Congenital cardiovascular disease and velo-cardio-facial syndrome

doi:10.1017/CBO9780511544101.004

3 - Congenital cardiovascular disease and velo-cardio-facial syndrome

Published online by Cambridge University Press: 11 August 2009

Bruno Marino ,

Federica Mileto ,

Maria Cristina Digilio ,

Adriano Carotti and

Roberto Di Donato

Edited by

Kieran C. Murphy and

Peter J. Scambler

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Bruno Marino: Affiliation:
Department of Pediatrics, University of Rome “La Sapienza”, Italy
Federica Mileto: Affiliation:
Department of Pediatrics, University of Rome “La Sapienza”, Italy
Maria Cristina Digilio: Affiliation:
Department of Clinical Genetics, Bambino Gesù Hospital, Rome, Italy
Adriano Carotti: Affiliation:
Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
Roberto Di Donato: Affiliation:
Department of Pediatic Cardiac Surgery, Bambino Gesù Hospital, Rome, Italy
Kieran C. Murphy: Affiliation:
Education and Research Centre, Royal College of Surgeons of Ireland
Peter J. Scambler: Affiliation:
Institute of Child Health, University College London

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Summary

Cardiovascular defects (CVD) are an important feature in children with DiGeorge/velo-cardio-facial/conotruncal anomaly face syndrome (DGS/VCFS/CTAF) associated with a chromosome 22q11 deletion (del 22q11). In a landmark paper, Freedom et al. (1972) reported a series of ten patients with conotruncal anomalies and aortic arch anomalies associated with DiGeorge syndrome (Freedom et al., 1972). In the last 20 years, many papers have documented various types of congenital heart defects in this condition (Kinouchi et al., 1976; Young et al., 1980; Conley et al., 1979; Moerman et al., 1980; Marmon et al., 1984; Van Mierop & Kutsche, 1986; Goldmuntz et al., 1993, 1998; Takahashi et al., 1995; Lewin et al., 1996; Webber et al., 1996; Momma et al., 1996a; Marino et al., 1997a, 1999b, 2001; Mehraein et al., 1997; Fokstuen et al., 1998; Iserin et al., 1998; Borgmann et al., 1999; Young et al., 1999; Frohn-Mulder et al., 1999).

Cardiovascular defects affect 75% of VCFS individuals and are the major cause of mortality (about 90% of all deaths) in this syndrome (Ryan et al., 1997; Matsuoka et al., 1998). Thus, VCFS represents a very important syndrome in pediatric cardiology and, after Down syndrome, is the most frequent genetic condition associated with CVD (Goodship et al., 1998).

It is interesting to note that the first description of a congenital heart defect in a patient probably affected by a del 22q11 was made in 1671 by Nicolai Stensen.

Keywords

chromosome 22q11 deletion congenital cardiovascular disease conotruncal anomaly face syndrome DiGeorge syndrome velo-cardio-facial syndrome prenatal diagnosis surgical implication

Information

Type: Chapter
Information: Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
, pp. 47 - 82

DOI: https://doi.org/10.1017/CBO9780511544101.004 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2005

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References

Ackerman, M. J., Wylam, M. E., Feldt, R. H.et al. (2001) Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness. J. Thorac. Cardiovasc. Surg. 122 (1), 169–77.Google Scholar

Agnoletti, G., Borghi, A. & Annecchino, F. (2001) A rare form of interrupted aortic arch. Ital. Heart J., 2 (3), 228–30.Google Scholar

Albanese, S. B., Carotti, A., D'Argenio, P. et al. (2000) Is 22q11 microdeletion a risk factor for perioperative fungal infections in patients operated on for PA-VSD-MAPCAs? Proceedings, Third International Meeting of the Therapy of Infectious Disease. Florence.

Amati, F., Mari, A., Digilio, M. C.et al. (1995) 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum. Genet., 95, 479–82.Google Scholar

Anaclerio, S., Marino, B., Carotti, A.et al. (2001) Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns. Ital. Heart J., 2 (5), 384–7.Google Scholar

Anaclerio, S., Di Ciompo, V., Michielon, G.et al. (2004) Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital. Heart J., 5 (8), 624–628.Google Scholar

Bennhagen, R. G. & Menahem, S. (1998) Holt–Oram syndrome and multiple ventricular septal defects: an association suggesting a possible genetic marker? Cardiol. Young. 8, 128–30.Google Scholar

Besson, W. T., Kirby, M. L., Mierop, L. H. S.et al. (1986) Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects. Circulation 73, 360–4.Google Scholar

Bonhoeffer, P., Fabbrocini, M., Lecompte, Y.et al. (1992) Infundibular septal defect with severe aortic regurgitation: a new surgical approach. Ann. Thorac. Surg., 53 (5), 851–3.Google Scholar

Bonnet, D., Fermont, L., Kachaner, J.et al. (1999) Tricuspid atresia and conotruncal malformations in five families. J. Med. Genet., 36, 349–50.Google Scholar

