Heredity of bicuspid aortic valve: Is family screening indicated?

Heart

Volumn 97, Issue 15, 2011, Pages 1193-1195

  McBride, Kim L ^a,b   Garg, Vidu ^a,b  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH1 RECEPTOR;

BICUSPID AORTIC VALVE; EDITORIAL; FAMILY ASSESSMENT; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETICS; HEREDITY; HUMAN; NONHUMAN; PRIORITY JOURNAL; THORACIC AORTA ANEURYSM;

FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MASS SCREENING; PEDIGREE; VENTRICULAR OUTFLOW OBSTRUCTION;

EID: 79960248723     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/hrt.2011.222489     Document Type: Editorial

References (25)

1. Ward C. Clinical significance of the bicuspid aortic valve. Heart 2000;83:81-5. (Pubitemid 30307645)
2. Roger VL, Go AS, Lloyd-Jones DM, et al. Heart disease and stroke statistics - 2011 update: a report from the American Heart Association. Circulation 2010;123:e18-209.
3. Otto CM. Calcification of bicuspid aortic valves. Heart 2002;88:321-2.
4. Tribouilloy C, Rusinaru D, Sorel C, et al. Clinical characteristics and outcome of infective endocarditis in adults with bicuspid aortic valves: a multicentre observational study. Heart 2010;96:1723-9.
5. Kutty S, Kaul S, Danford CJ, et al. Main pulmonary artery dilation in association with congenital bicuspid aortic valve in the absence of pulmonary valve abnormality. Heart 2010;96:1756-61.
6. Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol 2010;55:2789-800.
7. Markwald RR, Norris RA, Moreno-Rodriguez R, et al. Developmental basis of adult cardiovascular diseases: valvular heart diseases. Ann N Y Acad Sci 2010;1188:177-83.
8. Fernandes SM, Sanders SP, Khairy P, et al. Morphology of bicuspid aortic valve in children and adolescents. J Am Coll Cardiol 2004;44:1648-51. (Pubitemid 39369798)
9. Buchner S, Hulsmann M, Poschenrider F, et al. Variable phenotypes of bicuspid aortic valve disease: classification by cardiovascular magnetic resonance. Heart 2010;96:1233-40.
10. Huntington K, Hunter AG, Chan KL. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 1997;30:1809-12. (Pubitemid 27521266)
11. Kerstjens-Frederikse WS, Sarvaas GJ, Ruiter JS, et al. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives? Heart 2011;97:1228-32.
12. Cripe L, Andelfinger G, Martin LJ, et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004;44:138-43. (Pubitemid 38968472)
13. McBride KL, Zender GA, Fitzgerald-Butt SM, et al. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet 2009;17:811-19.
14. Andelfinger G, Tapper AR, Welch RC, et al. KCNJ2 mutation results in Andersen syndrome with sexspecific cardiac and skeletal muscle phenotypes. Am J Hum Genet 2002;71:663-8. (Pubitemid 34970139)
15. Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005;437:270-4. (Pubitemid 41294491)
16. Mohamed SA, Aherrahrou Z, Liptau H, et al. Novel missense mutations (p.T596M and p.P1797H) in OTCH1 in patients with bicuspid aortic valve. Biochem Biophys Res Commun 2006;345:1460-5. (Pubitemid 43817895)
17. McBride KL, Riley MF, Zender GA, et al. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 2008;17:2886-93.
18. Biner S, Rafique AM, Ray I, et al. Aortopathy is prevalent in relatives of bicuspid aortic valve patients. J Am Coll Cardiol 2009;53:2288-95.
19. McKellar SH, Tester DJ, Yagubyan M, et al. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg 2007;134:290-6. (Pubitemid 47088578)
20. Martin LJ, Ramachandran V, Cripe LH, 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 2007;121:275-84. (Pubitemid 46404461)
21. Garg V. Molecular genetics of aortic valve disease. Curr Opin Cardiol 2006 21:180-4. (Pubitemid 44315080)
22. Bonow RO, Carabello BA, Chatterjee K, et al. 2008 Focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the 1998 Guidelines for the Management of Patients With Valvular Heart Disease): endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. Circulation 2008;118:e523-661.
23. Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/ SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010;121:e266-369.
24. Wilson JM, Jungner G. Principles and Practice of Mass Screening for Disease. Public Health Paper No 34. Geneva: World Health Organization, 1969.
25. Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol 2008;52:e1-121.