Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11

Ultrasound in Obstetrics and Gynecology

Volumn 20, Issue 4, 2002, Pages 327-331

  Volpe, P ^a   Marasini, M ^b   Caruso, G ^c   Gentile, M ^d  

^a DI VENERE HOSPITAL   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

Author keywords

22q11 microdeletion; Interrupted aortic arch

Indexed keywords

AORTA ARCH INTERRUPTION; ARTICLE; AUTOPSY; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DIGEORGE SYNDROME; ECHOCARDIOGRAPHY; FETUS; HUMAN; IN SITU HYBRIDIZATION; POSTNATAL CARE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SURGICAL TECHNIQUE; TREATMENT OUTCOME;

AORTA, THORACIC; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FEASIBILITY STUDIES; FEMALE; FETAL DISEASES; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0036034845     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2002.00818.x     Document Type: Article

References (29)

1. Clark EB, Nakazawa M, Takao A. Etiology and Morphogenesis of Congenital Heart Disease. Twenty Years of Progress in Genetics and Developmental Biology. New York: Futura Publishing Inc., 2000
2. Srivastava D, Olson EN. A genetic blueprint for cardiac development. Nature 2000; 407: 221-6
3. Kirby ML, Waldo KL. Neural crest and cardiovascular patterning. Circ Res 1995; 77: 211-5
4. Waldo KL, Zdanowicz M, Burch J, Kumiski DH, Stadt HA, Godt RE, Creazzo T, Kirby ML. A novel role for cardiac neural crest in heart development. J Clin Invest 1999; 103: 1499-507
5. Iserin L, Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 1998; 157: 881-4
6. Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 2001; 3 (1): 45-8
7. Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Sphrintzen RJ, Baldini A. Velo-cardio-facial syndrome: Frequency and extent of 22q11 deletions. Am J Med Genet 1995; 57: 514-22
8. Takahashi K, Kuwahara T, Nagatsu M. Interruption of the aortic arch at the isthmus with DiGeorge syndrome and 22q11.2 deletion. Cardiol Young 1999; 9: 516-8
9. Lewin MB, Lindsay EA, Jurecic V, Goytia B, Towbin J, Baldini A. A genetic aetiology for interruption of the aortic arch type B. Am J Cardiol 1997; 80: 493-7
10. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zachai EH, Emanuel BS, Driscoll DA. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998; 32: 492-8
11. Rauch A, Hofbeck M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am J Med Genet 1998; 78: 322-31
12. Raymond FL, Simpson JM, Mackie CM, Sharland GK. Prenatal diagnosis of 22q11 deletions: A series of five cases with congenital heart defects. J Med Genet 1997; 34: 679-82
13. Paladini D, Pacileo G, Palmieri S, Russo MG, Conti A, Dallapiccola B, Martinelli P. Prenatal diagnosis of 22q11 microdeletion in a fetus with conotruncal heart defect. Ultrasound Obstet Gynecol 1998; 11: 68-70
14. Boudjemline Y, Fermont L, Le Bidois J, Lyonnet S, Sidi D, Bonnet D. Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study. J Pediatr 2001; 138: 520-4
15. Allan LD. Fetal echocardiography. In Moller JH, Hoffman JIE, eds. Pediatric Cardiovascular Medicine. Philadelphia: Churchill Livingstone, 2000, 187-202
16. Johnson MC, Hing A, Wood MK, Watson MS. Chromosome abnormalities in congenital heart disease. Am J Med Genet 1997; 70: 292-8
17. Bonnet D, Coltri A, Butera G, Fermont L, Le Bidois J, Kachaner J, Sidi D. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Circulation 1999; 99: 916-8
18. Allan LD, Sharland GK, Milburn A, Lockhart SM, Groves AM, Anderson RH, Cook AC, Fagg NL. Prospective diagnosis of 1006 consecutive cases of congenital heart disease in the fetus. J Am Coll Cardiol 1994; 23: 1452-8
19. Marasini M, Pongiglione G, Lituania M, Cordone M, Porro E, Garello-Cantoni L. Aortic arch interruption: Two-dimensional echocardiographic recognition in utero. Pediatr Cardiol 1985; 6: 147-9
20. Freedom RM, Bain HH, Esplugas E, Dische R, Rowe RD. Ventricular septal defect in interruption of aortic arch. Am J Cardiol 1977; 39: 579-82
21. McElhinney DB, Anderson RH. Developmental anomalies of the outflow tracts and aortic arch: Towards an understanding of the role of deletions within the 22nd chromosome. Cardiol Young 1999; 9: 451-7
22. Marino B, Digilio MG, Persiani M, Di Donato R, Toscano A, Giannotti A, Dallapiccola B. Deletion 22q11 in patients with interrupted aortic arch. Am J Cardiol 1999; 84: 360-1
23. Momma K, Ando M, Matsuoka R, Joo K. Interruption of the aortic arch associated with deletion of chromosome 22q11 associated with subarterial and doubly committed ventricular septal defect in Japanese patients. Cardiol Young 1999; 9: 463-7
24. Van Mierop LHS, Kutsche LM. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 1986; 58: 133-7
25. Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Rothlisberger B, Schinzel A. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: Incidence, type of defects and parental origin. Clin Genet 1998; 53: 63-9
26. Yamagishi H, Grad V, Matsuoka R, Thomas T, Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999; 283: 1158-61
27. Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. Tbx1 is responsible for cardiovascular defects in velocardio-facial/DiGeorge syndrome. Cell 2001; 104 (4): 619-29
28. Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for T-box gene Tbx1. Nat Genet 2001; 27: 286-91
29. Clark EB. Mechanisms in the pathogenesis of congenital cardiac malformations. In Pierpont ME, Moller JH, eds. Genetics of Cardiovascular Disease. Boston: Martinus-Nijhoff, 1986, 3-11