The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans

International Journal of Cardiology

Volumn 145, Issue 2, 2010, Pages 405-407

  Ripoll Vera, Tomás ^a   Monserrat Iglesias, Lorenzo ^b   Hermida Prieto, Manuel ^b   Ortiz, Martin ^b   Rodriguez Garcia, Isabel ^b   Govea Callizo, Nancy ^c   Gómez Navarro, Carlos ^d   Rosell Andreo, Jordi ^c   Gámez Martínez, José María ^a   Pons Lladó, Guillermo ^e   Cremer Luengos, David ^a   Torres Marqués, Joan ^a  

^a HOSPITAL SON LLÀTZER   (Spain)

^b Instituto de Investigación Biomédica de A Coruña   (Spain)

^c HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^d Hospital de Torrecardenas   (Spain)

^e Clinica Palmaplanas   (Spain)

Author keywords

Cardiomyopathy; Genetics; Hypertrophy; Non compaction; Sudden death

Indexed keywords

ATENOLOL;

ADULT; ANGIOCARDIOGRAPHY; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD PRESSURE VARIABILITY; CASE REPORT; CAT; CONTRAST ENHANCEMENT; DISEASE ASSOCIATION; DYSPNEA; ELECTROCARDIOGRAM; EXERCISE TEST; FAMILY HISTORY; FEMALE; FUNCTIONAL STATUS; GENE; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEART ARREST; HEART ATRIUM FIBRILLATION; HEART DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE NONCOMAPACTION; HEART MUSCLE ISCHEMIA; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LETTER; MISSENSE MUTATION; MYBPC3 GENE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SUDDEN DEATH; SYSTOLIC DYSFUNCTION; THORAX PAIN;

EID: 78649958228     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2010.04.032     Document Type: Article

References (7)

1. K.R. Bowles, and N.E. Bowles Genetics of inherited cardiomyopathies Expert Rev Cardiovasc Ther 2 2004 683 697
2. G. Frisso, G. Limongelli, and G. Pacileo A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy Clin Genet 76 2009 91 101
3. P. Richard, P. Charron, and L. Carrier Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy Circulation 107 2003 2227 2232
4. K. Zahka, K. Kalidas, and M.A. Simpson Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency amongst the Amish Heart 94 2008 1326 1330
5. K. Meurs, M. Norgard, M. Ederer, K. Hendrix, and M. Kittleson A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy Genomics 90 2007 261 264
6. T. Konno, M. Shimizu, and H. Ino A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients J Am Coll Cardiol 41 2003 781 786
7. A.J. Coats Ethical authorship and publishing Int J Cardiol 131 2009 149 150