Borgmann, S., Luhmer, I., Arslan-Kirchner, M.et al. (1999) A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients. Eur. J. Pediatr., 158, 958–63.Google Scholar

Boudjemline, Y., Fermont, L., Bidois, J.et al. (2000) Prenatal diagnosis of conotruncal heart diseases. Result in 337 cases. Arch. Mal. Coeur. Vaiss., 93 (5), 583–6.Google Scholar

Boudjemline, Y., Fermont, L., Bidois, J.et al. (2001) Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-years prospective study. J. Pediatr., 138, 520–4.Google Scholar

Bove, E. L., Minich, L. L., Pridjian, A. K.et al. (1993) The management of severe subaortic stenosis, ventricular septal defect, and aortic arch obstruction in the neonate. J. Thorac. Cardiovasc. Surg., 105 (2), 289–96.Google Scholar

Braunlin, E., Peoples, W. M., Freedom, R. M.et al. (1982) Interruption of the aortic arch with aorticopulmonary septal defect. Ped. Cardiol., 3, 329–35.Google Scholar

Bristow, J. D. & Bernstein, H. S. (1998) Counseling families with chromosome 22q11 deletions: the catch in CATCH-22. J. Am. Coll. Cardiol. 32 (2), 499–501.Google Scholar

Brizard, C. P., Cochrane, A., Austin, C.et al. (1997) Management strategy and long-term outcome for truncus arteriosus. Eur. J. Cardiothorac. Surg. 11 (4), 687–96.Google Scholar

Carotti, A., Marino, B., Bevilacqua, M.et al. (1997) Primary repair of isolated ventricular septal defect in infancy guided by echocardiography. Am. J. Cardiol., 79, 1498–501.Google Scholar

Carotti, A., Di Donato, R. M., Squitieri, C.et al. (1998) Total repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: an integrated approach. J. Thorac. Cardiovasc. Surg., 116 (6), 914–23.Google Scholar

Carotti, A., Marino, B. & Di Donato, R. M. (2003) Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of Fallot with pulmonary atresia. J. Thorac. Cardiovasc. Surg., 126 (4), 1666–7.Google Scholar

Castaneda, A. R., Mayer, J. E. Jr., Jonas, R. A.et al. (1989) The neonate with critical congenital heart disease: repair – a surgical challenge. J. Thorac. Cardiovasc. Surg. 98 (5), 869–75.Google Scholar

Celoria, C. G. & Patton, R. B. (1959) Congenital absence of the aortic arch. Am. Heart J., 58, 407–13.Google Scholar

Chessa, M., Butera, G., Bonhoeffer, P.et al. (1998). Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart, 79, 186–90.Google Scholar

Conley, M. E., Beckwith, J. B., Mancer, J. F. K.et al. (1979) The spectrum of the DiGeorge syndrome. J. Pediatr., 94, 883–90.Google Scholar

Consevage, M. W., Seip, J. R., Belchis, D. A.et al. (1996) Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome. Am. J. Cardiol., 77, 1023–5.Google Scholar

Conti, E., Grifone, N., Sarkozy, A.et al. (2003) DiGeorge subtypes of non syndromic conotruncal defects: evidence against a major role of TBX1 gene. Eur. J. Hum. Genet., 11, 349–51.Google Scholar

Conway, K., Gibson, R. L., Perkins, J.et al. (2002) Pulmonary agenesis: expansion of the VCFS phenotype. Am. J. Med. Genet., 113, 89–92.Google Scholar

Dallapiccola, B., Marino, B., Giannotti, A.et al. (1989) DiGeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature. Ann. Genet., 32 (2), 92–6.Google Scholar

Cruz, M. V., Cayre, R., Angelici, P.et al. (1990) Coronary arteries in truncus arteriosus. Am. J. Cardiol., 66 (20), 1482–6.Google Scholar

Digilio, M. C., Marino, B., Giannotti, A.et al. (1996a) Search for 22q11 deletion in non-syndromic conotruncal cardiac defects. Eur. J. Pediatr., 155, 619–24.Google Scholar

Digilio, M. C., Marino, B., Grazioli, S.et al. (1996b) Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia. Am. J. Cardiol., 77, 1375–6.Google Scholar

Digilio, M. C., Marino, B., Giannotti, A.et al. (1997a) Conotruncal heart defects and chromosome 22q11 microdeletion. J. Pediatr., 130, 675–7.Google Scholar

Digilio, M. C., Marino, B., Giannotti, A.et al. (1997b) Familial deletions of chromosome 22q11. Am. J. Med. Genet., 73, 95–6.Google Scholar

Digilio, M. C., Marino, B., Ammirati, A.et al. (1999a) Cardiac malformations in patients with oral-facial-skeletal syndrome: clinical similarities with heterotaxia. Am. J. Genet., 84, 350–6.Google Scholar

Digilio, M. C., Marino, B., Giannotti, A.et al. (1999b). Guidelines for 22q11 deletion screening of patients with conotruncal defects. J. Am. Coll. Cardiol., 33 (6), 1746–7.Google Scholar

