Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal

Teratology

Volumn 61, Issue 5, 2000, Pages 329-331

  Digilio, M Cristina ^a   Marino, Bruno ^a   Musolino, Anna Maria ^a   Giannotti, Aldo ^a   Dallapiccola, Bruno ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA ARCH INTERRUPTION; ARTERIAL TRUNK; ARTICLE; ATRIOVENTRICULAR CANAL; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; FAMILIAL DISEASE; FEMALE; HUMAN; INHERITANCE; MALE; MONOGENIC DISORDER; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL;

AORTA, THORACIC; CHROMOSOMES, HUMAN, PAIR 22; FACIES; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENE DELETION; HEART SEPTAL DEFECTS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; TRUNCUS ARTERIOSUS;

EID: 0034021815     PISSN: 00403709     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-9926(200005)61:5<329::AID-TERA3>3.0.CO;2-C     Document Type: Article

References (19)

1. Burn J, Brennan P, Little J, Holloway S, Coffey R, Somerville J, Dennis NR, Allan L, Arnold R, Deanfield JE, Godman M, Houston A, Keeton B, Oakley C, Scott O, Silove E, Wilkinson J, Pembrey M, Hunter AS. 1998. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 351:311-316.
2. Dallapiccola B, Pizzuti A, Novelli G. 1996. How many breaks do we need to CATCH on 22q11? Am J Hum Genet 59:7-11.
3. Debrus S, Berger G, de Meeus A, Sauer U, Guillaumont S, Voisin M, Bozio A, Demczuk S, Aurias A, Bouvagnet P. 1996. Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion. Hum Genet 97:138-144.
4. Digilio MC, Marino B, Giannotti A, Toscano A, Dallapiccola B. 1997. Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. J Med Genet 34:188-190.
5. Digilio MC, Marino B, Banaudi E, Marasini M, Dallapiccola B. 1998. Familial recurrence of transposition of the great arteries. Lancet 351:1661.
6. Ferencz C, Rubin JD, Loffredo CA, Magee CA. 1993. Epidemiology of congenital heart disease. The Baltimore-Washington Infant Study 1981-1989. Mount Kisko, NY: Futura. p 33-62.
7. Gobel JW, Pierpont MEM, Moller JH, Singh A, Edwards JE. 1993. Familial interruption of the aortic arch. Pediatr Cardiol 14:110-115.
8. Le Marec B, Odent S, Almange C, Journel H, Roussey M, Defawe G. 1989. Le truncus arteriosus: une maladie autosomique récessive? J Genet Hum 3:225-230.
9. Lewin MB, Lindsay EA, Idrecic V, Goytia V, Towbin JA, Baldini A. 1997. A genetic etiology for interruption of the aortic arch type B. Am J Cardiol 80:493-497.
10. Marino B, Digilio MC, Persiani M, Di Donato R, Toscano A, Giannotti A, Dallapiccola B. 1999. Deletion 22q11 in patients with interrupted aortic arch. Am J Cardiol 84;360-361.
11. Miller ME, Smith DW. 1979. Conotruncal malformation complex: examples of possible monogenic inheritance. Pediatrics 63:890-892.
12. Momma K, Ando M, Matsuoka R. 1997. Truncus arteriosus communis associated with chromosome 22q11 deletion. J Am Coll Cardiol 30:1067-1071.
13. Nora JJ, Berg K, Nora AH. 1991. Cardiovascular diseases. Genetics, epidemiology and prevention. New York: Oxford University Press. p 53-80.
14. Pankau R, Siekmeyer W, Stoffregen R. 1990. Tetralogy of Fallot in three sibs. Am J Med Genet 37:532-533.
15. Patterson DF, Pexieder T, Schnarr WR, Navratil T, Alaili R. 1993. A single major gene defect underlying cardiac conotruncal malformations intereferes with myocardial growth during embryonic development: studies in the CTD line of Keeshond dogs. Am J Hum Genet 52:388-397.
16. Pierpont MEM, Gobel JW, Moller JH, Edwards JE. 1988. Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch. Am J Cardiol 61:423-427.
17. Rein AJJT, Sheffer R. 1994. Genetics of conotruncal malformations: further evidence of autosomal recessive inheritance. Am J Med Genet 50:302-303.
18. Werner P, Raducha MG, Prociuk U, Budarf M, Henthorn PS, Patterson DF. 1999. Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. J Hered 90:494-498.
19. Wulfsberg EA, Zintz EJ, Moore JW. 1991. The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia. Clin Genet 40:12-16.