Progressive familial heart block type I. Clinical and pathological observations.
Progressive familial heart block type I (PFHB-I) is an autosomal inherited disease. It was previously postulated that the disease is limited to the cardiac conduction tissue. The presentation of a patient with dilated cardiomyopathy focused on the possibility that this might be part of PFHB-I. This observation led to routine echocardiographic examination of patients with complete heart block, who belonged to PFHB-I families, and another 5 cases with signs of dilated cardiomyopathy were identified. This is the first time, to our knowledge, that the histological picture of PFHB-I has been described. From these case reports it is clear that in the presence of a dilated cardiomyopathy the prognosis in PFHB-I tends to be poor.
van der Merwe
P L
PL
Department of Paediatrics, University of Stellenbosch, Parowvallei, CP.
Rose
A G
AG
van der Walt
J J
JJ
Weymar
H W
HW
Hunter
J C
JC
Weich
H F
HF
D000328:Adult; D002036:Bundle of His / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000150:complications*; D004562:Electrocardiography; D005260:Female; D006327:Heart Block / Q000150:complications / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009206:Myocardium / Q000473:pathology