Abstract
Aim
To report the genetic background of mannose-binding lectin (MBL)-deficiency in a patient with recurrent infections, cardiac disease, and myopathy.
Method
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.
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Finsterer, J., Stöllberger, C. & Wolf, H.M. Heterozygous promotor haplotype LXA/LYB in MBL-deficiency associated with myopathy and left ventricular hypertrabeculation/noncompaction. Ir J Med Sci 180, 909–911 (2011). https://doi.org/10.1007/s11845-009-0309-5
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DOI: https://doi.org/10.1007/s11845-009-0309-5