Journal of the Bahrain Medical Society

Year 2023, Volume 35, Issue 3, Pages 1-6

https://doi.org/10.26715/jbms.35_3_1

Original Article

Pulmonary Valve Atresia in the Kingdom of Bahrain: Early Outcomes and Genetic Associations

Feras A. Majeed Buhusayen1 , Suad R Al Amer2 , Habib Al Tarif3 , Zaid Arakat2 , Neale Nicola Kalis4*

Author Affiliation

1Medical Student, Jordan University of Science and Technology, Jordan

2Pediatric Cardiology, Mohammed Bin Khalifa Bin Salman Al Khalifa Cardiac Center, Bahrain

3Cardiac surgery, Mohammed Bin Khalifa Bin Salman Al Khalifa Cardiac Center, Bahrain

4Mohammed bin Khalifa bin Salman Al-Khalifa Cardiac Center; Bahrain Defense Forces Hospital - Kingdom of Bahrain and #Royal College of Surgeons of Ireland – Medical University of Bahrain (RSCI-MUB).

*Corresponding author:

Prof Neale Nicola Kalis, Mohammed bin Khalifa bin Salman Al-Khalifa Cardiac Center Bahrain Defense Force Hospital, PO Box 28743, Kingdom of Bahrain; Tel: + (973) 17766500/ Fax: (973) 17651112; Email: nnkalis@batelco.com.bh 

Received date: February 09, 2023; Accepted date: June 08, 2023; Published date: September 30, 2023

For tables and figures, please refer to PDF.


Abstract

Background: Pulmonary atresia is a congenital heart defect that results from failure in the formation of the pulmonary valve that leads to right ventricular outflow obstruction, preventing the right heart ejection of blood to the lungs. It is also associated with a high incidence of chromosomal anomalies.

Methods: A retrospective styesyesudy of all infants diagnosed with pulmonary in Bahrain was undertaken. Pulmonary atresia was classified into pulmonary atresia with intact ventricular septum, pulmonary atresia in Tetralogy of Fallot, and pulmonary atresia in complex cyanotic heart defects. Short-term outcomes, survival, and associated genetics were analyzed.

Results: 84 patients were diagnosed. 57 (67.9%) were males and 27 (32.1%) were females (p = 0.204). The median age at diagnosis was 25 days. Patients diagnosed with pulmonary atresia and complex cyanotic heart defects had the highest early survival rate. The early survival rate of patients diagnosed with pulmonary atresia with intact ventricular septum was lowest (p = 0.0179).

Twenty-two patients (26.19%) had chromosomal anomalies. The DiGeorge syndrome was found in 18 patients, and 2 with Down Syndrome and other dysmorphisms in 2. 19 (86.36%) with chromosomal anomalies had pulmonary atresia and Tetralogy of Fallot, and 3(13.64%) with pulmonary atresia and complex cyanotic heart defects (p = 0.027).

Conclusions: Pulmonary atresia is a rare but serious congenital heart defect. The lowest short-term survival is in those with intact intraventricular septum. There is a high incidence of chromosomal deletion of 22q11 leading to DiGeorge syndrome in those with Tetralogy of Fallot with pulmonary atresia. Early catheterization and surgical techniques are effective palliation for short-term survival.

Keywords: Atresia, Genetic, Outcomes, Pulmonary, Valve