Abstract
Congenital heart disease (CHD) encompasses a wide range of structural defects of the heart and, in many cases, the factors that predispose an individual to disease are not well understood, highlighting the remarkable complexity of CHD etiology. Evidence of familial aggregation of CHD has been demonstrated in different communities and for different cardiac lesions. Consanguinity, particularly among first cousins, is an added risk factor for these families, particularly in societies where it is considered a common cultural practice, as confirmed in previous studies conducted in Saudi Arabia and other countries. Through comprehensive genetic testing of affected families, we have been able to better understand the genetic basis of the various cardiac lesions and to delineate the molecular mechanisms involved in cardiac morphogenesis. In this review, we discuss the epidemiology and genetics of CHD in consanguineous populations focusing on Saudi Arabia as an extensive study model to address current advances and challenges in the clinical genetic diagnosis and prevention of CHD.
Highlights
Despite rising awareness, congenital heart disease (CHD) is still a major cause of significant morbidity and mortality
Progressing further, another review by Alkuraya provided the impact of modern genomic tools, e.g., homozygosity mapping, next-generation sequencing, and molecular karyotyping, in mapping the consanguineous inheritance in Saudi populations, concluding with a remark addressing the issue of highly consanguineous populations
Parental consanguinity has been well proven to play a significant role in the prevalence of congenital heart disease in the Saudi population [19,20]
Summary
Congenital heart disease (CHD) is still a major cause of significant morbidity and mortality It is clinically defined as a group of structural malformations present at birth and characterized by abnormal development of the heart and may be induced by environmental influence, altered gene function, or stochastic factors [1,2]. In. Saudi Arabia, epidemiological reports have estimated that first-cousin marriages among families of children with CHD (41.6%) were significantly higher than the general population (28.4%) [7]. Progressing further, another review by Alkuraya provided the impact of modern genomic tools, e.g., homozygosity mapping, next-generation sequencing, and molecular karyotyping, in mapping the consanguineous inheritance in Saudi populations, concluding with a remark addressing the issue of highly consanguineous populations.
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