Genetics of cardiological disorders

Seminars in Fetal and Neonatal Medicine

Volumn 10, Issue 3, 2005, Pages 259-269

  Manning, Nicky ^a   Kaufman, Louise ^b   Roberts, Philip ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Congenital heart disease; De novo; Deletion; Mutation; Recurrence; Syndrome

Indexed keywords

ALAGILLE SYNDROME; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; EPIDEMIOLOGICAL DATA; FALLOT TETRALOGY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC PROCEDURES; HEART DISEASE; HOLT ORAM SYNDROME; HUMAN; LABORATORY TEST; MEDICAL INFORMATION; NEWBORN PERIOD; NOONAN SYNDROME; PHENOTYPE; PRENATAL DIAGNOSIS; PROGNOSIS; QUANTITATIVE TRAIT LOCUS; RECURRENT DISEASE; REVIEW; RISK ASSESSMENT; SYNDROME CHARGE; TRISOMY 13; TRISOMY 18; TRISOMY 21; TURNER SYNDROME; WILLIAMS BEUREN SYNDROME;

EID: 20144366449     PISSN: 1744165X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.siny.2005.04.010     Document Type: Article

References (32)

1. J.I. Hoffman S. Yagel N. Silverman U. Gembruch Fetal cardiology: embryology, genetics, physiology, echocardiographic evaluation, diagnosis and perinatal management of cardiac diseases 2002 Taylor and Francis London 79 87
2. B. Marino, and M.C. Digilio Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype Cardiovasc Pathol 9 2000 303 315
3. I.D. Krantz, D.A. Piccoli, and N.B. Spinner Alagille syndrome J Med Genet 34 1997 152 157
4. D.B. McElhinney, I.D. Krantz, L. Bason Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome Circulation 106 2002 2567 2574
5. B.D. Gelb Genetic basis of congenital heart disease Curr Opin Cardiol 19 2004 110 115
6. A.L. Tellier, V. Cormier-Daire, V. Abadie CHARGE syndrome: report of 47 cases and review Am J Med Genet 76 1998 402 409
7. R.K. Wyse, S. al-Mahdawi, J. Burn, and K. Blake Congenital heart disease in CHARGE association Pediatr Cardiol 14 1993 75 81
8. T. Bossert, T. Walther, J. Gummert, R. Hubald, M. Kostelka, and F.W. Mohr Cardiac malformations associated with the Holt-Oram syndrome - report on a family and review of the literature Thorac Cardiovasc Surg 50 2002 312 314
9. T. Huang Current advances in Holt-Oram syndrome Curr Opin Pediatr 14 2002 691 695
10. R.A. Newbury-Ecob, R. Leanage, J.A. Raeburn, and I.D. Young Holt-Oram syndrome: a clinical genetic study J Med Genet 33 1996 300 307
11. A. Chakraborty Noonan syndrome: a brief overview Hosp Med 63 2002 743 745
12. N.A. Tramboo, K. Iqbal, M.A. Dar, R.A. Malik, B.A. Naikoo, and M.A. Andrabi Unusual dysmorphic features in five patients with Noonan's syndrome: a brief review J Paediatr Child Health 38 2002 521 525
13. M. Burch, M. Sharland, E. Shinebourne, G. Smith, M. Patton, and W. McKenna Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients J Am Coll Cardiol 22 1993 1189 1192
14. M. Menashe, R. Arbel, D. Raveh, R. Achiron, and S. Yagel Poor prenatal detection rate of cardiac anomalies in Noonan syndrome Ultrasound Obstet Gynecol 19 2002 51 55
15. M. Barr Jr., and L. Oman-Ganes Turner syndrome morphology and morphometrics: cardiac hypoplasia as a cause of midgestation death Teratology 66 2002 65 72
16. N.H. Birkebaek, D. Cruger, J. Hansen, J. Nielsen, and G. Bruun-Petersen Fertility and pregnancy outcome in Danish women with Turner syndrome Clin Genet 61 2002 35 39
17. C.O. Gotzsche, B. Krag-Olsen, J. Nielsen, K.E. Sorensen, and B.O. Kristensen Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome Arch Dis Child 71 1994 433 436
18. A.E. Lin The heart of Turner syndrome: small matters Teratology 66 2002 63 64
19. M.M. Nezarati, and D.R. McLeod VACTERL manifestations in two generations of a family Am J Med Genet 82 1999 40 42
20. M. Eronen, M. Peippo, A. Hiippala Cardiovascular manifestations in 75 patients with Williams syndrome J Med Genet 39 2002 554 558
21. Y.Q. Wu, V.R. Sutton, E. Nickerson Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin Am J Med Genet 78 1998 82 89
22. P. Stromme, P.G. Bjornstad, and K. Ramstad Prevalence estimation of Williams syndrome J Child Neurol 17 2002 269 271
23. J.A. Harris, C. Francannet, P. Pradat, and E. Robert The epidemiology of cardiovascular defects. Part 2. A study based on data from three large registries of congenital malformations Pediatr Cardiol 24 2003 222 235
24. D.B. McElhinney, D.A. Driscoll, B.S. Emanuel, and E. Goldmuntz Chromosome 22q11 deletion in patients with truncus arteriosus Pediatr Cardiol 24 2003 569 573
25. W.T. Mahle, J. Crisalli, K. Coleman Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect Ann Thorac Surg 76 2003 567 571
26. E. Perez, and K.E. Sullivan Chromosome 22q11.2 deletion syndrome (Di George and velocardiofacial syndromes) Curr Opin Pediatr 14 2002 678 683
27. O. Bartsch, M. Nemeckova, E. Kocarek Di George/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion Am J Med Genet 117A 2003 1 5
28. C. Barrea, S.J. Yoo, D. Chitayat Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion Prenat Diagn 23 2003 9 15
29. N.N. Musewe, D.J. Alexander, I. Teshima, J.F. Smallhorn, and R.M. Freedom Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18 J Am Coll Cardiol 15 1990 673 677
30. S.B. Freeman, L.F. Taft, K.J. Dooley Population-based study of congenital heart defects in Down syndrome Am J Med Genet 80 1998 213 217
31. D.A. Nyberg, and V.L. Souter Use of genetic sonography for adjusting the risk for fetal Down syndrome Semin Perinatol 27 2003 130 144
32. J.D. Bristow, and H.S. Bernstein Counseling families with chromosome 22q11 deletions: the catch in CATCH-22 J Am Coll Cardiol 32 1998 499 501