title: Molecular insight into heart development and congenital heart disease: An update review from the Arab countries.
abstract: Congenital heart defect (CHD) has a major influence on affected individuals as well as on the supportive and associated environment such as the immediate family. Unfortunately, CHD is common worldwide with an incidence of approximately 1% and consequently is a major health concern. The Arab population has a high rate of consanguinity, fertility, birth, and annual population growth, in addition to a high incidence of diabetes mellitus and obesity. All these factors may lead to a higher incidence and prevalence of CHD within the Arab population than in the rest of the world, making CHD of even greater concern. Sadly, most Arab countries lack appropriate public health measures directed toward the control and prevention of congenital malformations and so the importance of CHD within the population remains unknown but is thought to be high. In approximately 85% of CHD patients, the multifactorial theory is considered as the pathologic basis. The genetic risk factors for CHD can be attributed to large chromosomal aberrations, copy number variations (CNV) of particular regions in the chromosome, and gene mutations in specific nuclear transcription pathways and in the genes that are involved in cardiac structure and development. The application of modern molecular biology techniques such as high-throughput nucleotide sequencing and chromosomal array and methylation array all have the potential to reveal more genetic defects linked to CHD. Exploring the genetic defects in CHD pathology will improve our knowledge and understanding about the diverse pathways involved and also about the progression of this disease. Ultimately, this will link to more efficient genetic diagnosis and development of novel preventive therapeutic strategies, as well as gene-targeted clinical management. This review summarizes our current understanding of the molecular basis of normal heart development and the pathophysiology of a wide range of CHD. The risk factors that might account for the high prevalence of CHD within the Arab population and the measures required to be undertaken for conducting research into CHD in Arab countries will also be discussed.
authors.affiliation: Department of Pediatrics, United Arab Emirates University, Al-Ain, UAE.
authors.forename: Elhadi H
authors.initials: EH
authors.lastname: Aburawi
authors.affiliation: Department of Biology, Faculty of Sciences, United Arab Emirates University, Al-Ain, UAE.
authors.forename: Hanan E
authors.initials: HE
authors.lastname: Aburawi
authors.affiliation: Department of Anatomy, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, UAE.
authors.forename: Keith M
authors.initials: KM
authors.lastname: Bagnall
authors.affiliation: Laboratoire de Diagnostic Moléculaire, Service de Génétique Médicale, BH19_512, Centre Hospitalier Universitaire Vaudois (CHUV), Rue du Bugnon 46, Lausanne CH-1011, Switzerland. Electronic address: Z.A.Bhuiyan@chuv.ch.
authors.forename: Zahurul A
authors.initials: ZA
authors.lastname: Bhuiyan
mesh_terms: D004314:Down Syndrome / Q000453:epidemiology / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D015994:Incidence; D009154:Mutation; D015995:Prevalence; D018570:Risk Assessment; D012307:Risk Factors; D014479:United Arab Emirates / Q000453:epidemiology
chemical_list: D005819:Genetic Markers