Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion.
Clin Genet
; 62(3): 214-9, 2002 Sep.
Article
en En
| MEDLINE
| ID: mdl-12220436
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.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Circulación Colateral
/
Atresia Pulmonar
/
Obstrucción de las Vías Aéreas
/
Defectos del Tabique Interventricular
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
Clin Genet
Año:
2002
Tipo del documento:
Article
País de afiliación:
Japón