Ventricular septal defect

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editors-In-Chief: Priyamvada Singh, MBBS [2]; Cafer Zorkun, M.D., Ph.D. [3];Kalsang Dolma, M.B.B.S.[4] Assistant Editor-In-Chief: Kristin Feeney, B.S. [5]

Synonyms and keywords: VSD

This chapter deals with congenital ventricular septal defect. The chapter on ventricular septal rupture can be found here

Overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, MBBS [2]; Cafer Zorkun, M.D., Ph.D. [3]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [4]

Overview

A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). The ventricular septum consists of a muscular (inferior) and membranous portion (superior). The membranous portion (which is close to the atrioventricular node) is most commonly affected.^[1]

Congential VSDs are collectively the most common congenital heart defect. The incidence of VSD in adulthood has decreased over past decades due to successful surgical closure of large defects.^[2]

Epidemiology and Demographics

The ventricular septal defect is the most common congenital cardiac malformation with an incidence of 300 to 350 per 100,000 live births,^[3] corresponding to 30% of all newborns with a congenital heart defect. There is no predilection based on sex. Incidence rates are similar in different races and seasons and are unrelated to maternal age, birth order, sex, and socioeconomic status. Congential VSDs are frequently associated with other congenital conditions, such as Down syndrome. ^[4]

Diagnosis

Physical Examination

The physical examination findings of a ventricular septal defect depend upon the size of the defect, the location of the defect, the magnitude and directionality of the intracardiac shunt, and the age of the patient (the duration of the VSD).

CT

Computed tomography can be helpful as a diagnostic tool in conditions where the echocardiographic findings are inconclusive.

MRI

Magnetic resonance imaging can be helpful as a diagnostic tool in conditions where the echocardiographic findings are inconclusive.

References

↑ Anderson RH, Ho SY, Becker AE. Anatomy of the human atrioventricular junctions revisited. Anatomical Record 2000;260:81-91
↑ Allwork SP, Anderson RH. Developmental anatomy of the membranous part of the ventricular septum in the human heart. Br Heart J 1979; 41:275-280
↑ Hoffman JI, Kaplan S (2002). “The incidence of congenital heart disease”. J Am Coll Cardiol. 39 (12): 1890–900. PMID 12084585.
↑ Giuliani et al, Cardiology: Fundamentals and Practice, Second Edition, Mosby Year Book, Boston, 1991.

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Classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Based on the size of the defect, VSD can be classified into small, medium, and large ventricular septal defects.

Classification

VSDs can be classified into small, medium, and large based on the size of the defect^[1]

Small VSDs

There is a small left-to-right shunt (Qp/Qs < 1.5) and a normal ratio of PA to systemic pressures.

Medium-Sized VSDs

There is a moderate shunt left-to-right present (Qp/Qs = 1.5-2.0) that still has some resistance to flow across the defect.

Large VSDs

There is a large defect on the ventricular septum, > 1 cm2/m2 of BSA, with a large shunt left-to-right (Qp/Qs is > 2), causing volume overload of the LV, which may result in its failure. The defect may approximate the size of the aortic orifice.

Membranous and muscular types of ventricular septal defect

References

↑ Soto B, Becker AE, Moulaert AJ, Lie JT, Anderson RH (1980). “Classification of ventricular septal defects”. Br Heart J. 43 (3): 332–43. doi:10.1136/hrt.43.3.332. PMC 482284. PMID 7437181.

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Pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] and Leida Perez, M.D.; Associate Editor(s)-in-Chief: Keri Shafer, M.D. [2]; Priyamvada Singh, M.B.B.S; Omar Toubat

Overview

In ventricular septal defect, a persistent opening in the upper interventricular septum resulting from failure of fusion with the aortic septum allows blood to flow from the high pressure left ventricle into the low pressure chamber or right ventricle. Disruption of the septation process, from inherited perturbations during embryological development or acquired cardiac injury, may result in ventricular septal defects (VSDs).

