Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: Frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

European Journal of Pediatrics

Volumn 167, Issue 10, 2008, Pages 1135-1140

  Ziolkowska, Lidia ^a,b   Kawalec, Wanda ^a   Turska Kmiec, Anna ^a   Krajewska Walasek, Malgorzata ^a   Brzezinska Rajszys, Grazyna ^a   Daszkowska, Jadwiga ^a   Maruszewski, Bogdan ^a   Burczynski, Piotr ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b NONE   (Poland)

Author keywords

Cardiac surgery outcome; Chromosome 22q11.2 microdeletion; Congenital heart disease; Conotruncal heart defect

Indexed keywords

AORTA ARCH INTERRUPTION; ARTICLE; CARDIOVASCULAR MALFORMATION; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; FALLOT TETRALOGY; HEART SURGERY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MAJOR CLINICAL STUDY; NEWBORN; PATENT DUCTUS ARTERIOSUS; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AORTA, THORACIC; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; HEART DEFECTS, CONGENITAL; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; INFANT; INFANT, NEWBORN; POSTOPERATIVE COMPLICATIONS; PROSPECTIVE STUDIES; PULMONARY ATRESIA; SUBCLAVIAN ARTERY; TETRALOGY OF FALLOT; TRANSPOSITION OF GREAT VESSELS; TREATMENT OUTCOME; TRUNCUS ARTERIOSUS;

EID: 50249123938     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0645-2     Document Type: Article

References (23)

1. F Amati A Mari MC Digilio R Mingarelli B Marino A Gianotti G Novelli B Dallapiccola 1995 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot Hum Genet 95 479 482
2. HH Ardinger RH Ardinger Jr 2002 Clinical presentation of velo-cardio-facial syndrome Progr Pediat Cardiol 15 93 97
3. LD Botto K May PM Fernhoff A Correa K Coleman SA Rasmussen RK Merritt LA O'Leary LY Wong EM Elixson WT Mahle RM Campbell 2003 A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population Pediatrics 112 101 107
4. EL Bove FM Lupinetti AK Pridjian RH Beekman 3rd LB Callow AR Snider A Rosenthal 1993 Results of a policy of primary repair of truncus arteriosus in the neonate J Thorac Cardiovasc Surg 105 6 1057 1065
5. CP Brizard A Cochrane C Austin F Nomura TR Karl 1997 Management strategy and long-term outcome for truncus arteriosus Eur J Cardiothorac Surg 11 4 687 695
6. J Burn A Takao D Wilson I Cross K Momma R Wadley P Scambler J Goodship 1993 Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11 J Med Genet 30 822 824
7. M Chessa G Butera P Bonhoeffer L Iserin J Kachaner S Lyonnet A Munnich D Sidi D Bonnet 1998 Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect Heart 79 2 186 190
8. S Fokstuen U Arbenz S Artan F Dutly U Bauersfeld L Brecevic M Fasnacht B Röthlisberger A Schinzel 1998 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin Clin Genet 53 63 69
9. E Goldmuntz BJ Clark LE Mitchell BF Cuneo L Reed D McDonald-McGinn P Chien J Feuer EH Zackai BS Emanuel DA Driscoll 1998 Frequency of 22q11 deletions in patients with conotruncal defects J Am Coll Cardiol 32 492 498
10. CH Jones MJ Gawronski 2002 The genetics of 22q11.2 deletion syndrome Progr Pediat Cardiol 15 99 101
11. B Marino MC Digilio A Toscano 2002 Common arterial trunk, DiGeorge syndrome and microdeletion 22q11 Progr Pediat Cardiol 15 9 17
12. B Marino MC Digilio S Grazioli R Formigari R Mingarelli A Giannotti B Dallapiccola 1996 Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot Am J Cardiol 77 505 508
13. B Marino MC Digilio A Toscano S Anaclerio A Giannotti C Feltri MA de Ioris A Angioni B Dallapiccola 2001 Anatomic patterns of conotruncal defects associated with deletion 22q11 Genet Med 3 1 45 48
14. DM McDonald-McGinn R Kirschner E Goldmuntz K Sullivan P Eicher M Gerdes E Moss C Solot P Wang I Jacobs S Handler C Knightly L Heher M Wilson JE Ming K Grace D Driscoll P Pasquariello P Randall D Larossa BS Emanuel EH Zackai 1999 The Philadelphia story: the 22q11.2 deletion: report on 250 patients Genet Couns 1 11 24
15. K Momma M Ando R Matsuoka 1997 Truncus arteriosus communis associated with chromosome 22q11 deletion J Am Coll Cardiol 30 4 1067 1071
16. K Momma C Kondo M Ando R Matsuoka A Takao 1995 Tetralogy of Fallot associated with chromosome 22q11 deletion Am J Cardiol 76 618 621
17. K Momma C Kondo R Matsuoka 1996 Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion J Am Coll Cardiol 27 198 202
18. CB Powell FM Stone DL Atkins DG Watson JH Moller 1997 Operative mortality and frequency of coexistent anomalies in interruption of the aortic arch Am J Cardiol 79 8 1147 1148
19. VM Reddy DB McElhinney Z Amin P Moore AJ Parry DF Teitel FL Hanley 2000 Early and intermediate outcomes after repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: experience with 85 patients Circulation 101 1826 1832
20. DK Rhoden L Leatherbury S Helman M Gaffney WB Strong MF Guill 1996 Abnormalities in lymphocyte populations in infants with neural crest cardiovascular defects Pediatr Cardiol 17 3 143 149
21. AK Ryan JA Goodship DI Wilson N Philip A Levy H Seidel 1997 Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study J Med Genet 34 798 804
22. RJ Shprintzen 2005 Velo-cardio-facial syndrome Progr Pediat Cardiol 20 187 193
23. D Young RJ Shprintzen RB Goldberg 1980 Cardiac malformations in the velocardiofacial syndrome Am J Cardiol 46 643 648