Deficiency of mannose-binding lectin, myopathy, calcified endomyocardial fibrosis, and left ventricular noncompaction.
In a patient with mannose-binding lectin deficiency and metabolic myopathy with recurrent respiratory infections, left ventricular hypertrabeculation/noncompaction was diagnosed by echocardiography and confirmed at autopsy. In contrast with previously described cases, extensive endocardial calcifications were found, possibly as a result of recurrent endomyocarditis during the recurrent infections.
Karner
Jutta
J
Second Medical Department, Krankenanstalt Rudolfstiftung, Osterreich, Austria.
Keller
Hans
H
Stöllberger
Claudia
C
Feichtinger
Hans
H
Finsterer
Josef
J
D001344:Autopsy; D002114:Calcinosis / Q000150:complications / Q000473:pathology*; D002908:Chronic Disease; D018450:Disease Progression; D004719:Endomyocardial Fibrosis / Q000150:complications / 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*; D011014:Pneumonia / Q000209:etiology / Q000503:physiopathology; D012008:Recurrence; D012131:Respiratory Insufficiency / Q000209:etiology / Q000503:physiopathology; D012720:Severity of Illness Index; D018487:Ventricular Dysfunction, Left / Q000150:complications / Q000175:diagnosis*
D037601:Mannose-Binding Lectin