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Left ventricular noncompaction associated with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome
1Divisions of Pediatric Cardiology and Cardiology, Argentina
Divisions of Pediatric Cardiology and Cardiology,Argentina
Children's Hospital, Cordoba, Argentina
Private Hospital, Cordoba, Argentina
Children's Hospital, Cordoba, Argentina
- 1 1Divisions of Pediatric Cardiology and Cardiology, Argentina
- 2 Divisions of Pediatric Cardiology and Cardiology,Argentina
- 3 Children's Hospital, Cordoba, Argentina
- 4 Private Hospital, Cordoba, Argentina
- 5 Children's Hospital, Cordoba, Argentina
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Abstract
We report a 35-year-old female patient with hypertrophic cardiomyopathy, left ventricular noncompaction, and Wolff-Parkinson-White EKG pattern. Several other family members present the same clinical condition. We speculate that this phenotype is related to the genotypes PRKAG2 and LAMP2 represented by mutations of the genes encoding AMP-activated protein kinase (PRKAG2) and lysosome associated membrane protein 2 (LAMP2).
KeywordsLeft Ventricular NoncompactionHypertrophic CardiomyopathyWolff-Parkinson-White Syndrome
- Van Praagh, R., Personal communication.
- Pignatelli, R.H., McMahon, C.J., Dreyer, W.J., et al. (2003) Clinical characterization of left ventricular non-compaction in children: a relatively common form of cardiomyopathy. Circulation, 108, 2672-2678.
- Ichida, F., Tsubata, S., Bowles, K.R., et al. (2001) Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation, 103, 1256-1263.
- Monserrat, L., Hermida-Prieto, M., Fernandez, X., et al. (2007) Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. European Heart Journal, 28, 1953-1961.
- Klaassen, S., Probst, S., Oechslin, E., et al. (2008) Mutation in sarcomere protein genes in left ventricular non-compaction. Circulation, 117, 2893-2901.
- Pantazis, A.A., Kohll, S.K., and Elliott, P.M. (2006) Images in cardiology. Hypertrophic cardiomyopathy and left ventricular hypertrabeculation: evidence for an overlapping phenotype. Heart, 92, 349.
- Kelley-Hedgepeth, A., Towbin, J.A., and Maron, M.S. (2009) Images in cardiovascular medicine. Overlapping phenotypes. Left ventricular noncompaction and hyper-trophic cardiomyopathy. Circulation, 119, 588-589.
- Murphy, R.T., Mogensen, J., McGarry, K., et al. (2005) Adenosine monophosphate-activated protein kinase dis-ease mimicks hypertrophic cardiomyopathy and Wolff- Parkinson-White syndrome. Natural history. Journal of the American College of Cardiology, 45, 922-930.
- Yang, Z., McMahon, C.J., and Smith, L.R. (2005) Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation, 112, 1612-1617.