KEGG   DISEASE: Ventricular septal defectHelp
Entry
H01926                      Disease                                

Name
Ventricular septal defect
Description
Ventricular septal defect (VSD) is the most common type of cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital heart disease (CHD) is divided into more than 30 subtypes based on the cardiac or vascular abnormalities, of which VSD, atrial septal defect (ASD) [DS:H00546], tetralogy of Fallot (TOF) [DS:H00549], and Holt-Oram syndrome (HOS) [DS:H00433] are clinically the most common. VSDs can exist in isolation, can be complicated by additional intracardiac lesions, or can be part of more complex combinations, such as TOF, double outlet right ventricle [DS:H00918], or functionally univentricular hearts [DS:H01787]. Congenital VSDs arise from perturbations of cardiac development during embryogenesis and both environmental and genetic risk factors have been implicated in VSDs. Growing evidence highlights the key role of several transcription factors, including GATA4, in septogenesis.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H01926  Ventricular septal defect
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    Structural developmental anomaly of heart and great vessels
     LA88  Congenital anomaly of a ventricle or the ventricular septum
      H01926  Ventricular septal defect
BRITE hierarchy
Gene
(VSD1) GATA4 [HSA:2626] [KO:K09183]
(VSD2) CITED2 [HSA:10370] [KO:K21361]
(VSD3) NKX2-5 [HSA:1482] [KO:K09345]
Env factor
environmental teratogens
maternal smoking
maternal exposure to isotretinoin, thalidomide, or anti-seizure medications
Other DBs
ICD-11: LA88.4
ICD-10: Q21.0
MeSH: D006345
OMIM: 614429 614431 614432
Reference
  Authors
Wang J, Fang M, Liu XY, Xin YF, Liu ZM, Chen XZ, Wang XZ, Fang WY, Liu X, Yang YQ
  Title
A novel GATA4 mutation responsible for congenital ventricular septal defects.
  Journal
Int J Mol Med 28:557-64 (2011)
DOI:10.3892/ijmm.2011.715
Reference
  Authors
Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ
  Title
Ventricular septal defect.
  Journal
Orphanet J Rare Dis 9:144 (2014)
DOI:10.1186/s13023-014-0144-2
Reference
  Authors
Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, Mei L, Tang J, Kumar M, Wang X, Su L, Dong N
  Title
Congenital heart diseases and their association with the variant distribution features on susceptibility genes.
  Journal
Clin Genet 91:349-354 (2017)
DOI:10.1111/cge.12835
Reference
  Authors
Peng T, Wang L, Zhou SF, Li X
  Title
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
  Journal
Genetica 138:1231-40 (2010)
DOI:10.1007/s10709-010-9522-4
Reference
  Authors
Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S
  Title
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.
  Journal
Hum Mutat 26:575-82 (2005)
DOI:10.1002/humu.20262
Reference
  Authors
Chen Y, Mao J, Sun Y, Zhang Q, Cheng HB, Yan WH, Choy KW, Li H
  Title
A novel mutation of GATA4 in a familial atrial septal defect.
  Journal
Clin Chim Acta 411:1741-5 (2010)
DOI:10.1016/j.cca.2010.07.021

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