title: Cardiac transplant in a family pedigree of hypertrophic cardiomyopathy secondary to a mutation in the AMP gene.
abstract: The phenotype of this unique condition comprises left ventricular hypertrophy (LVH), accessory pathways, atrial arrhythmia and premature failure of the atrioventricular node. At age 11, his ECG showed marked voltage criteria for LVH but his echocardiography was negative. He declined further screening but was reassessed at 21 years of age. By this time he had developed significant LVH. He had an implantable cardioventer defibrillator (ICD) in 2001. He developed atrial flutter and fibrillation which was initially treated with medical therapy and then radiofrequency ablation.Unfortunately, his condition deteriorated. He was New York Heart Association (NYHA) class 3-4 for most of 2011 and spent the latter part of the year and most of 2012 as an in-patient. An attempt to upgrade his ICD to a cardiac resynchronisation therapy-defibrillator was unsuccessful.In March 2012 he was placed on the transplant waiting list. He received an organ in June. He is now NHYA class 1 and has returned to work part-time.
authors.affiliation: Department of Medicine, Our Ladys Hospital, Co Meath, Ireland. rebeccaschofield@doctors.org.uk
authors.forename: Rebecca Sally
authors.initials: RS
authors.lastname: Schofield
authors.forename: Katherine
authors.initials: K
authors.lastname: McGarry
authors.forename: Claire Louise
authors.initials: CL
authors.lastname: Murphy
authors.forename: Kevin
authors.initials: K
authors.lastname: O'Hare
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000235:genetics; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D018450:Disease Progression; D016027:Heart Transplantation; D006801:Humans; D008297:Male; D010375:Pedigree; D055815:Young Adult
chemical_list: C526223:PRKAG2 protein, human; D055372:AMP-Activated Protein Kinases