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Ventricular Septal Defect ( VSD )

Ventricular septal defect -A defect in the interventricular septum that allows shunting of blood between the left
 and right ventricles ( BMJ Best Practice )
 
How common – Commonest congenital heart defect It is widely quoted that isolated VSDs are the most common congenital heart disease Seen less commonly in adults as most VSDs eventually close spontaneously VSDs can occur
 
Can happen in isolation or with other abnormalities as ASDs PDA right aortic arch pulmonic stenosis complex heart disease as Tetralogy of Fallot , transposition of great arteries ,double outlet right ventricle.
 
Types -No universally agreed classification Based on location
- perimembranous ( most common )
- supracristal
- atrioventricular
- muscular Size -large , medium and small ( in comparison to the diameter of the aortic annulus )
 
Risk factors – family h/o congenital heart disease maternal alcohol consumption during pregnancy maternal metabolic disturbances ( e.g diabetes ) Down’s syndrome.
 
Differentials – Atrial septal defects Mitral regurgitation Tricuspid regurgitation Atrioventricular septal defects.
 
What happens- Left to right shunt due to abnormal connection between the ventricles. The shunt is left to right as the Lt ventricular pressure is greater than rt ventricular pressure during systole.
This shunting of blood increases the right ventricular volume and output which can cause pulmonary hypertension. Left atrial enlargement and increased left ventricular preload and stroke volume. Congestive cardiac failure and dyspnoea over time

Other complications of VSD include Eisenmenger syndrome Endocarditis Embolization Aortic valve leaflet prolapse.
 
Presentation- The size of the shunt and the resultant haemodynamic compromise will determine the presentation.
 
Small defect – do not cause significant left to right shunt with no resultant LV fluid overload or PAH ( pulmonary arterial hypertension ) usually asymptomatic often an incidental finding small VSDs are also called restrictive


 
Moderate defect – can cause a significant increased in blood flow via the pulmonary circulation may cause moderate LV volume overload – with or without PAH can present in late childhood with congestive heart failure
Large defect – Can cause severe LV overload and PAH – present as CHF early in childhood.
 
VSD may not be apparent at birth if the pressure in the chambers is equal and a lack of shunting As the pulmonary vascular resistance drops the left to right shunt would increase This would subject the rt ventricle to high pressures and it becomes hypertrophied while the left atrium and left ventricle receive excess volume and become dilated CCF may develop and can present as
- tachycardia
- tachypnoea
- breathlessness and sweating during feeding
- exercise intolerance
- recurrent respiratory tract infections
- failure to thrive ( poor weight gain ) typically becomes more apparent at 6-8 wks Exception to above would be seen in children with Down’s syndrome as the pulmonary vascular resistance may not drop and signs of VSD may not manifest.
 
Clinical- Clinical

 holosystolic or pansystolic murmur
- grade will depend on velocity of flow
- best heard left lower sternal border
- murmur would generally be easily heard
- it would not increase with inspiration 
- smaller defects produce louder murmurs and
 less intense an softer in large ones palpation of precordium may reveal a laterally displaced impulse ( LV volume overload ) 2nd HS incd pulmonary component ( elevated pul pressure ) Large VSD would present with signs of congestive heart failure.
 
ECG- can be normal in more than 1/2 of patients if PAH the findings may include
- rt bundle branch block
- rt axis deviation
- RV hypertrophy with strain LV hypertrophy.
 
CXR- small shunts would not cause any change cardiomegaly increased pulmonary vascularity.
 
Echocardiography-can directly image the shunt and measure hemodynamic parameters as chamber size , Qp/Qs ratio and pulmonary pressures Cardiac MRI / CT Cardiac catheterization
 
Eisenmenger syndrome – Eisenmenger syndrome happens when the pulmonary vascular resistance exceeds the systemic VR and the shunt reverses
 cyanosis ,desaturation ,dyspnoea ,syncope ,secondary erythrocytosis clubbing typical VSD murmur may be absent and accentuated pulmonic component of the 2nd HS may be heard may happen within 2 yrs in otherwise health kids and within 1 yr in kids with Down’s.
 
