Hypoplastic Left Heart Syndrome. It Is All in the Genes**Editorials published in the Journal of the American College of Cardiology reflect the views of the authors and do not necessarily represent the views of JACC or the American College of Cardiology.

Journal of the American College of Cardiology

Volumn 50, Issue 16, 2007, Pages 1596-1597

  Grossfeld, Paul D ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 43; NOTCH1 RECEPTOR; TRANSCRIPTION FACTOR NKX2.5;

AORTA VALVE DISEASE; CARDIOVASCULAR MALFORMATION; CONGENITAL HEART DISEASE; CORONARY ARTERY BLOOD FLOW; ECHOCARDIOGRAPHY; EDITORIAL; GENE MUTATION; GENETIC COUNSELING; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; HEART DEVELOPMENT; HEART HEMODYNAMICS; HEART MUSCLE CELL; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; MITRAL VALVE DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PULMONARY VALVE DISEASE; RECURRENCE RISK; TRICUSPID VALVE DISEASE;

GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; RECURRENCE; SIBLINGS;

EID: 34948904868     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacc.2007.06.045     Document Type: Editorial

References (18)

1. Gehrmann J., Krasemann T., Kehl H.G., and Vogt J. Chest. Hypoplastic left-heart syndrome: the first description of the pathophysiology in 1851; translation of a publication by Dr. Bardeleben from Giessen, Germany. Chest 120 (2001) 1368-1371
2. Lev M. Pathologic anatomy and interrelationship of hypoplasia of the aortic tract complexes. Lab Invest 1 (1952) 61-70
3. Noonan J.A., and Nadas A.S. The hypoplastic left heart syndrome; an analysis of 101 cases. Pediatr Clin North Am 5 (1958) 1029-1056
4. Grossfeld P.D. The genetics of hypoplastic left heart syndrome. Cardiol Young 9 (1999) 627-632
5. Loffredo C.A. Epidemiology of cardiovascular malformations: prevalence and risk factors. Am J Med Genet 97 (2000) 319-325
6. Lewin M.B., McBride K.L., Pignatelli R., et al. Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. Pediatrics 114 (2004) 691-696
7. Nora J.J. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation 38 (1968) 604-617
8. Hinton Jr. R.B., Martin L.J., Tabangin M.E., Mazwi M.L., Cripe L.H., and Benson D.W. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol 50 (2007) 1590-1595
9. Harh J.Y., Paul M.H., Gallen W.J., Friedberg D.Z., and Kaplan S. Experimental production of hypoplastic left heart syndrome in the chick embryo. Am J Cardiol 31 (1973) 51-56
10. DeAlmeida A., McQuinn T., and Sedmera D. Increased ventricular preload is compensated by myocyte proliferation in normal and hypoplastic fetal chick ventricle. Circ Res 100 (2007) 1246-1248
11. Makikallio K., McElhinney D.B., Levine J.C., et al. Fetal aortic valve stenosis and the evolution of hypoplastic left heart syndrome: patient selection for fetal intervention. Circulation 113 (2006) 1401-1405
12. Dasgupta C., Martinez A.M., Zuppan C.W., Shah M.M., Bailey L.L., and Fletcher W.H. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 479 (2001) 173-186
13. McElhinney D.B., Geiger E., Blinder J., Benson D.W., and Goldmuntz E. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42 (2003) 1650-1655
14. Elliott D.A., Kirk E.P., Yeoh T., et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 41 (2003) 2072-2076
15. Garg V., Muth A.N., Ransom J.F., et al. Mutations in NOTCH1 cause aortic valve disease. Nature 437 (2005) 270-274
16. Grossfeld P.D., Mattina T., Lai Z., et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A 129 (2004) 51-61
17. Cripe L., Andelfinger G., Martin L.J., Shooner K., and Benson D.W. Bicuspid aortic valve is heritable. J Am Coll Cardiol 44 (2004) 138-143
18. Martin L.J., Ramachandran V., Cripe L.H., et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet 121 (2007) 275-284