Ventricular Septal Defect 2; Vsd2

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 {2,3:Wang et al., 2011, 2011}).For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Ventricular Septal Defect 2; Vsd2

  • Hypertension
  • Ventricular septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology
  • Arrhythmia
  • Abnormal heart morphology
  • Sudden cardiac death
  • Perimembranous ventricular septal defect

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Ventricular Septal Defect 2; Vsd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Heart Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Atrial septal defect type 8.

By Centogene AG - the Rare Disease Company (Germany).

CITED2
Specificity
100 %
Genes
100 %
Ventricular septal defect type 2.

By Centogene AG - the Rare Disease Company (Germany).

CITED2
Specificity
100 %
Genes
100 %
Congenital heart defects panel.

By Centogene AG - the Rare Disease Company (Germany).

TBX1, TBX20, CRELD1, ZFPM2, CFC1, CITED2, NKX2-5, FOXH1, GATA4, GATA6, GDF1, NOTCH1
Specificity
9 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH (Germany).

SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code (Spain).

RIT1, MRPL3, RRAS, RYR1, RYR2, SAR1B, BLK, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SDHA, BMPR1A, BMPR1B, BMPR2, SGCA, SGCB, SGCD , (...)

View the complete list with 351 more genes
Specificity
1 %
Genes
100 %
Congenital heart diseases Panel.

By Health in Code (Spain).

BRAF, SOS1, TBX1, TBX20, TBX5, TFAP2B, TNNI3, MED12, ZIC3, ACTA2, ACTC1, CRELD1, CBL, SHOC2, GATA5, ANKRD1, SALL4, ZFPM2, TAB2, ACVR1 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %

We have 3 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WHITE SPONGE NEVUS 1; WSN1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more