Digilio, M. C., Casey, B., Toscano, A.et al. (2001) Complete transposition of the great arteries. Patterns of congenital heart disease in familial precurrence. Circulation, 104, 2809–14.Google Scholar

Digilio, M. C., Angioni, A., Santis, M.et al. (2003a) Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin. Genet., 63, 1–6.Google Scholar

Digilio, M. C., Marino, B. & Dallapiccola, B. (2003b) Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). Am. J. Med. Genet., 121, 286–8.Google Scholar

Dodo, H., Alejos, J. C., Perlof, J. K.et al. (1995) Anomalous origin of the left main pulmonary artery from the ascending aorta associated with DiGeorge syndrome. Am. J. Cardiol., 75, 1294–5.Google Scholar

Ferencz, C., Loffredo, C. A. & Correa-Villasenor, A. (1997) Genetic and enviromental risk factors of major cardiovascular malformations: the Baltimore–Washington Infant Study 1981–1989. Armonk, Futura, New York.

Fokstuen, S., Arbenz, U., Artan, S.et al. (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, 63–9.Google Scholar

Francalanci, P., Marino, B., Boldrini, R.et al. (1996) Morphology of the atrioventricular valve in asplenia syndrome: a peculiar type of atrioventricular canal defect. Cardiovasc. Pathol., 5, 145–51.Google Scholar

Franklin, R. C. G., Onuzo, O., Miller, P. A.et al. (1996) Transfusion associated graft-versus-host disease in DiGeorge syndrome – index case report with survey of screening procedures and use of irradiated blood components. Cardiol. Young., 6, 222–7.Google Scholar

Freedom, R. M., Rosen, F. S. & Nadas, A. S. (1972) Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch. Circulation, 46, 165–72.Google Scholar

Frohn-Mulder, I. M. E., Wesby, V., Swaay, E.et al. (1999) Chromosome 22q11 deletions in patients with selected outflow tract malformations. Genet. Counsel., 10 (1), 35–41.Google Scholar

Garg, V., Kathiriya, I. S., Barnes, R.et al. (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature, 424, 443–7.Google Scholar

Goldmuntz, E., Driscoll, D., Budarf, M. L.et al. (1993) Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J. Med. Genet., 30, 807–12.Google Scholar

Goldmuntz, E., Clark, B. J., Mitchell, L. E.et al. (1998) Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. Coll. Cardiol., 32 (2), 492–8.Google Scholar

Goodship, J., Gross, I., Scambler, P.et al. (1995). Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet., 32, 746–8.Google Scholar

Goodship, J., Cross, I., LiLing, J.et al. (1998) A population study of chromosome 22q11 deletions in infancy. Arch. Dis. Child., 79, 348–51.Google Scholar

Hofbeck, M., Rauch, A., Buheitel, G.et al. (1998). Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Heart, 79 (2), 180–5.Google Scholar

Hokanson, J. S., Pierpont, M. E., Hirsch, B.et al. (2001) 22q11.2 microdeletions in adults with familial tetralogy of Fallot. Genet. Med., 3 (1), 61–4.Google Scholar

Hutha, J. C., Glasow, P., Murphy, D. J. Jr.et al. (1987) Surgery without catheterization for congenital heart defects: management of 100 patients. J. Am. Coll. Cardiol., 9, 823–9.Google Scholar

Iascone, M. R., Vittorini, S., Sacchelli, M.et al. (2002) Molecular characterization of 22q11 deletion in a three-generation family with maternal transmission. Am. J. Med. Genet., 108, 319–21.Google Scholar

Ilbawi, M. N., Fedorchik, J., Muster, A. J.et al. (1986) Surgical approach to severely symptomatic newborn infants with tetralogy of Fallot and absent pulmonary valve. J. Thorac. Cardiovasc. Surg., 91 (4), 584–9.Google Scholar

Iserin, L., Lonlay, P., Viot, G.et al. (1998) Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur. J. Pediatr., 157, 881–4.Google Scholar

Iyer, K. S. & Mee, R. B. (1991) Staged repair of pulmonary atresia with ventricular septal defect and major systemic to pulmonary artery collaterals. Ann. Thorac. Surg., 51 (1), 65–72.Google Scholar

Jadele, K. B., Michels, V. V., Puga, F. J.et al. (1992) Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Pediatrics, 89 (5), 915–19.Google Scholar

Johnson, M. C., Strauss, A. W., Dowton, S. B.et al. (1995a) Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am. J. Cardiol., 76, 66–9.Google Scholar

Johnson, M. C., Watson, M. S., Strauss, A. W.et al. (1995b) Anomalous origin of the right pulmonary artery from the aorta and CATCH 22 syndrome. Ann. Thorac. Surg., 60, 681–3.Google Scholar

Johnson, M. C., Watson, M. S. & Strauss, A. W. (1996) Chromosome 22q11 monosomy and the genetic basis of congenital heart disease. J. Pediatr., 129 (1), 1–3.Google Scholar

