Ventricular Septal Defect 1; Vsd1

Description

Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {3,4:Wang et al., 2011, 2011}).Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2 ), tetralogy of Fallot (see TOF, {187500}), and endocardial cushion defects (AVSD4 ). Genetic Heterogeneity of Ventricular Septal DefectVSD2 (OMIM ) is caused by mutation in the CITED2 gene (OMIM ) on chromosome 6q24; VSD3 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34.Somatic mutations in the HAND1 gene (OMIM ) have been identified in tissue samples from patients with VSD.

Clinical Features

Phenotypes and symptoms related to Ventricular Septal Defect 1; Vsd1

  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology
  • Arrhythmia
  • Abnormal heart morphology
  • Pulmonic stenosis
  • Sudden cardiac death

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Ventricular Septal Defect 1; Vsd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Heterotaxia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

ZIC3, CRELD1, ACVR2B, CITED2, NKX2-5, DNAH11, DNAH5, DNAI1, SHROOM3, LEFTY2, FOXH1, GATA4, GDF1, SMAD2, NODAL
Specificity
7 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, HYMAI, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2, PLAGL1
Specificity
8 %
Genes
100 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2
Specificity
9 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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