Albesher Nour, Massadeh Salam, Hassan Sabah M, Alaamery Manal
KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 12354, Saudi Arabia.
Department of Biological Sciences, Faculty of Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Genes (Basel). 2022 Feb 16;13(2):354. doi: 10.3390/genes13020354.
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.
先天性心脏病（CHD）涵盖了广泛的心脏结构缺陷，而且在许多情况下，导致个体患该病的因素尚未完全明确，这凸显了CHD病因的显著复杂性。不同社区以及不同心脏病变中均已证实存在CHD家族聚集现象。近亲结婚，尤其是表亲之间的婚姻，是这些家族的一个额外风险因素，在那些将其视为常见文化习俗的社会中更是如此，正如先前在沙特阿拉伯和其他国家进行的研究所证实的那样。通过对受影响家庭进行全面的基因检测，我们得以更好地理解各种心脏病变的遗传基础，并阐明心脏形态发生过程中涉及的分子机制。在这篇综述中，我们将讨论近亲婚配人群中CHD的流行病学和遗传学，重点以沙特阿拉伯作为一个广泛的研究模型，来探讨CHD临床基因诊断和预防方面的当前进展与挑战。