Pathophysiology

Embryology of VSD

The goal of ventricular septation is to permanently divide a single ventricular cavity into unique right and left chambers. Successful division of the ventricles necessitates a continuous barrier to ensure pulmonary and systemic flow separation in the developed heart. The true interventricular septum is a heterogenous structure composed of a muscular segment and a membranous segment. Disruption of the septation process, from inherited perturbations during embryological development or acquired cardiac injury, may result in ventricular septal defects (VSDs). The most commonly surgically corrected VSDs arise in the fibrous membranous ventricular septum.^[1]

Septation of the primitive ventricle into distinct right and left ventricular chambers begins shortly after cardiac looping. In the early stages of bilateral ventricular formation there is a large interventricular communication known as the primary interventricular foramen.^[2] However, this defect is temporary and begins to narrow as ventricular ballooning creates an upward muscular growth from the floor of the ventricle.^[3] The growth of the primitive muscular septum from its apical origin towards the endocardial cushion arrests before closure of the defect is complete, leaving a secondary interventricular foramen.^[4] Eventually the secondary interventricular foramen in sealed, accomplishing the bilateral division of the right and left ventricular chambers. Closure of the secondary interventricular foramen requires the proper convergence of three different tissues:^[5]

The muscular interventricular septum
The endocardial cushion
The bulbar septum

Together, the endocardial cushion and the bulbar septum contribute to the formation of the membranous septum, which will intersect the muscular septum and complete the process of ventricular septation.^[5]

VSDs develop in the membranous or muscular portions of the ventricular septum. Congenital muscular septal defects can emerge because of non-compaction of the muscular septum, leaving one of many interventricular communications in the postnatal heart.^[4] Likewise, improper positioning or growth of any component of the membranous septum also results in abnormal septation.^[4] Appropriate ventricular septation is a coordinated effort involving the spatiotemporal placement of several different tissue components. Morphological defects in this complex process are varied and can occur at any point during septation, accounting for the phenotypic dynamism in VSDs.

Anatomy of Ventricular Septum

Click here to learn more about the anatomy of the ventricular septum.

Diagram of VSD

Please click here to learn more about the normal ventricular septum anatomy.

Factors Affecting the Pathophysiology of VSD

The subsequent natural history and pathophysiology depends on
- The size of the defect
- The magnitude of left-to-right shunting.
- Small defects (QP/QS less than 1.5) maybe asymptomatic, but with the high risk for bacterial endocarditis.
- Large defects are associated with left ventricular failure.
- Chronic but more moderate left-to-right shunts may lead to pulmonary vascular disease and right sided failure.

The primary variable is the size of the defect. As a child grows, the relative size of the defect may decrease and the defect may even close spontaneously in early childhood.

During the first few months of life the PVR decreases, and the magnitude of left-to-right shunt increases. After the first few months the degree of shunting is dependent on the size of the defect.

Presentations in the Adult or Adolescent

a) Small defect without significant left-to-right shunting

b) Large defect with severe pulmonary hypertension and cyanosis due to right-to-left shunt.

c) Large defect with a large left-to-right shunt that has induced secondary infundibular stenosis (tough to differentiate from tetralogy of Fallot).

Small VSDs

A high resistance to flow across the VSD due to the large pressure difference between the two ventricles. There is a small left-to-right shunt (Qp/Qs < 1.5) and a normal ratio of PA to systemic pressures.

There is little or no increase in the pulmonary vascular resistance. A holosystolic murmur is present due to the pressure gradient across the defect. The majority of these defects close during the first three years of life.

Medium-Sized VSDs

There is a moderate left-to-right shunt present (Qp/Qs = 1.5-2.0) that still has some resistance to flow across the defect. There is also volume overload of the LA and the LV and LVH. There may therefore be a mid diastolic mitral murmur and a third heart sound (S3). The ratio of the PA systolic pressure to the systemic pressure is < 5.

The area of the defect is usually less than 1 cm²/m² of body surface area and is unusual for this group to have a marked increase in PVR. In some cases and depending on the type of VSD, as the child becomes older, the relative size of the defect will decrease.

Large VSDs

There is a large defect on the ventricular septum, > 1 cm²/m² of BSA, with a large shunt left-to-right (Qp/Qs is > 2), causing volume overload of the LV, which may result in its failure. The defect may approximate the size of the aortic orifice.

The ratio of the PA pressure to the systemic pressure is > 5. Produce the same clinical findings as moderate sized VSD but also pulmonary hypertension.

