Idiopathic mitral valve disease in a patient presenting with Axenf eld-Rieger syndrome

Journal of Heart Valve Disease

Volumn 18, Issue 3, 2009, Pages 349-351

  Antevil, Jared ^a   Umakanthan, Ramanan ^a   Leacche, Marzia ^a   Brewer, Zachary ^a   Solenkova, Natalia ^a   Byrne, John G ^a   Greelish, James P ^a  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; EYE MALFORMATION; HUMAN; MALE; MITRAL VALVE; MITRAL VALVE REGURGITATION; SYNDROME;

ADULT; EYE ABNORMALITIES; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MITRAL VALVE; MITRAL VALVE INSUFFICIENCY; SYNDROME;

EID: 68949175298     PISSN: 09668519     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Dressier P, Gramer E. Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension. Ophthalmologic 2006;103:393-400 (Pubitemid 43724265)
2. Baruch AC, Erickson RP. Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der (6) t (6;8). Am J Med Genet 2001;100:187-190 (Pubitemid 32303916)
3. Cunningham ET, Jr., Eliott D, Miller NR, Maumenee IH, Green WR. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorimotor hearing loss: A possible new genetic syndrome. Arch Ophthalmol 1988;116:78-82
4. Mammi I, De Giorgio P, Celementi M, Tenconi R. Cardiovascular anomaly in Rieger syndrome: Heterogeneity or continuity? Acta Ophthalmol Scand 1998;76:509-512 (Pubitemid 28376959)
5. Nakamura T, Colbert M, Robbins J. Neural crest cells retain multipotential characteristics in the developing valves and label the cardiac conduction system. Circ Res 2006;98:1547-1554 (Pubitemid 44297078)
6. Grosso S, Farnetani MA, Berardi R, et al. Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome? Am J Med Genet 2002;111:182-186 (Pubitemid 34809501)
7. Vieira V, David G, Roche O, et al. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. Mol Vis 2006;12:1448-1460 (Pubitemid 44942829)
8. Franco D, Campione M. The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. Trends Cardiovasc Med 2003;13:157-163 (Pubitemid 36547685)
9. Liu C, Liu W, Palie J, Lu MF, Brown NA, Martin JF. Pitx2c patterns anterior myocardium and aortic arch vessels and is required for local cell movement into atrioventricular cushions. Development 2002;129:5081-5091 (Pubitemid 35355924)