Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness

Michael John Ackerman, Mark Wylam, Robert H. Feldt, Co burn J Porter, Gordon Dewald, Paul D Scanlon, David J. Driscoll

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Objective: We and others have observed significant hyperinflation and airflow obstruction after the surgical repair of pulmonary atresia and ventricular septal defect. This study sought to objectively characterize this problem and determine the prevalence of airway hyperresponsiveness in these patients. Methods: We performed a prospective study of children and young adults with pulmonary atresia and ventricular septal defect between June 1996 and December 1998. The participants were stratified into 2 distinct molecular genotypes on the basis of chromosome 22q11.2 microdeletion. A clinical diagnosis of asthma and an objective assessment of airway hyperresponsiveness were determined by means of an asthma inventory scale and methacholine challenge testing, respectively. Thirty-three patients were enrolled. Thirteen had velocardiofacial syndrome, each with chromosome 22q11.2 microdeletion. Results: None of the nonsyndromic patients had evidence for haploinsufficiency. Overall, 66.7% (22/33) met criteria for a clinical diagnosis of airway hyperresponsiveness: 62% (8/13) from the microdeletion genotype and 70% (14/20) from the nonsyndromic group. Conclusions: We have identified an extremely strong association between pulmonary atresia and ventricular septal defect and persistent airway hyperresponsiveness. Haploinsufficiency at chromosome 22q11.2 did not contribute to this predilection for airway hyperresponsiveness. These results provide a basis to anticipate persistent respiratory difficulties after operations in patients with pulmonary atresia and ventricular septal defect. Moreover, this at-risk patient population may yield unique insights into fundamental mechanisms involved in the pathogenesis of airway hyperresponsiveness.

Original languageEnglish (US)
Pages (from-to)169-177
Number of pages9
JournalJournal of Thoracic and Cardiovascular Surgery
Volume122
Issue number1
DOIs
StatePublished - Jul 1 2001

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Pulmonary Atresia
Haploinsufficiency
Chromosomes
Ventricular Heart Septal Defects
Asthma
Genotype
DiGeorge Syndrome
Methacholine Chloride
Young Adult
Pulmonary Atresia With Ventricular Septal Defect
Prospective Studies
Equipment and Supplies

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Surgery

Cite this

Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness. / Ackerman, Michael John; Wylam, Mark; Feldt, Robert H.; Porter, Co burn J; Dewald, Gordon; Scanlon, Paul D; Driscoll, David J.

In: Journal of Thoracic and Cardiovascular Surgery, Vol. 122, No. 1, 01.07.2001, p. 169-177.

Research output: Contribution to journalArticle

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