There is rarely spontaneously closure of the defect, and these patients either die, or progress to adolescence or adulthood with severe pulmonary hypertension or with secondary protective infundibular pulmonary stenosis.

In the group with severe pulmonary hypertension, the left-to-right shunt decreases and the degree of right-to-left shunting increases with accompanying cyanosis (i.e. they develop Eisenmenger’s syndrome).

Protective infundibular stenosis may also result in reversal of the shunt, and may be indistinguishable clinically from tetralogy of Fallot.

Gross Pathology

Images courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology

Ventricular septal defect, view from left ventricle
Interventricular Septal Defect (Muscular Septum): Gross, natural color, muscular septal defect in newborn
Subvalvular Ventricular Septal Defect: Gross, good view of defect with overriding aorta

Ventricular Septal Defect: Gross, infant heart, pulmonary outlet, muscular septal defect
Perimembranous Ventricular Septal Defect: Gross, fixed tissue, lesion seen from right ventricle (with patch)
Perimembranous Interventricular Septal Defect: Gross, fixed tissue, view from right atrium and ventricle with patch placed three days prior to death.

Perimembranous Ventricular Septal Defect: Gross, an excellent example
Ventricular Septal Defect: Gross, subvalvular defect, left ventricle view of tetralogy of Fallot (very good example)
Ventricular septal defect

Subpulmonic Ventricular Septal Defect: Gross, a well shown lesion.
Subvalvular Ventricular Septal Defect
Subvalvular Ventricular Septal Defect

Ventricular Septal Defect: Gross, natural color, view of opened heart with lungs attached shows rather well a subvalvular VSD
Double Outlet Right Ventricle: Gross, fixed tissue, close-up view of left ventricular outflow tract and patched ventricular septal defect. The override is obvious in this (very good) close-up view
Perimembranous Ventricular Septal Defect: Gross, fixed tissue, opened left ventricular outflow tract into aorta. Defect was patched 3 days prior to death

Atrial Septal Defect: Gross, (an excellent example) foramen ovale defect with right ventricular hypertrophy and fatty infiltration of the right ventricular wall, enlarged right atrium
Ventricular Septal Defect: Gross close-up adult heart, small perimembranous septal defect (very good example)
Interventricular Septal Defect (Muscular Septum): Gross, natural color, low septal defect shown from aortic outlet. The same defect (with a probe in hole) shown from right ventricle.

Interventricular Septal Defect (Muscular Septum): Gross natural color right ventricular outlet (probe in defect) view from left ventricular side
Atrial Septal Defect: Gross natural color infant heart foramen ovale defect, septum secundum
Aortic Subvalvular Ventricular Septal Defect: Gross, natural color, septal defect has patch repair. Aortic valve is myxomatous. A complex case of truncus with interrupted arch.

Interventricular Septal Defect Membranous Septum: Gross natural color close-up (an excellent demonstration)
Interventricular Septal Defect Membranous Septum: Gross natural color small defect well shown. Aortic cusps are scarred and one is perforated
Subvalvular Ventricular Septal Defect: Gross, natural color, close-up view of aortic outflow tract with a large subvalvular defect

Membranous Interventricular Septal Defect: Gross natural color subvalvular defect with probe immediately inferior to membranous septum
Subvalvular Ventricular Septal Defect: Gross, fixed tissue, large subpulmonic defect apparently represent left displacement of the pulmonary artery
Interventricular Septal Defect: Gross, fixed tissue, opened right ventricular outflow tract positioned to show perimembranous septal defect (as surgeon would see it during repair)

Ventricular Septal Defect Muscular: Gross, natural color, view from right ventricle with probe in defect right ventricular hypertrophy is evident
Ventricular Septal Defect Muscular: Gross, natural color, view from left ventricle with probe in defect
Interventricular Septal Defect Subvalvular with Patch Repair: Gross natural color 19yo with Tetralogy of Fallot also shows overriding aorta

Interventricular Septal Defect Subvalvular with Patch Repair: Gross, natural color, close-up
Interventricular Septal Defect (Perimembranous) with Patch Repair: Gross, natural color, view from right ventricle. A case of inverted ventricles
Interventricular Septal Defect (Perimembranous) with Patch Repair: Gross, natural color, view from left ventricular outflow tract

