Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion

Kearns-sayre Syndrome Treated with Permanent Pacemaker Insertion for Complete Atrioventricular Block

“…Most KSS patients have been diagnosed in Europe, the Middle East, and North America. [4][5][6][7] In Korea, one case involving the cardiac conduction system has been reported. That patient had a permanent pacemaker implanted, but the diagnosis was not confirmed by muscle biopsy.…”

Fatal Dilated Cardiomyopathy Associated with a Mitochondrial DNA Deletion

“…In disorders due to single large-scale mtDNA deletions, cardiac involvement is usually manifested as atrioventricular block, which often necessitates treatment with a pacemaker. Our patient presented with severe dilated cardiomyopathy, which appears to be infrequent in diseases due to large-scale mtDNA deletions with few reported cases [15, 16]. Our patient was listed for cardiac transplantation, but due to progressive deterioration he died 5 days after admittance.…”

Heart Transplantation for a Patient With Kearns-Sayre Syndrome and End-Stage Heart Failure

“…7 The literature contains only one case report of successful cardiac transplantation for treatment of KSS 8 and one case report of successful cardiac transplant in a patient with incomplete KSS. 9 Additionally, the literature contains a report of two successful transplants performed in patients with a different, but similar, mitochondrial myopathy syndrome characterized by mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms. 9 We managed immunosuppression in our patient no differently than our standard regimen.…”

“…9 Additionally, the literature contains a report of two successful transplants performed in patients with a different, but similar, mitochondrial myopathy syndrome characterized by mitochondrial encephalopathy, lactic acidosis, and stroke-like symptoms. 9 We managed immunosuppression in our patient no differently than our standard regimen. Interestingly, some literature demonstrates a potential beneficial side effect of immunosuppression in a patient with a mitochondrial encephalomyopathy: Research has shown that cells that contain mtDNA mutations are sensitive to oxidative stress and calcineurin inhibitors may convey a protective effect from oxidative damage in brain cells.…”