Management Children with small VSDs may not need any intervention as majority of these may close within the 1st year of life
VSD closure can also continue to happen during childhood , adolescence and adulthood Moderate VSD – based on symptoms 
 – medical e.g diuretics , digoxin , ACEi ,prophylactic antibiotics
- closure -surgical or catheter closure ( safe and effective ) Complex VSD for e.g with other abnormalities , Eisenmenger syndrome would be managed in specialised paediatric units
Patient Information
CDC on VSD
https://www.cdc.gov/ncbddd/heartdefects/ventricularseptaldefect.html
American Heart Association – covers both paediatrics and adult VSD https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/ventricular-septal-defect-vsd
A wonderful resource for parents on large VSDs from British Heart Foundation https://www.bhf.org.uk/informationsupport/publications/children-and-young-people/understanding-your-childs-heart—large-ventricular-septal-defect
Children’s Heart Foundation with a useful video and simple explainer for parents http://www.chfed.org.uk/how-we-help/information-service/heart-conditions/ventricular-septal-defect-vsd/
A plain language page on VSD from Adult Congenital Heart Association – excellent work https://www.achaheart.org/your-heart/health-information/ventricular-septal-defect/
References

  1. Dakkak W, Oliver TI. Ventricular Septal Defect. [Updated 2020 Jun 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-. Available from: 
  2. Ghosh S, Sridhar A, Solomon N, Sivaprakasham M. Transcatheter closure of ventricular septal defect in aortic valve prolapse and aortic regurgitation. Indian Heart J. 2018 Jul-Aug;70(4):528-532. doi: 10.1016/j.ihj.2017.11.023. Epub 2017 Nov 27. PMID: 30170648; PMCID: PMC6117845. ( Abstract )
  3. Suluba, E., Shuwei, L., Xia, Q. et al. Congenital heart diseases: genetics, non-inherited risk factors, and signaling pathways. Egypt J Med Hum Genet 21, 11 (2020).
  4. Etiology of Ventricular Septal Defects: An Epidemiologic Approach Thomas B. Newman
  5. Ashok Muralidaran, Irving Shen,
    49 – Ventricular Septal Defects,
    Editor(s): Ross M. Ungerleider, Jon N. Meliones, Kristen Nelson McMillan, David S. Cooper, Jeffrey P. Jacobs,
    Critical Heart Disease in Infants and Children (Third Edition),
    Elsevier, 2019, Pages 597-605.e2, ( Abstract )
  6. Emedicine -Ventricular Septal Defects Treatment & Management Updated: Dec 10, 2015 Author: Prema Ramaswamy, MD; Chief Editor: Howard S Weber, MD, FSCA https://emedicine.medscape.com/article/892980-treatment
  7. Ventricular Septal Defects Merck Manual https://www.msdmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/ventricular-septal-defect-vsd
  8. Rao, P Syamasundar, and Andrea D Harris. “Recent advances in managing septal defects: ventricular septal defects and atrioventricular septal defects.” F1000Research vol. 7 F1000 Faculty Rev-498. 26 Apr. 2018, doi:10.12688/f1000research.14102.1
  9. Santhanam H, Yang L, Chen Z, Tai BC, Rajgor DD, Quek SC. A meta-analysis of transcatheter device closure of perimembranous ventricular septal defect. Int J Cardiol. 2018 Mar 1;254:75-83. doi: 10.1016/j.ijcard.2017.12.011. Epub 2017 Dec 7. PMID: 29273241.( abstract )
  10. CV Physiology Com https://www.cvphysiology.com/Heart%20Disease/HD007
  11. Cardiology A Chapter in Core Concepts of Pediatrics, 2nd Edition UTMB health Pediatrics The University of Texas Medical Branch https://www.utmb.edu/pedi_ed/CoreV2/Cardiology/cardiologyV2/cardiologyV26.html
  12. BMJ Best Practice VSDs https://bestpractice.bmj.com/topics/en-gb/1100
  13. Ventricular Septal Defects
    Mary S. Minette, MD; David J. Sahn, MD (Circulation. 2006;114:2190-2197. https://www.ahajournals.org/doi/pdf/10.1161/CIRCULATIONAHA.106.618124
  14. The Natural and Unnatural History of
    Ventricular Septal Defects Presenting in
    Infancy: An Echocardiography-Based
    Review
    Kelly Cox, MD, Claudia Algaze-Yojay, MD, Rajesh Punn, MD, and
    Norman Silverman, MD, DSc, FAHA, Palo Alto, California Journal of the American Society of Echocardiography
    June 2020 https://www.onlinejase.com/article/S0894-7317(20)30035-3/pdf

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