title: Dilated cardiomyopathy with cardiogenic shock in a child with Kearns-Sayre syndrome.
abstract: Kearns-Sayre syndrome (KSS) is a mitochondrial myopathy resulting from mitochondrial DNA deletion. This syndrome primarily involves the central nervous system, eyes, skeletal muscles and the heart. The most well-known cardiac complications involve the conduction system; however, there have been case reports describing cardiomyopathy. We describe a case of a child with KSS who presented with decompensated cardiac failure from dilated cardiomyopathy representing cardiomyocyte involvement of KSS. Our patient had a rapidly progressing course, despite maximal medical management, requiring emergent institution of extracorporeal membrane oxygenation and transition to a ventricular assist device. To the best of our knowledge, this is the youngest patient in the literature to have dilated cardiomyopathy in KSS.
authors.affiliation: Department of Pediatric Cardiology, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan, USA.
authors.forename: Swati
authors.initials: S
authors.lastname: Sehgal
authors.affiliation: Children's Hospital of Michigan, Detroit Medical Center and Washington University School of Medicine, St Louis, Missouri.
authors.forename: Swati
authors.initials: S
authors.lastname: Choudhry
authors.affiliation: Department of Pathology, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan.
authors.forename: Larisa
authors.initials: L
authors.lastname: Debelenko
authors.affiliation: Department of Pediatric Cardiology, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan, USA.
authors.forename: Thomas
authors.initials: T
authors.lastname: L'Ecuyer
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology / Q000628:therapy; D002648:Child; D004452:Echocardiography; D004562:Electrocardiography; D015199:Extracorporeal Membrane Oxygenation; D006333:Heart Failure / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology / Q000628:therapy; D006353:Heart-Assist Devices; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications* / Q000628:therapy; D009206:Myocardium / Q000473:pathology*; D011654:Pulmonary Edema / Q000209:etiology / Q000628:therapy