title: Heterozygous promotor haplotype LXA/LYB in MBL-deficiency associated with myopathy and left ventricular hypertrabeculation/noncompaction.
abstract: OBJECTIVE
  To report the genetic background of mannose-binding lectin (MBL)-deficiency in a patient with recurrent infections, cardiac disease, and myopathy.
  
  
  METHODS
  Case report.
  
  
  RESULTS
  In a 47-year-old male with recurrent respiratory infections, MBL-deficiency was diagnosed. He additionally had developed left bundle-branch-block, ventricular runs, and dilative cardiomyopathy. Left ventricular (LV)-hypertrabeculation and intra-myocardial calcifications were detected earlier. At age 44 years, unclassified myopathy, manifesting as easy fatigability, myalgias, and ptosis was diagnosed. After death from a sepsis with Staphylococcus aureus, autopsy revealed endocardial fibrosis and calcification, located over the compacted as well as non-compacted segments. The patient carried the heterozygous haplotype LXA/LYB in the MBL gene. MBL-deficiency was considered responsible for recurrent pulmonary infections and sepsis. The association between MBL-deficiency, LV-hypertrabeculation, endocardial fibrosis, and calcification remains speculative.
  
  
  CONCLUSIONS
  MBL-deficiency due to the LXA/LYB genotype may be associated with recurrent pulmonary infections and fatal sepsis. Endocardial fibrosis and calcification results rather from LV-hypertrabeculation than MBL-deficiency.
authors.affiliation: Krankenanstalt Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de
authors.forename: J
authors.initials: J
authors.lastname: Finsterer
authors.forename: C
authors.initials: C
authors.lastname: Stöllberger
authors.forename: H M
authors.initials: HM
authors.lastname: Wolf
mesh_terms: D002114:Calcinosis / Q000150:complications; D006579:Heterozygote; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D008297:Male; D037601:Mannose-Binding Lectin / Q000172:deficiency* / Q000235:genetics*; D008875:Middle Aged; D009135:Muscular Diseases / Q000150:complications*; D018487:Ventricular Dysfunction, Left / Q000150:complications*
chemical_list: D037601:Mannose-Binding Lectin