Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion

Hiroyuki Yamagishi, Jun Maeda, M. Higuchi, Y. Katada, C. Yamagishi, N. Matsuo, Y. Kojima

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Respiratory distress is one of the major complications in young infants with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries (PA-VSD-MAPCA); however, its aetiology remains obscure. We have previously reported an association of bronchomalacia with PA-VSD-MAPCA in patients with a hemizygous deletion of chromosome 22q11.2 (del.22q11). To clarify the clinical relevance of bronchomalacia in patients with PA-VSD-MAPCA and del.22q11, we reviewed the clinical and laboratory records of four patients with PA-VSD-MAPCA who had del.22q11 and bronchomalacia. External bronchial compression by anomalous patterning of the aorta and MAPCA was documented in three of the four patients, using combinatorial examination of angiocardiography, bronchography, fibreoptic bronchoscopy and magnetic resonance imaging. One of the four patients died suddenly of severe respiratory distress at 4 years of age, while the remaining three were inoperable for complete surgical repair. Our study indicates that bronchomalacia as a result of external vascular compression may be an aetiology of early-onset respiratory distress in some patients with PA-VSD-MAPCA and del.22q11, and can significantly affect the clinical outcome.

Original languageEnglish
Pages (from-to)214-219
Number of pages6
JournalClinical Genetics
Volume62
Issue number3
DOIs
Publication statusPublished - 2002 Sep 1

Fingerprint

Bronchomalacia
Chromosome Deletion
Arteries
Bronchography
Angiocardiography
Bronchoscopy
Blood Vessels
Aorta
Pulmonary Atresia With Ventricular Septal Defect
Magnetic Resonance Imaging

Keywords

  • Bronchomalacia
  • Chromosome 22q11.2 deletion
  • Congenital heart disease
  • Major aortopulmonary collateral arteries
  • Respiratory distress

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. / Yamagishi, Hiroyuki; Maeda, Jun; Higuchi, M.; Katada, Y.; Yamagishi, C.; Matsuo, N.; Kojima, Y.

In: Clinical Genetics, Vol. 62, No. 3, 01.09.2002, p. 214-219.

Research output: Contribution to journalArticle

Yamagishi, Hiroyuki ; Maeda, Jun ; Higuchi, M. ; Katada, Y. ; Yamagishi, C. ; Matsuo, N. ; Kojima, Y. / Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. In: Clinical Genetics. 2002 ; Vol. 62, No. 3. pp. 214-219.
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