Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy

Objectives: 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. Case report: 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. (C) 2007 Elsevier Inc. All rights reserved.