Kazuma, N., Murakami, M., Suzuki, Y.et al. (1997). Cervical aortic arch associated with 22q11.2 deletion. Pediatr. Cardiol., 18 (2), 149–51.Google Scholar

Kieran, M., Thompson, P. W., Davies, S. J.et al. (1999) The prevalence of chromosome 22q11 deletions in an adult congenital heart disease population. J. Med. Genet., 36 (1), S59.Google Scholar

Kinouchi, A., Mori, K., Ando, M.et al. (1976) Facial appearance with conotruncal anomalies. Pediatr. Jpn., 17, 84–9.Google Scholar

Kumar, A., Sapire, D. W., Lockhart, L. H.et al. (1996) Atrioventricular septal defect with pulmonary atresia in DiGeorge anomaly: expansion of the cardiac phenotype. Am. J. Med. Genet., 61, 89–91.Google Scholar

Kumar, A., McCombs, J. L. & Sapire, D. W. (1997) Deletions in chromosome 22q11 region in cervical aortic arch. Am. J. Cardiol., 79, 388–90.Google Scholar

Leana-Cox, J., Pangkanon, S., Eanet, K. R.et al. (1996) Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11: report of five families with a review of the literature. Am. J. Med. Genet., 65, 309–16.Google Scholar

Lee, M. G., Chiu, I. S., Fang, W.et al. (1999) Isolated infundibuloarterial inversion and fifth aortic arch in an infant: a newly recognized cardiovascular phenotype with chromosome 22q11 deletion. Int. J. Cardiol., 71, 89–91.Google Scholar

Lee, M. L., Chaou, W. T., Wang, Y. M.et al. (2001) A new embryologic linkage between chromosome 22 deletion and a right ductus from a right aortic arch in a neonate with DiGeorge syndrome. Int. J. Cardiol., 79, 315–16.Google Scholar

Lewin, M. B., Lindsay, E. A. & Baldini, A. (1996) 22q11 deletions and cardiac disease. Progr. Pediatr. Cardiol., 6, 19–28.Google Scholar

Lewin, M. B., Lindsay, E. A., Jurecic, V.et al. (1997) A genetic etiology for interruption of the aortic arch type B. Am. J. Cardiol., 80, 493–7.Google Scholar

Lewis, D. A., Loffredo, C. A. and Correa-Villasenor, A. (1996) Descriptive epidemiology of perimembranous and muscular ventricular septal defect in the Baltimore-Washington Infant Study. Cardiol. Young., 6, 281–90.Google Scholar

Li, C., Chudley, A. E., Soni, R.et al. (2003) Pulmonary atresia with intact ventricular septum and major aortopulmonary collaterals: associations with deletion 22q11.2. Pediatr. Cardiol., 24, 585–7.Google Scholar

Lindsay, E. A., Botta, A., Jurecic, V.et al. (1999) Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature, 401, 379–83.Google Scholar

Loffredo, C. A., Ferencz, C., Wilson, P. D.et al. (2000) Interrupted aortic arch: an epidemiologic study. Teratology, 61, 368–75.Google Scholar

Lu, H. J., Chung, M. Y., Betau, H.et al. (2001a) Molecular characterization of tetralogy of Fallot within DiGeorge critical region of the chromosome 22. Ped. Cardiol., 22 (4), 279–84.Google Scholar

Lu, J. H., Chung, M. Y., Hwang, B.et al. (2001b) Monozygotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular patterning. Pediatr. Cardiol., 22, 260–3.Google Scholar

Lucani, G. B. & Starnes, V. A. (1996). Clamshell for pulmonary atresia, ventricular septal defect, and aortopulmonary collaterals. Ann. Thorac. Surg., 62 (4), 1247–8.Google Scholar

Maeda, J., Yamagishi, H., Matsuoka, R.et al. (2000) Frequent association of 22q11.2 deletion with tetralogy of Fallot. Am. J. Med. Genet., 92, 269–72.Google Scholar

Maharasingam, M. & Ostam-Smith, I. (2003) A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery. Arch. Dis. Child., 88, 61–4.Google Scholar

Mahle, W. T., Crisalli, J., Coleman, K.et al. (2003) Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect. Ann. Thorac. Surg., 76 (2), 567–71.Google Scholar

Marino, B., Vairo, U., Corno, A.et al. (1990a) Atrioventricular canal in Down syndrome: prevalence of associated cardiac malformations compared with patients without Down syndrome. Am. J. Dis. Child., 144, 1120–2.Google Scholar

Marino, B., Corno, A., Carotti, A.et al. (1990b) Pediatric cardiac surgery guided by echocardiography. Scand. J. Cardiovasc. Surg., 24, 197–201.Google Scholar

Marino, B., Marcelletti, C., Giannotti, A.et al. (1991) DiGeorge anomaly with atrio-ventricular canal. Chest, 99, 242–3.Google Scholar

Marino, B., Digilio, M. C., Giannotti, A.et al. (1996a) Heterotaxia syndromes and 22q11 deletion. J. Med. Genet., 33 (12), 1052.Google Scholar