Ventricular Septal Defect (Subvalvular): Gross, fixed tissue, small heart with opened aorta and subvalvular defect shown. A case of pulmonary artery atresia
Truncus Arteriosus with Subvalvular Ventricular Septal Defect: Gross, natural color, an excellent view of subvalvular defect. Quadricuspid truncus valve and type I origin of pulmonary arteries
Truncus Arteriosus with Subvalvular Interventricular Septal Defect: Gross, natural color, defect is shown from the right side (view toward right ventricular outlet)

Truncus Arteriosus with Subvalvular Interventricular Septal Defect: Gross natural color excellent view of lesion looking at opened aortic ring with quadricuspid aortic valve. A large subvalvular defect (origin of pulmonary arteries is at forceps)
Av Canal with Left Side Bjork Shiley Prosthetic Valve: Gross, natural color, a close-up view of valve and the bridging defect
Interventricular Septal Defect (Perimembranous) with Patch Repair: Gross, fixed tissue, a close-up view of patch repair from right ventricle

Conduit Right Ventricle to Pulmonary Artery: Gross, fixed tissue, opened conduit showing sutures into ventricle and patch closed perimembranous interventricular septal defect
Ventricular Septal Defect (Perimembranous): Gross, natural color, (quite good photo – lesion before the operation)
Ventricular Septal Defect (Subvalvular) Repaired: Tetralogy of Fallot; Gross, fixed tissue, close-up view of a large subvalvular defect repaired with a Dacron patch (overgrown with fibrous tissue prominent subaortic shelf with endocardial thickening).

Ventricular Septal Defect (Subvalvular) Repaired: Tetralogy of Fallot; Gross, fixed tissue, close-up view of a large subvalvular defect repaired with a Dacron patch
Ventricular Septal Defect (Subvalvular) Repaired: Gross, fixed tissue, close-up view of Dacron patch. Nearly completely covered with fibrous tissue
Transposition Great Vessels with Interventricular Septal Defect: Gross, fixed tissue, opened left ventricular outflow tract into a pulmonary artery (perimembranous defect)

Transposition Great Vessels with Interventricular Septal Defect: Gross, fixed tissue, close-up of interventricular septal defect and pulmonary valve

References

↑ Anderson RH, Sarwark AE, Spicer DE, Backer CL (2014). “Exercises in anatomy: holes between the ventricles”. Multimed Man Cardiothorac Surg. 2014. doi:10.1093/mmcts/mmu026. PMID 25547619.
↑ Anderson RH, Webb S, Brown NA, Lamers W, Moorman A (2003). “Development of the heart: (2) Septation of the atriums and ventricles”. Heart. 89 (8): 949–58. PMC 1767797. PMID 12860885.
↑ Schleich JM, Abdulla T, Summers R, Houyel L (2013). “An overview of cardiac morphogenesis”. Arch Cardiovasc Dis. 106 (11): 612–23. doi:10.1016/j.acvd.2013.07.001. PMID 24138816.
↑ ^4.0 ^4.1 ^4.2 Anderson RH, Spicer DE, Brown NA, Mohun TJ (2014). “The development of septation in the four-chambered heart”. Anat Rec (Hoboken). 297 (8): 1414–29. doi:10.1002/ar.22949. PMID 24863187.
↑ ^5.0 ^5.1 Gittenberger-de Groot AC, Calkoen EE, Poelmann RE, Bartelings MM, Jongbloed MR (2014). “Morphogenesis and molecular considerations on congenital cardiac septal defects”. Ann Med. 46 (8): 640–52. doi:10.3109/07853890.2014.959557. PMID 25307363.

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Causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Leida Perez, M.D. Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2], Atif Mohammad, M.D., Priyamvada Singh, MBBS

Overview

The causes of VSD are not fully known. The septal defect between the right and left ventricle can be congenital that occurs alone or with other congenital abnormalities. Genetic association suggests the involvement of chromosome band 22q11 microdeletion in the mechanism of VSD development. In adults, Heart attacks can be complicated by the development of VSD.

Causes

The causes of VSD are not yet known. This defect often occurs along with other congenital heart defects^[1]

In adults, ventricular septal defects are a rare but serious complication of heart attacks. These holes are related to heart attacks and do not result from a birth defect.

