Successful cardiac transplantation in a patient with congenital generalized lipodystrophy

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.

[1]  F. Casanueva,et al.  Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience , 2014, Endocrine.

[2]  J. Korewicki,et al.  LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies , 2013, BMC Medical Genetics.

[3]  Vandana Sachdev,et al.  Cardiomyopathy in Congenital and Acquired Generalized Lipodystrophy: A Clinical Assessment , 2010, Medicine.

[4]  Y. Crow,et al.  Atypical progeroid syndrome due to heterozygous missense LMNA mutations. , 2009, The Journal of clinical endocrinology and metabolism.

[5]  D. Bernstein,et al.  Prevention of pediatric graft coronary artery disease: Atorvastatin , 2008, Pediatric transplantation.

[6]  B. Rutt,et al.  Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism Published, JLR Papers in Press, March 20, 2007. , 2007, Journal of Lipid Research.

[7]  F. Tesson,et al.  Lamin A/C and cardiac diseases , 2006, Current opinion in cardiology.

[8]  A. Garg,et al.  Laminopathies: multisystem dystrophy syndromes. , 2006, Molecular genetics and metabolism.

[9]  A. Kirk,et al.  Successful Renal Transplantation in a Patient with Congenital Generalized Lipodystrophy: A Case Report , 2004, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

[10]  M. Reitman,et al.  Leptin-replacement therapy for lipodystrophy. , 2002, The New England journal of medicine.

[11]  C. Kjellstrand,et al.  RENAL TRANSPLANTATION IN A PATIENT WITH LIPOATROPHIC DIABETES A CASE REPORT , 1978, Transplantation.

[12]  W. Khalife,et al.  Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. , 2008, Texas Heart Institute journal.