Marino, B., Digilio, M. C., Grazioli, S., et al. (1996b) Associated cardiac anomalies in isolated and syndromic patients with patients with tetralogy of Fallot. Am. J. Cardiol., 77, 505–8.Google Scholar

Marino, B., Digilio, M. C., Grazioli, S.et al. (1997a) Cardiac defect and deletion 22q11. J. Med. Genet., 34, 20.Google Scholar

Marino, B., Digilio, M. C., Novelli, G.et al. (1997b) Tricuspid atresia and 22q11 deletion. Am. J. Med. Genet., 72, 40–2.Google Scholar

Marino, B., Digilio, M. C. & Dallapiccola, B. (1998) Severe truncal valve displasia: association with DiGeorge syndrome? Ann. Thorac. Surg., 66, 980.Google Scholar

Marino, B., Digilio, M. C., Persiani, M.et al. (1999a) Deletion 22q11 in patients with interrupted aortic arch. Am. J. Cardiol., 84, 360–1.Google Scholar

Marino, B., Digilio, M. C., Toscano, A.et al. (1999b) Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del 22q11. Genet. Counsel., 10 (1), 25–33.Google Scholar

Marino, B., Digilio, M. C., Toscano, A.et al. (1999c) Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J. Pediatr., 136, 703–6.Google Scholar

Marino, B. & Digilio, M. C. (2000) Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc. Pathol., 9 (6), 303–15.Google Scholar

Marino, B., Digilio, M. C., Toscano, A.et al. (2001) Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet. Med., 3 (1), 45–8.Google Scholar

Marino, B., Digilio, M. C. & Toscano, A. (2002) Common arterial trunk, DiGeorge syndrome and microdeletion 22q11. Prog. Ped. Cardiol., 15, 9–17.Google Scholar

Marino, B. & Digilio, M. C. (2003) Tetralogy of Fallot with aortic valvular stenosis and deletion 22q11. Ann. Thorac. Surg., 75, 2007–12.Google Scholar

Marmon, L. M., Balsara, R. K., Chen, R.et al. (1984) Congenital cardiac anomalies associated with DiGeorge syndrome: a neonatal experience. Ann. Thorac. Surg., 38 (2), 146–50.Google Scholar

Matsuoka, R., Kimura, M., Scambler, P. J.et al. (1998). Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet. 103, 70–80.Google Scholar

McElhinney, D. B., Thompson, L. D., Weinberg, P. M.et al. (2000) Surgical approach to complicated cervical aortic arch: anatomic, developmental, and surgical considerations. Cardiol. Young., 10 (3), 212–19.Google Scholar

McElhinney, D. B., Clark, B. J., Weinberg, P. M.et al. (2001a) Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J. Am. Coll. Cardiol., 37 (8), 2114–19.Google Scholar

McElhinney, D. B., Hoydu, A. K., Gaynor, J. W.et al. (2001b) Patterns of right aortic arch and mirror-image branching of the brachiocefalic vessels without associated anomalies. Pediatr. Cardiol., 22, 285–91.Google Scholar

McElhinney, D. B., Jacobs, I., McDonald-McGinn, D. M.et al. (2002) Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int. J. Pediatr. Otorhinolaryngol., 66, 23–7.Google Scholar

McElhinney, D. B., Driscoll, D. A., Levin, E. R.et al. (2003) Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics, 112 (6), 472–6.Google Scholar

McGoon, D. C., Rastelli, G. C. & Ongley, P. A. (1968) An operation for the correction of truncus arteriosus. J. Am. Med. Assoc., 205 (2), 69–73.Google Scholar

Mehraein, Y., Wippermann, C. F., Michel-Behnke, I.et al. (1997) Microdeletion 22q11 in complex cardiovascular malformations. Hum. Genet., 99, 433–42.Google Scholar

Melchionda, S., Digilio, M. C., Mingarelli, R.et al. (1995) Transposition of the great arteries associated with deletion of chromosome 22q11. Am. J. Cardiol., 75, 95–8.Google Scholar

Michielon, G., Marino, B., Formigari, R. et al. (2004) Impact of genetic syndromes on surgical correction of tetralogy of Fallot. Circulation, Abstract Book, Am Heart Association.