Genetics – The frequent association between arch abnormalities and significant conal VSDs suggests a common mechanism involving a chromosome band 22q11 microdeletion. Deletions in this area have not been linked with isolated supracristal VSDs.

Maternal Drug use – Clomifene

References

↑ Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ (2014). “Ventricular septal defect”. Orphanet J Rare Dis. 9: 144. doi:10.1186/s13023-014-0144-2. PMC 4316658. PMID 25523232.

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Differentiating Ventricular Septal Defect from other Diseases

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Leida Perez, M.D. Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2], Priyamvada Singh, MBBS

Overview

Differentiating Ventricular Septal Defect from other Disorders

Differential diagnosis of Ventricular septal defect^[1]

Disease

Signs and Symptoms

Association

Diagnostic modality

Management

Prognosis

VSD^[2]

Shortness of breath
Tachypnea
Palpitation
Paleness
Failure to gain weight
Sweating while feeding
Frequent respiratory infections
Fainting
Chest pain
Cyanosis

Down syndrome
ventricular septal defects in association with other malformation syndromes:
fetal alcohol syndrome
trisomy syndromes
fetal hydantoin syndrome
postrubella infection (German measles)
maternal phenylketonuria (PKU)
Tetralogy of Fallot
Holt-Oram Syndrome
FG Syndrome
Genitopalatocardiac Syndrome
Fryns Syndrome
certain forms of Dandy-Walker Syndrome
Cardiomyopathy-Hypogonadism-Collagenoma Syndrome
Familial Idiopathic Cardiomyopathy
Simpson Dysmorphia Syndrome
Fetal Alcohol Syndrome
DiGeorge Syndrome
various Trisomy Syndromes
maternal alcoholism
maternal ingestion of phenylhydantoin
postrubella infection
maternal Phenylketonuria

Echocardiogram

Electrocardiogram (ECG)

Chest X-ray

Cardiac catheterization

Pulse oximetry

Small VSD: Observe, symptomatic treatment until spontaneous closure.
Surgical repair:
During first year of life
Immediately if severe symptoms present
Small VSD to prevent complications related to their locations, such as heart valves damage
Nutritional support or tubal feeding if VSD causing tiredness of the infant during feeding
Surgical repair
Catheter procedure
Hybrid procedure (surgical and catheter-based techniques)

Small VSD usually closes spontaneously by 18 months. Up to 75% are closed by the age of 10.
Medium to large VSDs often become smaller but remain patent and allow shunting of blood and eventual development of Eisenmenger’s syndrome and heart failure.
If large defects are not corrected before pulmonary hypertension develops the prognosis is poor.
Patients with the Eisenmenger’s syndrome have an average life expectancy of 33 years.
Surgical correction provide a better outcome.

Atrioventricular septal defect^[3]

Cyanosis mild or absent
Congestive cardiac failure
Right ventricular impulse
Increased pulmonic component second heart sound
Variable ejection systolic murmur, apical mid‐diastolic murmur (in large left to right shunt), pansystolic murmur (with atrioventricular valve regurgitation)

Subaortic stenosis
Ventricular hypoplasia
Tetralogy of Fallot
Atrial isomerism

Antenatal ultrasound anomaly scanning (four‐chamber view)
Postnatal diagnosis:
ECG
Chest radiograph
Echocardiogram
Magnetic resonance imaging
Angiography

Medical treatment

CHF:

diuretics and vasodilator such as captopril

digoxin (controversial)

feeding difficulties and failure to thrive

nasogastric tube to

Without surgery the natural history of complete AVSD, only 4% survival beyond 5 years old

Atrial septal defect^[4]^[5]^[6]^[7]

Asymptomatic
Soft, systolic ejection murmur over the pulmonic area (second intercostal space) combined with a wide, fixed splitting of S2
Large defects:
Exercise intolerance
Cardiac dysrhythmias
Palpitations
Increased incidence of pneumonia, pulmonary hypertension and increased mortality

Down syndrome
Noonan syndrome
Ellis van-Creveld syndrome
Opitz syndrome
Costello syndrome,
Chondroectodermal dysplasia
Rubella
Holt-Oram syndrome
Hurler syndrome

Echocardiogram
Chest X-ray
Electrocardiogram
Cardiac catheterization
MRI
CT scan

Medical monitoring
echocardiograms and annual exam to check for complications, such as pulmonary hypertension, arrhythmias, heart failure or valve problems
Medications
Surgery
Follow-up care

The surgical mortality rate increases with increasing age and pulmonary artery pressures.
Patients < 45 years without heart failure and with systolic pulmonary artery pressures less than 60 mm Hg have a mortality rate of surgical repair < 1%

Patent Ductus Arteriosus (PDA)^[8]

In adults is usually a coincidental finding during physical examination or echocardiography screening.

