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Ventricular septal defect 1(VSD1)

MedGen UID:
482407
Concept ID:
C3280777
Congenital Abnormality; Disease or Syndrome
Synonym: VSD1
 
Gene (location): GATA4 (8p23.1)
 
Monarch Initiative: MONDO:0013746
OMIM®: 614429

Definition

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 Wang et al., 2011, 2011). Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430). Genetic Heterogeneity of Ventricular Septal Defect VSD2 (614431) is caused by mutation in the CITED2 gene (602937) on chromosome 6q24; VSD3 (614432) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q34. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with VSD. [from OMIM]

Clinical features

From HPO
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).

Professional guidelines

PubMed

Guo B, Xiao J, Li L, Wang S, Wang L, Liu S
Mol Med Rep 2018 May;17(5):7346-7350. Epub 2018 Mar 14 doi: 10.3892/mmr.2018.8742. PMID: 29568912
Tongsong T, Wanapirak C, Piyamongkol W, Sudasana J
J Clin Ultrasound 1999 Sep;27(7):378-84. doi: 10.1002/(sici)1097-0096(199909)27:7<378::aid-jcu4>3.0.co;2-j. PMID: 10440786
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Recent clinical studies

Etiology

Bateman BT, Hernandez-Diaz S, Straub L, Zhu Y, Gray KJ, Desai RJ, Mogun H, Gautam N, Huybrechts KF
BMJ 2021 Feb 10;372:n102. doi: 10.1136/bmj.n102. PMID: 33568363Free PMC Article
İncecik F, Hergüner ÖM, Alınç Erdem S, Altunbaşak Ş
Turk Kardiyol Dern Ars 2015 Dec;43(8):714-6. doi: 10.5543/tkda.2015.27557. PMID: 26717333
Roifman I, Therrien J, Ionescu-Ittu R, Pilote L, Guo L, Kotowycz MA, Martucci G, Marelli AJ
Circulation 2012 Jul 3;126(1):16-21. Epub 2012 Jun 6 doi: 10.1161/CIRCULATIONAHA.111.088294. PMID: 22675158
Backer CL, Russell HM, Kaushal S, Rastatter JC, Rigsby CK, Holinger LD
J Thorac Cardiovasc Surg 2012 Jan;143(1):144-51. Epub 2011 Nov 3 doi: 10.1016/j.jtcvs.2011.09.038. PMID: 22050985
Singhi S, Singhi P, Lall KB
Clin Pediatr (Phila) 1980 Oct;19(10):673-5, 678. doi: 10.1177/000992288001901005. PMID: 7408369

Diagnosis

Li X, Li X, Hu K, Yin C
J Matern Fetal Neonatal Med 2017 Jun;30(11):1366-1371. Epub 2016 Aug 10 doi: 10.1080/14767058.2016.1214126. PMID: 27440228
İncecik F, Hergüner ÖM, Alınç Erdem S, Altunbaşak Ş
Turk Kardiyol Dern Ars 2015 Dec;43(8):714-6. doi: 10.5543/tkda.2015.27557. PMID: 26717333
Roifman I, Therrien J, Ionescu-Ittu R, Pilote L, Guo L, Kotowycz MA, Martucci G, Marelli AJ
Circulation 2012 Jul 3;126(1):16-21. Epub 2012 Jun 6 doi: 10.1161/CIRCULATIONAHA.111.088294. PMID: 22675158
Backer CL, Russell HM, Kaushal S, Rastatter JC, Rigsby CK, Holinger LD
J Thorac Cardiovasc Surg 2012 Jan;143(1):144-51. Epub 2011 Nov 3 doi: 10.1016/j.jtcvs.2011.09.038. PMID: 22050985
Tongsong T, Wanapirak C, Piyamongkol W, Sudasana J
J Clin Ultrasound 1999 Sep;27(7):378-84. doi: 10.1002/(sici)1097-0096(199909)27:7<378::aid-jcu4>3.0.co;2-j. PMID: 10440786