Moerman, P., Goddeeris, P., Lauwerijns, J.et al. (1980) Cardiovascular malformations in DiGeorge syndrome (congenital absence or hypoplasia of the thymus). Br. Heart J., 44, 452–9.Google Scholar

Moerman, P., Dumoulin, M., Lauweryns, J.et al. (1987) Interrupted right aortic arch in DiGeorge syndrome. Br. Heart J., 58, 274–8.Google Scholar

Momma, K., Kondo, C., Ando, M.et al. (1995) Tetralogy of Fallot associated with chromosome 22q11 deletion. Am. J. Cardiol., 76, 618–21.Google Scholar

Momma, K., Kondo, C., Matsuoka, R.et al. (1996a) Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome. Am. J. Cardiol., 78, 591–4.Google Scholar

Momma, K., Kondo, C. & Matsuoka, R. (1996b) Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion. J. Am. Coll. Cardiol., 27 (1), 198–202.Google Scholar

Momma, K., Ando, M. & Matsuoka, R. (1997) Truncus arteriosus communis associated with chromosome 22q11 deletion. J. Am. Coll. Cardiol., 30 (4), 1067–71.Google Scholar

Momma, K., Ando, M., Matsuoka, R.et al. (1999a) Interruption of the aortic arch associated with deletion of chromosome 22q11 is associated with a subarterial and doubly committed ventricular septal defect in Japanese patients. Cardiol. Young., 9 (5), 451–7.Google Scholar

Momma, K., Matsuoka, R. & Takao, A. (1999b) Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr. Cardiol., 20, 97–102.Google Scholar

Momma, K., Takao, A., Matsuoka, R.et al. (2001) Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults. Genet. Med., 3 (1), 56–60.Google Scholar

Moran, A. M., Colan, S. D., Mayer, J. E.et al. (1999) Echocardiographic identification of thymic hypoplasia in tetralogy of Fallot/tetralogy pulmonary atresia. Am. J. Cardiol., 84, 1268–71.Google Scholar

Nakagawa, M., Okamoto, N., Fujino, H.et al. (2000). Tetracuspid aortic valve in a patient with 22q11.2 microdeletion. Am. J. Med. Genet., 93, 74–5.Google Scholar

Neirotti, R., Galindez, E., Kreutzer, G.et al. (1978) Tetralogy of Fallot with subpulmonary ventricular septal defect. Ann. Thorac. Surg., 25 (1), 51–6.Google Scholar

Nishibatake, M., Kirby, M. L. & Mierop, L. H. S. (1987) Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation. Circulation, 75 (1), 255–64.Google Scholar

Okita, Y., Miki, S., Ueda, Y.et al. (1995) Early and late results of repair of tetralogy of Fallot with subarterial ventricular septal defect. A comparative evaluation of tetralogy with perimembranous ventricular septal defect. J. Thorac. Cardiovasc. Surg., 110 (1), 180–5.Google Scholar

Oppenheimer-Dekker, A., Gittenberger-de Groot, A. C. & Roozendaal, H. (1982) The ductus arteriosus and associated cardiac anomalies in interruption of the aortic arch. Ped. Cardiol., 2, 185–93.Google Scholar

Patel, R. G., Freedom, R. M., Bloom, K. R.et al. (1978) Truncal or aortic valve stenosis in functionally single arterial trunk. Am. J. Cardiol., 42, 800–9.Google Scholar

Penman Splitt, M., Burn, J. & Goodship, J. (1996) Defects in the determination of left-right asymmetry. J. Med. Genet., 33, 498–503.Google Scholar

Perez Martinez, V. M., Diaz Gongola, G., Calabrò, R.et al. (1975) Tronco arterial comun con interrupcion del istmo aortico. Peculiaridades anatomicas e implicaciones quirurgicas en relacion al tronco arterial comun habitual. Revista Latina de Cardiologia, 6 (4), 291–6.Google Scholar

Pierdominici, M., Marziali, M., Giovanetti, A.et al. (2000) T cell receptor repertoire and function in patients with DiGeorge and velocardiofacial syndromes. Clin. Exp. Immunol., 121, 127–32.Google Scholar

Pierdominici, M., Mazzetta, F., Caprini, E.et al. (2003) Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin. Exp. Immunol., 132, 323–31.Google Scholar

Raatikka, M., Rapola, J., Tuuteri, L.et al. (1981) Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome. Pediatrics, 67 (2), 173–5.Google Scholar

Radford, D. J., Perkins, L., Lachman, R.et al. (1988) Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome. Pediatr. Cardiol., 9 (2), 95–101.Google Scholar

Rajasinghe, H. A., McElhinney, D. B., Reddy, V. M.et al. (1997) Long-term follow-up of truncus arteriosus repaired in infancy: a twenty-year experience. J. Thorac. Cardiovasc. Surg., 113 (5), 869–79.Google Scholar

Raskind, W. J. (1972) Historic aspect of congenital heart disease. Birth Defects: Orig. Article Ser., 8 (1), 2–8.Google Scholar

Raskind, W. J.(1979) Pediatric cardiology: A brief report perspective. Ped. Cardiol., 1, 63–71.Google Scholar

Rauch, A., Hofbeck, M., Leipold, G.et al. (1998) Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am. J. Med. Genet., 78, 322–31.Google Scholar

Rauch, R., Rauch, A., Koch, A.et al. (2002) Cervical origin of the subclavian artery as a specific marker for monosomy 22q11. Am. J. Cardiol., 89, 481–4.Google Scholar

Recto, M. R., Parness, I. A., Gelb, B. D.et al. (1997) Clinical implications and possible association of malposition of the branch pulmonary arteries with DiGeorge syndrome and microdeletion of chromosomal region 22q11. Am. J. Cardiol., 80, 1624–7.Google Scholar

