Advertisement

Pediatric Cardiology

, Volume 14, Issue 2, pp 110–115 | Cite as

Familial interruption of the aortic arch

  • Jennifer W. Gobel
  • Mary Ella M. Pierpont
  • James H. Moller
  • Amarjit Singh
  • Jesse E. Edwards
Case Reports

Summary

Interruption of the aortic arch (IAA) is an important congenital cardiac malformation occurring in 1.4% of cases with a congenital cardiac malformation. Only two reports have described IAA in siblings, each with type B and an anomalous right subclavian artery. We report the occurrence of IAA type B with an anomalous right subclavian artery in two siblings and their half-sibling, each of whom had additional conotruncal cardiac malformations. Recent evidence suggests that conotruncal cardiac malformations, including IAA type B, are related to abnormalities of neural crest cell migration. Thus, the family reported herein may manifest a syndrome related to alterations in mesenchymal tissue/neural crest cell migration.

Key Words

Interruption of the aortic arch Conotruncal malformations Familial cardiac anomaly 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Anderson RC (1976) Fetal and infant death, twinning and cardiac malformations in families of 2,000 children with and 500 without cardiac defects.Am J Cardiol 38:218–224Google Scholar
  2. 2.
    Ardinger HH, Clark EB, Hansen JW (1984) Cardiovascular anomalies in craniofacial disorders: Pathogenetics and epidemiologic considerations.Proc Greenwood Genet Cen 4:81–82Google Scholar
  3. 3.
    Becu LM, Tauxe WN, DuShane JW, Edwards JE (1955) A complex of congenital cardiac anomalies: Ventricular septal defect, biventricular origin of the pulmonary trunk and subaortic stenosis.Am Heart J 50:901–911Google Scholar
  4. 4.
    Besson WT, Kirby ML, Van Mierop LHS, Teabeaut JR (1986) Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects.Circulation 73:360–364Google Scholar
  5. 5.
    Buch J, Wennevold A, Efsen F, Andersen GE (1980) Interrupted aortic arch in two siblings.Acta Pediatr Scand 69:783–785Google Scholar
  6. 6.
    Clark EB (1987) Mechanisms in the pathogenesis of congenital heart defects. In: Pierpont ME, Moller JH (eds)The genetics of cardiovascular disease, Martinus-Nijhoff, Boston, pp 3–12Google Scholar
  7. 7.
    de la Chapelle A, Herva R, Koivisto M, Aula P (1981) A deletion in chromosome 22 can cause DiGeorge syndrome.Hum Genet 57:253–256Google Scholar
  8. 8.
    Freedom RM, Rosen FS, Nadas AS (1972) Congenital cardiovascular disease and anomalies of the third and fourth pharyngeal pouch.Circulation 46:165–172Google Scholar
  9. 9.
    Gidding SS, Minciotti AL, Langman CB (1988) Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate.N Engl J Med 319:1589–1591Google Scholar
  10. 10.
    Greenberg F, Courtney KB, Wessels RA, Huhta J, Carpenter RJ, Rich C, Ledbetter DH (1988) Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly.Am J Med Genet 31:1–4Google Scholar
  11. 11.
    Kawashima H, Ohno I, Ueno Y, Nakaya S, Kato E, Taniguchi N (1987) Syndrome of microtia and aortic arch anomalies resembling isotretinoin embryopathy.J Pediatr 111:738–740Google Scholar
  12. 12.
    Kaschenko N (1988) Zur entwicklungsgeschichte der Selachierembrya.Anat Anz 3:445–567Google Scholar
  13. 13.
    Kinouchi A (1980) A study of facial features associated with conotruncal anomalies of the heart.J Tokyo Wom Med Coll 50:396–409Google Scholar
  14. 14.
    Kinouchi A, Mori K, Ando M (1976) Facial appearance of patients with conotruncal anomalies.Pediatr Jpn 17:84Google Scholar
  15. 15.
    Kirby ML, Bockman AE (1984) Neural crest and normal development: A new perspective.Anat Rec 209:1–6Google Scholar
  16. 16.
    Kirby ML, Gale TT, Stewart DE (1983) Neural crest cells contribute to normal aorticopulmonary septation.Science 200:1059–1061Google Scholar
  17. 17.
    Kirby ML, Turnage KL, Hay BM (1985) Characterization of conotruncal malformations following ablation of “cardiac” neural crest.Anat Rec 213:87–93Google Scholar
  18. 18.
    Lammer EJ, Chen DT, Hoar R, Curry C, Benke PJ, Tenhoff PM, Grix A, Sun S, Braun JT, Lott I, Richard J, Agnish HD (1985) Retinoic acid embryopathy: A new human teratogen.N Engl J Med 313:837–841Google Scholar
  19. 19.
    Lammer EJ, Opitz JM (1986) The DiGeorge anomaly as a developmental field defect.Am J Med Genet Suppl II:113–127Google Scholar
