Abstract
Epidemiological studies have revealed that nearly 30 % of congenital heart diseases (CHD) are associated with extracardiac anomalies. Understanding of the extracardiac features of these syndromes may assist with correct diagnosis of the cardiac anomalies.
With the advent of human molecular genetics, significant progress has been made in identifying the underlying genetic causes of many syndromic congenital heart diseases. Studies have shown that these syndromic disorders are either caused by chromosomal anomalies or by point mutations, deletions, or insertions in key transcription factors or developmental genes. In this chapter, we will review the molecular genetics of major syndromic cardiovascular diseases including velocardiofacial, Noonan-Leopard, CHAR, Turner, Marfan, Lowy’s-Dietz, and Williams syndromes. Knowledge about genotype-phenotype correlations are evolving and at this point only limited information can be provided.
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Mani, A., Alizadehasl, A. (2014). Syndromic Congenital Heart Diseases. In: Sadeghpour, A., Kyavar, M., Alizadehasl, A. (eds) Comprehensive Approach to Adult Congenital Heart Disease. Springer, London. https://doi.org/10.1007/978-1-4471-6383-1_10
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DOI: https://doi.org/10.1007/978-1-4471-6383-1_10
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