title: Successful cardiac transplantation in a patient with congenital generalized lipodystrophy.
abstract: We report a case of a 12-yr-old boy referred to our unit with congenital generalized lipodystrophy and dilated cardiomyopathy related to a lamin gene mutation. He progressively developed end-stage heart failure and was referred for heart transplant evaluation. The patient's lipid profile, glucose level, and renal function were normal, and vascular retinopathy was ruled out. He underwent orthotopic bicaval HT and had an uneventful recovery. He was discharged home two wk after surgery with good graft function. During follow-up, he developed hyperglycemia and dyslipidemia, which were controlled by increasing leptin dose and starting oral antidiabetic drugs. The patient is currently doing well two yr after transplantation.
authors.affiliation: Congenital Heart Diseases and Pediatric Cardiology Unit, Pediatric Department, Hospital Materno Infantil, Complejo Hospitalario Universitario A Coruña, A Coruna, Spain.
authors.forename: Sonia
authors.initials: S
authors.lastname: Marcos-Alonso
authors.affiliation: Congenital Heart Diseases and Pediatric Cardiology Unit, Cardiac Surgery Department, Complejo Hospitalario Universitario A Coruña, A Coruna, Spain.
authors.forename: Víctor
authors.initials: V
authors.lastname: Bautista-Hernandez
authors.affiliation: Congenital Heart Diseases and Pediatric Cardiology Unit, Cardiac Surgery Department, Complejo Hospitalario Universitario A Coruña, A Coruna, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Portela Torrón
mesh_terms: D000284:Administration, Oral; D000792:Angiography; D001786:Blood Glucose / Q000032:analysis; D015992:Body Mass Index; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000601:surgery*; D002648:Child; D003251:Constriction, Pathologic; D050171:Dyslipidemias / Q000150:complications; D006333:Heart Failure / Q000601:surgery; D016027:Heart Transplantation; D006801:Humans; D006943:Hyperglycemia / Q000150:complications; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007677:Kidney Function Tests; D034904:Lamin Type A / Q000235:genetics; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000601:surgery*; D008297:Male; D009154:Mutation; D016896:Treatment Outcome
chemical_list: D001786:Blood Glucose; D007004:Hypoglycemic Agents; D034904:Lamin Type A
keywords: cardiomyopathy; lipodystrophy; pediatric heart transplant