  20. 20.
    LeLievre CS, LeDouarin NM (1975) Mesenchymal derivatives of neural crest: Analysis of chimaeric quail and chick embryos.Embryol Exp Morphol 34:125–154Google Scholar
  21. 21.
    Levin DL, Muster AJ, Newfeld EA, Paul MH (1973) Concordant aortic arch anomalies in monozygotic twins.J Perdiatr 83:459–461Google Scholar
  22. 22.
    Mascarello JT, Bastian JF, Jones MC (1989) Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence.Am J Med Genet 32:112–114Google Scholar
  23. 23.
    Miller ME, Smith DW (1979) Conotruncal malformation complex: Example of possible monogenic inheritance.Pediatrics 63:890–893Google Scholar
  24. 24.
    Moore GW, Hutchins GM (1978) Association of interrupted aortic arch with malformations producing reduced blood flow to the fourth aortic arches.Am J Cardiol 42:467–472Google Scholar
  25. 25.
    Muller W, Peter HH, Wilken M, Juppner H, Kallfelz HC, Krohn HP, Miller K, Kieger CHL (1988) The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome.Eur J Pediatr 147:496–502Google Scholar
  26. 26.
    Neufeld HN, Ongley PA, Swan HJC, Burgert CO, Edwards JE (1961) Biventricular origin of the pulmonary trunk with subaortic stenosis above the ventricular septal defect.Am Heart J 61:190–198Google Scholar
  27. 27.
    Nora JJ, Nora AH (1988) Update on counseling the family with a first-degree relative with a congenital heart defect.Am J Med Genet 29:137–142Google Scholar
  28. 28.
    Nora JJ, Nora AH (1987) Maternal transmission of congenital heart disease: New recurrence risk figures and the quentions of cytoplasmic inheritance and vulnerability to teratogens.Am J Cardiol 59:459–463Google Scholar
  29. 29.
    Pexieder T (1987) Teratogens. In: Pierpont ME, Moller JH (eds)The genetics of cardiovascular disease. Martinus-Nijhoff, Boston, pp. 29–31Google Scholar
  30. 30.
    Pierpont MEM, Moller JH, Gorlin RJ, Edwards JE (1982) Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia.Pediatr Cardiol 2:297–302Google Scholar
  31. 31.
    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 61:423–427Google Scholar
  32. 32.
    Platt JB (1893) Ecotdermic origin of the cartilages of the heart.Anat Anz 8:506–509Google Scholar
  33. 33.
    Rothko K, Moore GW, Hutchins GM (1980) Truncus arteriosus malformation: A spectrum including fourth and sixth aortic arch interruptions.Am Heart J 99:17–24Google Scholar
  34. 34.
    Rothman KJ, Fyler DC, Goldblatt A, Kreidberg MB (1979) Exogenous hormones and other drug exposures of children with congenital heart disease.Am J Epidemiol 109:433–439Google Scholar
  35. 35.
    Takao A, Ando M, Cho K, Kinouchi A, Murakami Y (1980) Etiologic categorization of common congenital heart disease. In: Van Praagh R, Takao A (eds)Etiology and morphogenesis of congenital heart disease Futura, Mt. Kisco, New York, pp 253–269Google Scholar
  36. 36.
    Van Mierop LHS, Kutsche LM (1986) Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor.Am J Cardiol 58:133–137Google Scholar
  37. 37.
    Van Mierop LHS, Kutsche LM (1984) Interruption of the aortic arch and coarctation of the aorta: Pathogenetic relations.Am J Cardiol 54:829–834Google Scholar
  38. 38.
    Van Praagh R, Bernhard WF, Rosenthal A, Parisi LF, Fyler DC (1971) Interrupted aortic arch: Surgical treatment.Am J Cardiol 27:200–211Google Scholar
  39. 39.
    Weston JA (1970) The migration and differentiation of neural crest cells.Adv Morphol 8:41–114Google Scholar
  40. 40.
    Zierler S, Rothman KJ (1985) Congenital heart disease in relation to maternal use of Bendectin and other drugs in early pregnancy.N Engl J Med 313:347–352Google Scholar

Copyright information

© Springer-Verlag New York Inc. 1993

Authors and Affiliations

  • Jennifer W. Gobel
    • 1
  • Mary Ella M. Pierpont
    • 1
  • James H. Moller
    • 1
  • Amarjit Singh
    • 2
  • Jesse E. Edwards
    • 3
  1. 1.Departments of Pediatrics and Pathology, The Ray and Hattie Anderson Center for the Study of Hereditary Cardiac DiseaseVariety Club Children's Hospital, University of MinnesotaMinneapolisUSA
  2. 2.the Minneapolis Children's Medical CenterMinneapolisUSA
  3. 3.the Jesse E. Edwards Registry of Cardiovascular DiseaseUnited HospitalSt. PaulUSA

Personalised recommendations