Cardiomyopathy in the Kearns-Sayre syndrome.
The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that a minority of cases (less than 20%) have cardiac involvement. This had previously been limited to abnormalities of cardiac conduction with progressive heart block. Myocardial biopsy has, however, shown ultrastructural evidence of a generalised mitochondrial disorder which hitherto has not been associated with a functional deficit.
Channer
K S
KS
Department of Cardiology, Bristol Royal Infirmary.
Channer
J L
JL
Campbell
M J
MJ
Rees
J R
JR
D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000209:etiology* / Q000473:pathology; D005133:Eye Movements; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications*; D008297:Male; D009206:Myocardium / Q000648:ultrastructure; D009886:Ophthalmoplegia / Q000150:complications*