H01803 | |
H number | H01803 |
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 |
Network | - |
Gene | - |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Alprostadil [DR:D00180] |
Comment | See also H01525 22q11.2 deletion syndrome, and H00549 Tetralogy of Fallot. |
Other DBs | ICD-11: LA88.2 ICD-10: Q21.3 MeSH: D018633 OMIM: 178370 |
Reference | PMID:28231853 AUTHORS Fan C, Yang Y, Xiong L, Yin N, Wu Q, Tang M, Yang J TITLE Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect. JOURNAL J Cardiothorac Surg 12:12 (2017) DOI:10.1186/s13019-017-0578-4 PMID:23199622 AUTHORS 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. JOURNAL Arch Cardiovasc Dis 105:666-75 (2012) DOI:10.1016/j.acvd.2012.08.003 PMID:16547205 AUTHORS Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland GK TITLE Prenatally diagnosed pulmonary atresia with ventricular septal defect: echocardiography, genetics, associated anomalies and outcome. JOURNAL Heart 92:1501-5 (2006) DOI:10.1136/hrt.2005.083295 PMID:21234191 AUTHORS Murthy K, Reddy KP, Nagarajan R, Goutami V, Cherian K TITLE Management of ventricular septal defect with pulmonary atresia and major aorto pulmonary collateral arteries: Challenges and controversies. JOURNAL Ann Pediatr Cardiol 3:127-35 (2010) DOI:10.4103/0974-2069.74040 PMID:25580345 AUTHORS Kulkarni DV, Hegde RG, Balani A, Joshi AR TITLE 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. JOURNAL Case Rep Radiol 2014:614647 (2014) DOI:10.1155/2014/614647 |