title: Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy.
abstract: OBJECTIVE
  The aim of this study was to report the histological findings of a patient with left ventricular hypertrabeculation (LVHT, noncompaction), mannose-binding lectin (MBL) deficiency, and unclassified myopathy in whom also endocardial thickening and calcifications over the compacted and noncompacted layer were found.
  
  
  METHODS
  In a 47-year-old man with left bundle-branch block, ventricular runs, and dilative cardiomyopathy with systolic dysfunction since childhood, LVHT was detected at 40 years of age. At the same time, intracardial calcifications were recognized on a thoracic computed tomographic scan. MBL deficiency was identified as the cause of recurrent respiratory infections since childhood at 45 years of age. Easy fatigability, myalgias, ptosis, and warming-up phenomenon were attributed to an unclassified myopathy at 44 years of age. After death from a sepsis with Staphylococcus aureus, autopsy confirmed LVHT and additionally revealed endocardial thickening, endocardial fibrosis, foci of calcifications within the endocardium, and accumulations of degenerated cardiomyocytes within the calcifications. Endocardial fibrosis and calcifications were located over the compacted as well as noncompacted segments. They were attributed to LVHT rather than the MBL deficiency-triggered infections or the preterminal sepsis.
  
  
  CONCLUSIONS
  LVHT may be associated with MBL deficiency, unclassified myopathy, and endocardial fibrosis with calcifications over the compacted and noncompacted layer. Endocardial fibrosis with prominent calcifications seems to be a rare manifestation of LVHT.
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: Jutta
authors.initials: J
authors.lastname: Karner
authors.forename: Hans
authors.initials: H
authors.lastname: Keller
authors.forename: Hans
authors.initials: H
authors.lastname: Feichtinger
mesh_terms: D002114:Calcinosis / Q000209:etiology* / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000473:pathology; D004719:Endomyocardial Fibrosis / Q000209:etiology* / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000172:deficiency*; D008875:Middle Aged; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology; D018487:Ventricular Dysfunction, Left / Q000150:complications* / Q000473:pathology
chemical_list: D037601:Mannose-Binding Lectin