PMID- 23997074
OWN - NLM
STAT- MEDLINE
DCOM- 20140411
LR  - 20211021
IS  - 1757-790X (Electronic)
IS  - 1757-790X (Linking)
VI  - 2013
DP  - 2013 Aug 30
TI  - Cardiac transplant in a family pedigree of hypertrophic cardiomyopathy secondary 
      to a mutation in the AMP gene.
LID - 10.1136/bcr-2013-009929 [doi]
LID - bcr2013009929
AB  - 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.
FAU - Schofield, Rebecca Sally
AU  - Schofield RS
AD  - Department of Medicine, Our Ladys Hospital, Co Meath, Ireland. 
      rebeccaschofield@doctors.org.uk
FAU - McGarry, Katherine
AU  - McGarry K
FAU - Murphy, Claire Louise
AU  - Murphy CL
FAU - O'Hare, Kevin
AU  - O'Hare K
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20130830
PL  - England
TA  - BMJ Case Rep
JT  - BMJ case reports
JID - 101526291
RN  - EC 2.7.11.1 (PRKAG2 protein, human)
RN  - EC 2.7.11.31 (AMP-Activated Protein Kinases)
SB  - IM
MH  - AMP-Activated Protein Kinases/genetics
MH  - Cardiomyopathy, Hypertrophic, Familial/*diagnosis/genetics/therapy
MH  - Disease Progression
MH  - *Heart Transplantation
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Young Adult
PMC - PMC3762149
EDAT- 2013/09/03 06:00
MHDA- 2014/04/12 06:00
PMCR- 2015/08/30
CRDT- 2013/09/03 06:00
PHST- 2013/09/03 06:00 [entrez]
PHST- 2013/09/03 06:00 [pubmed]
PHST- 2014/04/12 06:00 [medline]
PHST- 2015/08/30 00:00 [pmc-release]
AID - bcr-2013-009929 [pii]
AID - 10.1136/bcr-2013-009929 [doi]
PST - epublish
SO  - BMJ Case Rep. 2013 Aug 30;2013:bcr2013009929. doi: 10.1136/bcr-2013-009929.