Atypical continuous murmur which can be heard at the higher left sternal edge.
May be associated with a wide pulse pressure due to the runoff to the pulmonary circulation.

Preterm birth
Congenital rubella syndrome
Chromosomal abnormalities ( Down syndrome)
Genetic conditions such as Loeys–Dietz syndrome
Wiedemann–Steiner syndrome
CHARGE syndrome

Chest Radiograph
Electrocardiogram
Echocardiogram
Magnetic Resonance Imaging and Computed Tomography
Cardiac Catheterization

Transcatheter Closure
Surgical Therapy

Prognosis depends on the size and magnitude of the shunt and the status of the pulmonary vasculature
Small PDA has normal prognosis
Large PDA with significant left heart volume overload:
Congestive Heart Failure
Hypertensive Pulmonary Vascular Disease
Endarteritis
Aneurysm of Ductus Arteriosus
recurrent laryngeal nerve paralysis

Infundibular Pulmonary Stenosis^[9]^[10]^[11]^[12]

Asymptomatic, he hypertrophied right ventricle can maintain adequate flow across the obstruction even in severe stenosis
Dyspnea
Chest pain
Palpitation on effort
Epigastric pain (exercise-induced right ventricular failure and hepatic congestion)
Presyncope or syncope on efforts (When the right ventricle fails to maintain adequate cardiac output)
Sudden death (severe stenosis even when asymptomatic)

Other congenital heart defects, such as atrial septal defect (ASD), ventricular septal defect (VSD), and persistent ductus arteriosus.
Combined valvular and infundibular PS can be part of tetralogy of Fallot (ToF).
Noonan syndrome

Chest radiography
Echo-Doppler ultrasonographic studies
Transesophageal echocardiography
Electrocardiography
Procedures
Cardiac catheterization
Angiocardiography

Surgical resection of the fibromuscular when significant hemodynamic compromise. The optimal time of surgery should be before the development of RV failure.
Percutaneous balloon valvuloplasty, it is only partially effective
Transcoronary alcohol ablation technique

If right ventricular failure develops, right atrial pressure will increase, and this may result in systemic cyanosis.
If pulmonary stenosis is severe, congestive heart failure occurs, and systemic venous engorgement will be noted

