Human genetics of ventricular septal defect

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Item Type:	Book Section
Title:	Human genetics of ventricular septal defect
Creators Name:	Bellmann, K., Perrot, A. and Rickert-Sperling, S.
Abstract:	Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40 % of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in individual patients and families. The genetic etiology of VSD is complex and extraordinarily heterogenous. Chromosomal abnormalities such as aneuploidy and structural variations as well as rare point mutations in various genes have been reported to be associated with this cardiac defect. This includes both well-defined syndromes with known genetic cause (e.g., DiGeorge syndrome and Holt–Oram syndrome) and so far undefined syndromic forms characterized by unspecific symptoms. Mutations in genes encoding cardiac transcription factors (e.g., NKX2-5 and GATA4) and signaling molecules (e.g., CFC1) have been most frequently found in VSD cases. Moreover, new high-resolution methods such as comparative genomic hybridization enabled the discovery of a high number of different copy number variations, leading to gain or loss of chromosomal regions often containing multiple genes, in patients with VSD. In this chapter, we will describe the broad genetic heterogeneity observed in VSD patients considering recent advances in this field.
Keywords:	Ventricular Septal Defect, VSD, Atrial Septal Defect, ASD, Ventricular Septum, Down Syndrome, Trisomy 21, Patau Syndrome, Trisomy 13, Edwards Syndrome, Trisomy 18, Pallister-Killian Syndrome, 22q11 Deletion Syndrome, DiGeorge Syndrome, Velocardiofacial Syndrome, Wolf-Hirschhorn Syndrome, Cri-Du-Chat Syndrome, Sotos Syndrome, Williams–Beuren Syndrome, Kleefstra Syndrome, Jacobsen Syndrome, Potocki-Lupski Syndrome, Copy Number Variation, CNV, TBX1, CRKL, PRKAB2, FMO5, CHD1, BCL9, ACP6, GJA5, GATA4, SOX7, NTRK3, TBX5, Holt-Oram Syndrome, TBX3, Ulnar-Mammary Syndrome, Townes-Brock Syndrome, SALL1, Okihiro Syndrome, SALL4, Char Syndrome, TFAP2B, Oculofaciocardiodental Syndrome, BCOR, Ellis-van Creveld Syndrome, EVC1, EVC2, Blepharophimosis Syndrome, FOXL2, GATA6, Diaphragmatic Hernia, Mowat-Wilson Syndrome, ZFHX1B, Pelger-Huet Anomaly, LBR, Alagille Syndrome, NOTCH1, NOTCH2, JAG1, Adams-Oliver Syndrome, Ras/MAPK, Noonan Syndrome, PTPN11, Noonan-Like Syndrome, SHOC2, Costello Syndrome, HRAS, Robinow Syndrome, WNT5A, DVL1, ROR2, Muenke syndrome, FGFR3, Cornelia de Lange Syndrome, NIPBL, Opitz Syndrome, MID1, CHARGE Syndrome, CHD7, Sotos Syndrome, NSD1, Kabuki Syndrome, MLL2, Frank-ter Haar Syndrome, SH3PXD2B, Simpson-Golabi-Behmel Syndrome, GPC3, Marfan Syndrome, Hypophosphatemia, FBN1, Peters Plus Syndrome, B3GALTL, Larsen-Like Syndrome, NKX2-5, NKX2-6, TBX20, ZIC3, IRX4, CITED2, PITX2, TGF{beta}, CRYPTIC, CFC1, GDF3, Nodal, NF1, MYH7, Noncompaction, LVNC, TNNI3, MKRN2, HAS2, GWAS, TBX15, MAML3, TDGF1
Source:	Congenital Heart Diseases: The Broken Heart
Title of Book:	Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways
ISBN:	978-3-7091-1882-5
Publisher:	Springer
Page Range:	307-328
Date:	2016
Official Publication:	https://doi.org/10.1007/978-3-7091-1883-2_23

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