Iranian Journal of Pediatrics

Published by: Kowsar

Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction

Claudia Stollberger 1 , * and Josef Finsterer 1
Authors Information
1 Rudolfstiftung Hospital, Vienna, Austria
Article information
  • Iranian Journal of Pediatrics: June 2016, 26 (3); e4258
  • Published Online: May 15, 2016
  • Article Type: Letter
  • Received: October 11, 2015
  • Revised: December 21, 2015
  • Accepted: December 30, 2015
  • DOI: 10.5812/ijp.4258

To Cite: Stollberger C, Finsterer J. Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction, Iran J Pediatr. 2016 ; 26(3):e4258. doi: 10.5812/ijp.4258.

Copyright © 2016, Growth & Development Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
References
  • 1. Mohammadpour Ahranjani B, Moradi P, Nazari S, Farshadfar S. A Nine-Year-Old Girl With Left Ventricle Non-Compaction and Skin Lesions (Carvajal Syndrome). Iran J Pediatr. 2015; 25(4)[DOI][PubMed]
  • 2. Nehme N, El Malti R, Roux-Buisson N, Caignault JR, Bouvagnet P. Evidence for genetic heterogeneity in Carvajal syndrome. Cell Tissue Res. 2012; 348(2): 261-4[DOI][PubMed]
  • 3. Boule S, Fressart V, Laux D, Mallet A, Simon F, de Groote P, et al. Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. Int J Cardiol. 2012; 161(1): 50-2[DOI][PubMed]
  • 4. Barber S, Day P, Judge M, Toole EO, Fayle S. Variant Carvajal syndrome with additional dental anomalies. Int J Paediatr Dent. 2012; 22(5): 390-6[DOI][PubMed]
  • 5. Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, et al. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol. 2010; 130(4): 968-78[DOI][PubMed]
  • 6. Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol. 2006; 126(7): 1651-4[DOI][PubMed]
  • 7. Drezner JA, Fudge J, Harmon KG, Berger S, Campbell RM, Vetter VL. Warning symptoms and family history in children and young adults with sudden cardiac arrest. J Am Board Fam Med. 2012; 25(4): 408-15[DOI][PubMed]
  • 8. Williams T, Machann W, Kuhler L, Hamm H, Muller-Hocker J, Zimmer M, et al. Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. Clin Res Cardiol. 2011; 100(12): 1087-93[DOI][PubMed]
  • 9. Stollberger C, Blazek G, Gessner M, Bichler K, Wegner C, Finsterer J. Age-dependency of cardiac and neuromuscular findings in adults with left ventricular hypertrabeculation/noncompaction. Am J Cardiol. 2015; 115(9): 1287-92[DOI][PubMed]
  • 10. Bharucha T, Lee KJ, Daubeney PE, Nugent AW, Turner C, Sholler GF, et al. Sudden death in childhood cardiomyopathy: results from a long-term national population-based study. J Am Coll Cardiol. 2015; 65(21): 2302-10[DOI][PubMed]
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