References

↑ LAMBERT EC, KELSCH JV, VLAD P (1963). “Differential diagnosis of ventricular septal defect in infancy: a common problem”. Am J Cardiol. 11: 447–51. doi:10.1016/0002-9149(63)90003-1. PMID 13928242.
↑ Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM (2007) Congenital defects among liveborn infants with Down syndrome. Birth Defects Res A Clin Mol Teratol 79 (9):657-63. DOI:10.1002/bdra.20393 PMID: 17696161
↑ Craig B (2006). “Atrioventricular septal defect: from fetus to adult”. Heart. 92 (12): 1879–85. doi:10.1136/hrt.2006.093344. PMC 1861295. PMID 17105897.
↑ El-Segaier M, Pesonen E, Lukkarinen S, Peters K, Ingemansson J, Sörnmo L; et al. (2006). “Atrial septal defect: a diagnostic approach”. Med Biol Eng Comput. 44 (9): 739–45. doi:10.1007/s11517-006-0094-5. PMID 16941100.
↑ Yoshihara K, Ozawa T, Sakuragawa H, Fujii T, Kawasaki M, Shiono N; et al. (1999). “[Noonan syndrome associated with atrial septal defect, pulmonary stenosis, and completely unroofed coronary sinus without LSVC: a case report]”. Kyobu Geka. 52 (2): 134–7. PMID 10036874.
↑ Geva T, Martins JD, Wald RM (2014). “Atrial septal defects”. Lancet. 383 (9932): 1921–32. doi:10.1016/S0140-6736(13)62145-5. PMID 24725467.
↑ Goldberg JF (2015). “Long-term Follow-up of “Simple” Lesions–Atrial Septal Defect, Ventricular Septal Defect, and Coarctation of the Aorta”. Congenit Heart Dis. 10 (5): 466–74. doi:10.1111/chd.12298. PMID 26365715.
↑ Schneider DJ, Moore JW (2006). “Patent ductus arteriosus”. Circulation. 114 (17): 1873–82. doi:10.1161/CIRCULATIONAHA.105.592063. PMID 17060397.
↑ Shyu KG, Tseng CD, Chiu IS, Hung CR, Chu SH, Lue HC; et al. (1993). “Infundibular pulmonic stenosis with intact ventricular septum: a report of 15 surgically corrected patients”. Int J Cardiol. 41 (2): 115–21. doi:10.1016/0167-5273(93)90150-f. PMID 8282434.
↑ Zaret BL, Conti CR (1973). “Infundibular pulmonic stenosis with intact ventricular septum in the adult”. Johns Hopkins Med J. 132 (1): 50–60. PMID 4682663.
↑ Mullins CE, Ludomirsky A, O’Laughlin MP, Vick GW, Murphy DJ, Huhta JC; et al. (1988). “Balloon valvuloplasty for pulmonic valve stenosis–two-year follow-up: hemodynamic and Doppler evaluation”. Cathet Cardiovasc Diagn. 14 (2): 76–81. doi:10.1002/ccd.1810140203. PMID 3365764.
↑ Park SJ, Lee CW, Hong MK, Song JK, Park SW, Kim JJ (1997). “Transcoronary alcohol ablation of infundibular hypertrophy in patients with idiopathic infundibular pulmonic stenosis”. Am J Cardiol. 80 (11): 1514–6. doi:10.1016/s0002-9149(97)00724-8. PMID 9399740.

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Epidemiology and Demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editors-In-Chief: Priyamvada Singh, MBBS [2]; Cafer Zorkun, M.D., Ph.D. [3]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [4]

Overview

The ventricular septal defect is the most common congenital cardiac malformation with an incidence of 300 to 350 per 100,000 live births,^[1] corresponding to 30% of all newborns with a congenital heart defect. There is no predilection based on sex. Incidence rates are similar in different races and seasons and are unrelated to maternal age, birth order, sex, and socioeconomic status. Congential VSDs are frequently associated with other congenital conditions, such as Down syndrome. ^[2]

Epidemiology and Demographics

Incidence in United States of America

Only in the United States, there are approximately 1 million adults with congenital heart disease, with 20,000 new patients reaching adolescence each year.

Age

Pediatrics

The incidence has been found to be approximately 300 to 350 infants per 100,000 live births. ^[1]

Adults

The prevalence of ventricular septal defects is less in adults compared to the infants. This might be due to the fact that many small ventricular septal defects have spontaneous closure in childhood. ^[3]^[4] Due to the improvement in early diagnosis in childhood and improved medical, surgical and ICU care, the number of adults will continue to rise. However, despite improved survival to adulthood, many patients will continue to have problems with residual shunts, valvular heart disease, ventricular dysfunction, heart failure and arrhythmias. The risk of sudden death in adults with congenital heart disease is nearly 25-50 times greater than would be expected for their age.
In adults (without congenital heart defects), a VSD can form a few days after a myocardial infarction (heart attack). It might be due to mechanical tearing of the septal wall, before scar tissue forms and macrophages start remodeling the dead (heart) tissue.

Gender

There is no predilection based on gender.

Race

There is no significant difference in incidences of ventricular septal defects based on race.

References

↑ ^1.0 ^1.1 Hoffman JI, Kaplan S (2002). “The incidence of congenital heart disease”. J Am Coll Cardiol. 39 (12): 1890–900. PMID 12084585.
↑ Giuliani et al, Cardiology: Fundamentals and Practice, Second Edition, Mosby Year Book, Boston, 1991.
↑ Du ZD, Roguin N, Wu XJ (1998). “Spontaneous closure of muscular ventricular septal defect identified by echocardiography in neonates”. Cardiol Young. 8 (4): 500–5. PMID 9855105.
↑ Kidd L, Driscoll DJ, Gersony WM, Hayes CJ, Keane JF, O’Fallon WM; et al. (1993). “Second natural history study of congenital heart defects. Results of treatment of patients with ventricular septal defects”. Circulation. 87 (2 Suppl): I38–51. PMID 8425321.

