A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.

BACKGROUND: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum. CASE PRESENTATION: Here, we present a boy with KSS whose symptoms included cardiac conduction deficit, cardiomyopathy and growth hormone (GH) deficiency. The patient showed typical symptoms for KSS from early childhood (chronic progressive external ophthalmoplegia, retinopathy, short stature). Long-range PCR analysis disclosed a 7663-base pair heteroplasmic deletion in the mtDNA encompassing nucleotides 6340-14003. At 12 years of age, GH deficiency was recognized and recombinant growth hormone (rGH) therapy was started. At 15 years of age, a complete atrioventicular block was diagnosed and the patient received a pacemaker. During the following 6 months, progressive deterioration of the left ventricle was observed and an echocardiogram showed features of dilated cardiomyopathy. The rGH treatment was then discontinued at a final height of 163 cm. Unfortunately, due to multi-organ insufficiency and inflammation, the patient died at the age of 18 years. CONCLUSIONS: The response to rGH therapy in the patient was very satisfactory. The large mtDNA deletion had no apparent impact on the response to rGH. Cardiac disturbances occurred as part of the syndrome and were not related to rGH therapy; however, the progression of the disease led to death.

[Hybrid treatment of interrupted aortic arch in a newborn with contraindications for extracorporeal circulation: case report including 1.5 year follow-up]. / Leczenie hybrydowe noworodka z przerwanym lukiem aorty i przeciwwskazaniami do krazenia pozaustrojowego: opis przypadku z uwzglednieniem 1,5-rocznej obserwacji.

Despite marked improvement in the cardiosurgery, total repair of interrupted aortic arch with coexisting risk factors in neonatal or early infancy is associated with high mortality. We present a patient treated by an alternative hybrid procedure without exposing the critical ill neonate to the risk of cardiopulmonary bypass. At the 1.5 year of life a successful arch reconstruction, repair of associated anomalies and de-banding of pulmonary arteries with a stent cut out was done.