Reddy, V. M., Liddicoat, J. R. & Hanley, F. L. (1995) Midline one-stage complete unifocalization and repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. J. Thorac. Cardiovasc. Surg., 109 (5), 832–45.Google Scholar

Reddy, V. M., Petrossian, E., McElhinney, D. B.et al. (1997) One-stage complete unifocalization in infants: when should the ventricular septal defect be closed? J. Thorac. Cardiovasc. Surg., 113 (5), 858–68.Google Scholar

Rhoden, D. K., Leatherbury, L., Helman, S.et al. (1996) Abnormalities in lymphocyte populationsin infants with neural crest cardiovascular defects. Pediatr. Cardiol., 17, 143–9.Google Scholar

Rubay, J. F., Macartney, F. J. & Anderson, R. H. (1987) A rare variant of common arterial trunk. Br. Heart J., 57 (2), 202–4.Google Scholar

Ryan, A. K., Goodship, J. A., Wilson, D. I.et al. (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet., 34, 798–804.Google Scholar

Sano, S., Brawn, W. J. & Mee, R. B. (1990) Repair of truncus arteriosus and interrupted aortic arch. J. Cardiovasc. Surg., 5 (3), 157–62.Google Scholar

Santoro, G., Marino, B., Di Carlo, D.et al. (1994) Echocardiographically guided repair of tetralogy of Fallot. Am. J. Cardiol., 73, 808–11.Google Scholar

Sarkozy, A., Conti, E., Neri, C.et al. (2005) Spectrum of atrial septal defects associated with mutations of NKK 2.5 and GATA 4 transcription factors. J. Med. Genet., 42, 16–21.Google Scholar

Sawatari, K., Imai, Y., Kurosawa, H.et al. (1989) Staged operation for pulmonary atresia and ventricular septal defect with major aortopulmonary collateral arteries. New technique for complete unifocalization. J. Thorac. Cardiovasc. Surg., 98 (5), 738–50.Google Scholar

Schmidt, K. G., Cassidy, S. C., Silverman, N. H.et al. (1988) Doubly committed subarterial ventricular septal defects: echocardiographic features and surgical implications. J. Am. Coll. Cardiol., 12 (6), 1538–46.Google Scholar

Schott, J. J., Benson, D. W., Basson, C. T.et al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2–5. Science, 281, 108–11.Google Scholar

Schreiber, C., Eicken, A., Balling, G.et al. (2000) Single centre experience on primary correction of common arterial trunk: overall survival and freedom from reoperation after more than 15 years. Eur. J. Cardiothorac. Surg., 18 (1), 68–73.Google Scholar

Sell, J. E., Jonas, R. A., Mayer, J. E.et al. (1998) The results of a surgical program for interrupted aortic arch. J. Thorac. Cardiovasc. Surg., 115 (6), 864–77.Google Scholar

Serraf, A., Lacour-Gayet, F., Robotin, M.et al. (1996) Repair of interrupted aortic arch: a ten-year experience. J. Thorac. Cardiovasc. Surg., 112 (5), 1150–60.Google Scholar

Sett, S. S., Sandor, G. G. S. & Mawson, J. B. (2001) Interrupted right aortic arch and origin of the left pulmonary artery from the aorta in DiGeorge syndrome. Cardiol. Young., 11 (6), 676–9.Google Scholar

Shashi, V., Berry, M. N. & Hines, M. H. (2003) Vasomotor instability in neonates with chromosome 22q11 deletion syndrome. Am. J. Med. Genet., 121, 231–4.Google Scholar

Sim, E. K., Grignani, R. T., Wong, M. L.et al. (1999) Influence of surgery on aortic valve prolapse and aortic regurgitation in doubly committed subarterial ventricular septal defect. Am. J. Cardiol., 84 (12), 1445–8, A8.Google Scholar

Stellin, G., Jonas, R. A., Goh, T. H.et al. (1983) Surgical treatment of absent pulmonary valve syndrome in infants: relief of bronchial obstruction. Ann. Thorac. Surg., 36 (4), 468–75.Google Scholar

Takahashi, K., Kido, S., Hoshino, K.et al. (1995) Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur. J. Pediatr., 154, 878–81.Google Scholar

Tatsuno, K., Konno, S., Ando, M.et al. (1973) Pathogenetic mechanisms of prolapsing aortic valve and aortic regurgitation associated with ventricular septal defect. Anatomical, angiographic, and surgical considerations. Circulation, 48 (5), 1028–37.Google Scholar

Tchervenkov, C. I., Salasidis, G., Cecere, R.et al. (1997) One-stage midline unifocalization and complete repair in infancy versus multiple-stage unifocalization followed by repair for complex heart disease with major aortopulmonary collaterals. J. Thorac. Cardiovasc. Surg., 114 (5), 727–37.Google Scholar

