DISEASE: Pulmonary atresia with ventricular septal defect
Entry
H01803 Disease
Name
Pulmonary atresia with ventricular septal defect
Description
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare and complex cyanotic congenital heart malformation that has a high incidence of early mortality. PA-VSD presents with complete absence of any communication between the right ventricle and the pulmonary arteries. The blood supply to the pulmonary arteries is provided by a patent arterial duct or by major aorto pulmonary collateral arteries (MAPCAs). Two-thirds of the cases with pulmonary atresia are associated with MAPCAs, which can vary greatly in number and site of origin. PA-VSD shares similarities with tetralogy of Fallot (TOF) and has been considered a severe end of the spectrum of TOF. Although surgical interventions have been employed successfully for a number of years, the long-term prognosis has remained poor with an increased incidence of sudden death. An association between conotruncal cardiac abnormalities and 22q11.2 deletion during fetal life has been investigated and reported to occur in 20% of cases of PA-VSD.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the circulatory system
Structural developmental anomaly of heart or great vessels
LA88 Congenital anomaly of a ventricle or the ventricular septum
H01803 Pulmonary atresia with ventricular septal defect
Fouilloux V, Bonello B, Kammache I, Fraisse A, Mace L, Kreitmann B
Title
Management of patients with pulmonary atresia, ventricular septal defect, hypoplastic pulmonary arteries and major aorto-pulmonary collaterals: Focus on the strategy of rehabilitation of the native pulmonary arteries.
A Rare Case of Pulmonary Atresia with Ventricular Septal Defect with a Right Sided Aortic Arch and a Calcified Pulmonary AVM Presenting in an Adult without Cyanosis.
