title: Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction.
abstract: BACKGROUND
  Left ventricular hypertrabeculation (LVHT)/non-compaction, a rare myocardial abnormality and frequently associated with neuromuscular disorders, has not been reported in primary myoadenylate-deaminase (MAD) deficiency (MADD).
  
  
  METHODS
  In a 53-year-old man with easy fatigability and myalgia since boyhood, primary MADD was diagnosed based upon slightly, but recurrently elevated creatine-kinase, absent staining for MAD on muscle biopsy, markedly reduced MAD activity in the muscle homogenate, and the C34T mutation within exon 2 of the AMPD1 gene. An ambulatory ECG showed nocturnal sinus bradycardia and echocardiography thickening of the interventricular septum (20 mm) and the posterior wall (16 mm) and additionally LVHT. Cardiac MRI confirmed myocardial thickening and LVHT. Myocardial thickening and LVHT were regarded as causally related to the C34T mutation.
  
  
  CONCLUSIONS
  Cardiac involvement in MADD may manifest as left ventricular myocardial thickening and LVHT. MADD should be included in the list of neuromuscular disorders which are associated with LVHT.
authors.affiliation: Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Benedikt
authors.initials: B
authors.lastname: Schoser
authors.forename: Claudia
authors.initials: C
authors.lastname: Stöllberger
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D001706:Biopsy; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000201:enzymology / Q000473:pathology; D009468:Neuromuscular Diseases / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D011859:Radiography
chemical_list: D000659:AMP Deaminase