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Risk Factors

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editors-In-Chief: Priyamvada Singh, M.B.B.S. [2]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [3]

Risk Factors

It is unclear exactly why certain babies are born with septal defects. There is evidence to suggest that families with a history of genetic problems and other congenital heart disease may be at an increased risk for carrying and expressing the trait. Genetic testing may be performed to assist you in estimating the likelihood that any future children may be born with defect.^[1]

During pregnancy, drug and alcohol exposure can also harm the fetus during development and result in potential birth defects.

Refernces

↑ “Ventricular septal defect: MedlinePlus Medical Encyclopedia”. Retrieved 2013-01-08.

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Natural History, Complications and Prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editors-In-Chief: Keri Shafer, M.D. [2]; Atif Mohammad, M.D., Priyamvada Singh, MBBS

Natural History

Natural history of unoperated ventricular septal defect. Muscular and membranous defects usually close spontaneously

Restrictive ventricular septal defect

Small shunt (Qρ/Qѕ < 1.5/1.0 Qρ/Qs is pressure gradient between pulmonary and systemic circulation)
No significant hemodynamic compromise

Moderately restrictive ventricular septal defect

Moderate shunt (Qρ/Qѕ=1.5-2.5/1.0)
Hemodynamic burden on left atrium and ventricle.
Increase in pulmonary vascular resistance
Atrial and ventricular arrhythmia can occur

Large or Non restrictive venticular defect

High left and right ventricular volume overload
High pulmonary vascular resistance
Eisenmenger syndrome

Complications

Endocarditis
Aortic regurgitation
Subaortic or subpulmonary stenosis
Eisenmenger syndrome
Atrial and ventricular arrhythmia can occur

Prognosis

Many small defects will close on their own. For those defects that do not spontaneously close, the outcome is good with surgical repair. Complications may result if a large defect is not treated.

References

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Diagnosis

Treatment

Acknowledgements and Initial Contributors to Page

Leida Perez, M.D. Redmond Burke M.D.

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[2] Giuliani et al, Cardiology: Fundamentals and Practice, Second Edition, Mosby Year Book, Boston, 1991.

[pmid9855105-3] Du ZD, Roguin N, Wu XJ (1998). “Spontaneous closure of muscular ventricular septal defect identified by echocardiography in neonates”. Cardiol Young. 8 (4): 500–5. PMID 9855105.

[pmid8425321-4] Kidd L, Driscoll DJ, Gersony WM, Hayes CJ, Keane JF, O’Fallon WM; et al. (1993). “Second natural history study of congenital heart defects. Results of treatment of patients with ventricular septal defects”. Circulation. 87 (2 Suppl): I38–51. PMID 8425321.

[urlVentricular_septal_defect:_MedlinePlus_Medical_Encyclopedia-1] “Ventricular septal defect: MedlinePlus Medical Encyclopedia”. Retrieved 2013-01-08.

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Ventricular septal defect

Overview

Epidemiology and Demographics

Diagnosis

Physical Examination

CT

MRI

References

Overview

Classification

Small VSDs

Medium-Sized VSDs

Large VSDs

References

Overview

Pathophysiology

Embryology of VSD

Anatomy of Ventricular Septum

Diagram of VSD

Factors Affecting the Pathophysiology of VSD

Presentations in the Adult or Adolescent

Small VSDs

Medium-Sized VSDs

Large VSDs

Gross Pathology

References

Overview

Causes

References

Overview

Differentiating Ventricular Septal Defect from other Disorders

References

Overview

Epidemiology and Demographics

Incidence in United States of America

Age

Pediatrics

Adults

Gender

Race

References

Risk Factors

Refernces

Natural History

Restrictive ventricular septal defect

Moderately restrictive ventricular septal defect

Large or Non restrictive venticular defect

Complications

Prognosis

References

Diagnosis

Treatment

Acknowledgements and Initial Contributors to Page

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