Heterozygous promotor haplotype LXA/LYB in MBL-deficiency associated with myopathy and left ventricular hypertrabeculation/noncompaction

Abstract

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.

Cause and Management of Calcified Left Ventricular Hyper trabeculation / Noncompaction

“…. The cause of the calcifications may not only be infectious, autoimmune, or hypoxic but could be also degenerative or due to MBL-deficiency[9]. Calcification of the basal ganglia have been found in patients with LVHT[7].…”