Therapy

Bateman BT, Hernandez-Diaz S, Straub L, Zhu Y, Gray KJ, Desai RJ, Mogun H, Gautam N, Huybrechts KF
BMJ 2021 Feb 10;372:n102. doi: 10.1136/bmj.n102. PMID: 33568363Free PMC Article
Fisher SC, Van Zutphen AR, Werler MM, Lin AE, Romitti PA, Druschel CM, Browne ML; National Birth Defects Prevention Study
Hypertension 2017 May;69(5):798-805. Epub 2017 Apr 3 doi: 10.1161/HYPERTENSIONAHA.116.08773. PMID: 28373593Free PMC Article
Akdeniz C, Ergul Y, Kiplapinar N, Tuzcu V
Cardiol J 2013;20(3):241-6. doi: 10.5603/CJ.2013.0068. PMID: 23788297
Concejero A, Chen CL, Liang CD, Wang CC, Wang SH, Lin CC, Liu YW, Yong CC, Yang CH, Lin TS, Jawan B, Huang TL, Cheng YF, Eng HL
Transplantation 2007 Aug 27;84(4):484-9. doi: 10.1097/01.tp.0000277599.25079.94. PMID: 17713432
Tobias JD, Simsic JM, Weinstein S, Schechter W, Kartha V, Michler R
J Intensive Care Med 2004 Sep-Oct;19(5):270-3. doi: 10.1177/0885066604267783. PMID: 15358945

Prognosis

Li X, Li X, Hu K, Yin C
J Matern Fetal Neonatal Med 2017 Jun;30(11):1366-1371. Epub 2016 Aug 10 doi: 10.1080/14767058.2016.1214126. PMID: 27440228
Roifman I, Therrien J, Ionescu-Ittu R, Pilote L, Guo L, Kotowycz MA, Martucci G, Marelli AJ
Circulation 2012 Jul 3;126(1):16-21. Epub 2012 Jun 6 doi: 10.1161/CIRCULATIONAHA.111.088294. PMID: 22675158
Concejero A, Chen CL, Liang CD, Wang CC, Wang SH, Lin CC, Liu YW, Yong CC, Yang CH, Lin TS, Jawan B, Huang TL, Cheng YF, Eng HL
Transplantation 2007 Aug 27;84(4):484-9. doi: 10.1097/01.tp.0000277599.25079.94. PMID: 17713432
He QC, Wang YQ, Zhong BT, Chen ZL, Guo JG, Ye WW
Tex Heart Inst J 2000;27(4):401-4. PMID: 11198316Free PMC Article
Tongsong T, Wanapirak C, Piyamongkol W, Sudasana J
J Clin Ultrasound 1999 Sep;27(7):378-84. doi: 10.1002/(sici)1097-0096(199909)27:7<378::aid-jcu4>3.0.co;2-j. PMID: 10440786

Clinical prediction guides

Bateman BT, Hernandez-Diaz S, Straub L, Zhu Y, Gray KJ, Desai RJ, Mogun H, Gautam N, Huybrechts KF
BMJ 2021 Feb 10;372:n102. doi: 10.1136/bmj.n102. PMID: 33568363Free PMC Article
Fisher SC, Van Zutphen AR, Werler MM, Lin AE, Romitti PA, Druschel CM, Browne ML; National Birth Defects Prevention Study
Hypertension 2017 May;69(5):798-805. Epub 2017 Apr 3 doi: 10.1161/HYPERTENSIONAHA.116.08773. PMID: 28373593Free PMC Article
Li X, Li X, Hu K, Yin C
J Matern Fetal Neonatal Med 2017 Jun;30(11):1366-1371. Epub 2016 Aug 10 doi: 10.1080/14767058.2016.1214126. PMID: 27440228
Roifman I, Therrien J, Ionescu-Ittu R, Pilote L, Guo L, Kotowycz MA, Martucci G, Marelli AJ
Circulation 2012 Jul 3;126(1):16-21. Epub 2012 Jun 6 doi: 10.1161/CIRCULATIONAHA.111.088294. PMID: 22675158
Concejero A, Chen CL, Liang CD, Wang CC, Wang SH, Lin CC, Liu YW, Yong CC, Yang CH, Lin TS, Jawan B, Huang TL, Cheng YF, Eng HL
Transplantation 2007 Aug 27;84(4):484-9. doi: 10.1097/01.tp.0000277599.25079.94. PMID: 17713432

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