Thompson, L. D., McElhinney, D. B., Reddy, M.et al. (2001) Neonatal repair of truncus arteriosus: continuing improvement in outcomes. Ann. Thorac. Surg., 72 (2), 391–5.Google Scholar

Tohyama, K., Satomi, G. & Momma, K. (1997) Aortic valve prolapse and aortic regurgitation associated with subpulmonic ventricular septal defect. Am. J. Cardiol., 79 (9), 1285–9.Google Scholar

Toscano, A., Anaclerio, S., Digilio, M. C.et al. (2002) Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies. Eur. J. Pediatr., 161, 116–17.Google Scholar

Tworetzky, W., McElhinney, D. B., Brook, M. M.et al. (1999) Echocardiographic diagnosis alone for the complete repair of major congenital heart defects. J. Am. Coll. Cardiol., 33 (1), 228–33.Google Scholar

Vairo, U., Marino, B., Gagliardi, M. G.et al. (1989) Truncus arteriosus con discontinuitá delle arterie polmonari: studio ecocardiografico e angiocardiografico. Cardiovasc. Imag., 1 (3), 44–8.Google Scholar

Mierop, L. H. S. & Kutsche, L. M. (1984) Interruption of the aortic arch and coarctation of the aorta: pathogenetic relations. Am. J. Cardiol., 54, 829–34.Google Scholar

Mierop, L. H. S. & Kutsche, L. M.(1986) Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am. J. Cardiol., 58, 133–7.Google Scholar

Praagh, R. & McNamara, J. J. (1968) Anatomic types of ventricular septal defect with aortic insufficiency. Diagnostic and surgical considerations. Am. Heart J., 75 (5), 604–19.Google Scholar

Praagh, S., Truman, T., Firpo, A., Bano-Rodrigo, A.et al. (1989) Cardiac malformations in trisomy-18: a study of 41 postmortem cases. J. Am. Coll. Cardiol., 13, 1586–97.Google Scholar

Vargas, F. J., Kreutzer, G. O., Pedrini, M.et al. (1986) Tetralogy of Fallot with subarterial ventricular septal defect. Diagnostic and surgical considerations. J. Thorac. Cardiovasc. Surg., 92 (5), 908–12.Google Scholar

Vitelli, F., Morishima, M., Taddei, I.et al. (2002) Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet., 11 (8), 915–22.Google Scholar

Waldo, K., Zdanowicz, M., Burch, J.et al. (1999) A novel role for cardiac neural crest in heart development. J. Clin. Invest., 103, 1499–507.Google Scholar

Wang, J. N., Wu, J. M. & Yang, Y. J. (1999) Double-lumen aortic arch with anomalous left pulmonary artery origin from the main pulmonary artery-bilateral persistent fifth aortic arch – a case report. Int. J. Cardiol., 69, 105–8.Google Scholar

Webber, S. A., Hatchwell, E., Barber, J. C. K.et al. (1996) Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J. Pediatr., 129, 26–32.Google Scholar

Weintraub, R. G., Chow, C. W. & Gow, R. M. (1989) Absence of the leaflets of the aortic valve in DiGeorge syndrome. Int. J. Cardiol., 23, 255–7.Google Scholar

Wilson, D. I., Cross, I. E., Goodship, J. A.et al. (1991) DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br. Heart J., 66, 308–12.Google Scholar

Wilson, D. I., Burn, J., Scambler, P.et al. (1993) DiGeorge syndrome: part of CATCH 22. J. Med. Genet., 30, 852–6.Google Scholar

Yacoub, M. H., Khan, H., Stavri, G.et al. (1997) Anatomic correction of the syndrome of prolapsing right coronary aortic cusp, dilatation of the sinus of Valsalva, and ventricular septal defect. J. Thorac. Cardiovasc. Surg., 113 (2), 253–61.Google Scholar

Yamagishy, H., Maeda, J., Tokumura, M.et al. (2000). Ventricular septal defect associated with microdeletions of chromosome 22q11.2. Clin. Genet., 58, 493–6.Google Scholar

Yates, R. W. M., Raymond, F. L., Cook, A.et al. (1996) Isomerism of the atrial appendages associated with 22q11 deletion in a fetus. Heart, 76, 548–9.Google Scholar

Yeager, S. B. & Sanders, S. P. (1995) Echocardiographic identification of thymic tissue in neonates with congenital heart disease. Am. Heart J., 129, 837–9.Google Scholar

Young, D., Shprintzen, F. R. J. & Golderb, R. B. (1980) Cardiac malformations in the velocardiofacial syndrome. Am. J. Cardiol., 46, 643–8.Google Scholar

Young, D. E. J., Booth, P., Barumi, J.et al. (1999) Chromosome 22q11 microdeletion and congenital heart disease – a survey in a pediatric population. Eur. J. Pediatr., 158, 566–70.Google Scholar

Zhang, G. C., Wang, Z. W., Zhang, R. F.et al. (1997) Surgical repair of patients with tetralogy of Fallot and unilateral absence of pulmonary artery. Ann. Thorac. Surg., 64 (4), 1150–3.Google Scholar

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