The trends and patterns of congenital heart diseases at Madinah Cardiac Center, Madinah, Saudi Arabia

Abstract

Objectives: To characterize the pattern of congenital heart diseases (CHDs) in Madinah, Saudi Arabia. Methods: We retrospectively collected and analyzed the demographic and diagnostic details of all patients with CHDs referred at Madinah Cardiac Center (MCC) over a period of 3 years from January 2017 to December 2019. Results: During the study period, 1,127 patients with CHDs were identified. The male to female ratio was 1.1:1, with a mean age of 8.4±2.4 years. The acyanotic CHDs were the predominant lesions, accounting for 84.8% of all cases, while the cyanotic types accounted for 13%. Patent ductus arteriosus (PDA), ventricular Original Article septal defects (VSD), atrial septal defects (ASD), coarctation of the aorta (CoA), and atrioventricular septal defect (AVSD) were the most common acyanotic CHDs and represented 27.9%, 24.8%, 18.9%, 6.4%, and 4.4% of the total cases, respectively. Tetralogy of Fallot (ToF) (8.7%), followed by transposition of the great arteries (TGA) (1.7%) and truncus arteriosus (1.1%), were the most common cyanotic CHDs. There was a male predominance of VSD, ToF, CoA, TGA, and truncus arteriosus. In contrast, PDA, ASD, and AVSD were more common in females. Conclusion: The pattern of CHDs observed in our study and age at which the diagnosis of CHDs was made were different from the other national and international studies, which points to a diagnostic issue along with problems of awareness on the part of the general population.

Ambient air pollutants in the first trimester of pregnancy and birth defects: an observational study

“…In line with this study, the epidemiological difference in CHD S between male and female fetuses has been reported previously 40 41. This disparity could be explained by the sex chromosome-linked genes expression and their interactions with hormonal effects during early development 42.…”

Consanguinity and Congenital Heart Disease Susceptibility: Insights into Rare Genetic Variations in Saudi Arabia

“…Shaheen et al applied exome sequencing to three consanguineous families diagnosed with Truncus Arteriosus. In one of the patients suffering from syndromic CHD, a mutation was identified in the NRP1 gene which is predicted to result in premature truncation of the protein [ 42 ]. Moreover, Monies et al explored the Saudi population genetic landscape for suspected Mendelian disorders using next generation sequencing methods on 1000 families spanning a wide range of suspected Mendelian phenotypes.…”

“…Second, conversely, non-syndromic CHD is significantly enriched for inherited PTVs in CHD-associated genes [ 46 ]. Mapping specific cardiac defects to regions of autozygosity in consanguineous families enabled Shaheen et al to discover a homozygous PTV in PRKD1 in a Saudi family with non-syndromic CHD [ 42 ]. PRKD1 is listed in OMIM only as a CHD-associated gene in the context of de novo heterozygous mutation resulting in ectodermal dysplasia with CHD.…”

“…However, recent studies [ 9 , 47 ] not only provided confirmation that PRKD1 is indeed associated with recessive, non-syndromic truncus arteriosus, but also expanded the CHD phenotype associated with this gene. There are several additional novel genes that have been identified in the Saudi population associated to isolated forms of CHD, including PRDM1 and ADAMTS19 [ 42 , 48 ].…”

Heart Murmur Detection Using Wavelet Time Scattering and Support Vector Machines

“…Early detection is particularly important since increased morbidity and mortality are associated with delayed diagnosis of congenital heart disease (CHD) in children [1,2]. Consequently, insufficient clinical resources in these developing countries which lead to missed and/or delayed diagnoses have resulted in a significant public health concern [3][4][5].…”