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Interrupted aortic arch: an epidemiologic study.

C A Loffredo1, C Ferencz, P D Wilson

  • 1Department of Epidemiology and Preventive Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA. cloffredo@som.umaryland.edu

Teratology
|April 25, 2000
PubMed
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Interruption of the aortic arch (IAA) is a complex congenital heart defect. This study identified distinct risk factors for IAA type B, particularly those associated with DiGeorge syndrome (DGS).

Area of Science:

  • Cardiovascular medicine
  • Pediatric cardiology
  • Medical genetics

Background:

  • Interruption of the aortic arch (IAA) is a rare congenital anomaly often associated with intracardiac and multisystem noncardiac malformations.
  • IAA has been linked to chromosome deletion of 22q11.2, a genetic cause for DiGeorge syndrome (DGS).
  • Understanding the heterogeneity of IAA and its associated risk factors is crucial for diagnosis and management.

Purpose of the Study:

  • To investigate the risk factors associated with different anatomic subtypes of Interruption of the aortic arch (IAA).
  • To explore potential differences in risk factors between IAA cases with and without DiGeorge syndrome (DGS).
  • To confirm the heterogeneity of IAA, particularly the type B subtype.

Main Methods:

Related Experiment Videos

  • A population-based epidemiologic study, the Baltimore-Washington Infant Study (1981-1989), evaluated 53 infants with IAA.
  • Infants with IAA were compared to 3,572 controls.
  • Risk factors were analyzed for IAA type A (14 cases) and IAA type B (32 cases), with a focus on factors associated with DGS in type B.

    • Main Results:

    • DiGeorge syndrome (DGS) was more frequent in Interruption of the aortic arch (IAA) type B.
    • Infants with IAA, regardless of type, exhibited growth retardation at birth.
    • Specific risk factors were identified for IAA type B cases with DGS (family history of noncardiac defects, maternal aspirin use) and without DGS (previous stillbirth, bleeding during pregnancy, maternal exposure to paints).

    Conclusions:

    • The findings confirm the significant heterogeneity within Interruption of the aortic arch (IAA), especially in type B.
    • Distinct risk factors associated with DiGeorge syndrome (DGS) in IAA type B cases suggest different etiological pathways.
    • Further research into these specific risk factors may elucidate the etiology and associated molecular genetic abnormalities of IAA.