphology were similar to the appropriate index patient in 2 families. A NMD was diagnosed in three of the four relatives (75%) with familial LVHT. One relative without LVHT presented with a history of Fallot's tetralogy, and two relatives each presented with thickening of the left-ventricular myocardium.
  
  
  CONCLUSIONS
  LVHT is familial in at least 27% of the patients with LVHT. LVHT may differ between relatives in some of the patients with familial LVHT. Familial LVHT is associated with a NMD in the majority of the cases. Relatives of LVHT patients may present with cardiac abnormalities other than LVHT.
authors.affiliation: Krankenanstalt Rudolfstiftung, Vienna, Danube University Krems, Austria. fifigs1@yahoo.de
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Claudia
authors.initials: C
authors.lastname: Stöllberger
authors.forename: Gerhardt
authors.initials: G
authors.lastname: Blazek
authors.forename: Ernst
authors.initials: E
authors.lastname: Sehnal
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D005190:Family; D005192:Family Health; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D009468:Neuromuscular Diseases / Q000453:epidemiology* / Q000235:genetics; D014463:Ultrasonography