History

Fact Explanation
Asymptomatic [1],[2] Small ventricular septal defects (VSD) less than 0.5 cm in diameter are usually asymptomatic. 40% of small VSD's close spontaneously in early childhood and muscular VSD's are more likely to close spontaneously. [1],[2],[3],[6]
Breathlessnes[2] Medium sized VSD's are uncommon unless if it is associated with protective valvular or sub valvular pulmonary stenosis (25% to 30%). Those patients present with dyspnea. [2]
Cyanosis - bluish discoloration [2] This occurs only if Eisenmenger syndrome is present. Patients with large VSD have a left to right shunt that causes systemic circulation to be underfilled and the pulmonary circulation to be overfilled. This congestion alters the gas exchange at alveoli. Therefore present in adolescence with symptoms as cyanosis, dyspnoea and syncope. [2],[7]
Pulmonary hypertension [2] Patients with a large VSD usually present in infancy. It can be present with pulmonary stenosis and pulmonary hypertension. Pulmonary hypertension commonly presents in adolescence with symptoms of cyanosis, dyspnoea and syncope. [2]
Syncope [2],[3] Patients with large VSD's usually present in infancy. It can coexist with pulmonary stenosis and pulmonary hypertension. Pulmonary hypertension commonly presents in adolescence with symptoms of cyanosis, dyspnoea and syncope [2],[3]. Patients with VSD and Aortic Regurgitation also present with syncope secondary to the right ventricular outflow tract obstruction due to a prolapsing coronary cusp, or heart failure due to progressive left ventricular volume overload. [2]
Cardiac failure [2],[3] This occurs due to progressive left ventricular volume overload[2],[3]
Infective endocarditis (IE) [4] IE occurs when there is a interaction between the bloodstream pathogen with matrix molecules and platelets at sites of endocardial cell damage. Initially there is formation of nonbacterial thrombotic endocarditis (NBTE) on the surface of a cardiac valve or elsewhere that endothelial damage occurs, bacteremia, later adherence of the bacteria in the bloodstream to NBTE and proliferation of bacteria within a vegetation occurs. [5]
References
  1. NEUMAYER U. Small ventricular septal defects in adults. European Heart Journal [online] 1998 October, 19(10):1573-1582 [viewed 27 May 2014] Available from: doi:10.1053/euhj.1998.1083
  2. Ventricular Septal Defects in Adults: American College of Physicians–American Society of Internal Medicine, 2001[viewed 27 May 2014]. Available from: http://uthsc.edu/cardiology/articles/VSD%20review.pdf
  3. ASHLEY EA, NIEBAUR J. Cardiology Explained. London: Remedica; 2004. Chapter 14, Adult congenital heart disease. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2212/
  4. CONGENITAL HEART DISEASE IN ADULTS,First of Two Parts: The New England Journal of Medicine; 1997 [viewed 27 May 2014]. Available from: https://www.uthsc.edu/cardiology/articles/Valvular_Heart_Disease_NEJM.pdf
  5. WILSON W., TAUBERT K. A., GEWITZ M., LOCKHART P. B., BADDOUR L. M., LEVISON M., BOLGER A., CABELL C. H., TAKAHASHI M., BALTIMORE R. S., NEWBURGER J. W., STROM B. L., TANI L. Y., GERBER M., BONOW R. O., PALLASCH T., SHULMAN S. T., ROWLEY A. H., BURNS J. C., FERRIERI P., GARDNER T., GOFF D., DURACK D. T.. Prevention of infective endocarditis: Guidelines from the American Heart Association: A guideline from the American Heart Association Rheumatic Fever, Endocarditis and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Journal of the American Dental Association [online] December, 139(1):3S-24S [viewed 27 May 2014] Available from: doi:10.14219/jada.archive.2008.0346
  6. AL HAKIM Fakhri. Clinical outcome of small ventricular septal defect. JRMS [online] June 2005. 12(1): 10-14.[Viewed on 28 May 2014]. Availble from: http://www.jrms.gov.jo/Portals/1/Journal/2005/pdf%20june2005/CLINICAL%20OUTCOME%20OF%20SMALL%20VENTRICULAR%20SEPTAL%20DEFECTS%20(VSDs)%20.pdf
  7. WOOD P. The Eisenmenger Syndrome: I Br Med J [online] 1958 Sep 20, 2(5098):701-709 [viewed 28 May 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2026671

Examination

Fact Explanation
Murmur[1] Typical murmur heard in VSD is a harsh holosystolic plateau-shaped murmur of relatively high frequency, best heard in the left sternal border. If the defect is subarterial blood is shunted directly into the pulmonary artery and due to that the murmur is heard maximally in the second intercostal space and may become “diamond-shaped” (crescendo–decrescendo) or simply consist of a systolic ejection component. If the defect is muscular, the murmur may stop well before s2 because the defect decreases in size or obliterates in the later part of systole. In a VSD with mild pulmonary stenosis, the murmur is holosystolic but the pulmonary closure sound is delayed. A VSD with moderately severe pulmonary stenosis, the murmur gets shorter as the left to right shunt diminishes, and the pulmonary sound is soft and delayed. The VSD with severe pulmonary stenosis, the murmur is replaced by a long systolic ejection murmur which is typical of pulmonary stenosis.[1],[2]
Palpable thrill[1] In a small VSD a palpable thrill is present in 3rd or 4th intercostal space. [1]
Palpable P2 (pulmonary valve closure)[1] With VSD there is left to right shunt and blood flow in pulmonary circulation increase causing pulmonary hypertension and right ventricular hypertrophy. [1],[2],[3]
Heave at the sternal edge [2] With VSD there is left to right shunt and blood flow in pulmonary circulation increase causing pulmonary hypertension and right ventricular hypertrophy. [1],[2],[3]
Jugular Venous Pressure [1] In VSD most patients get increased venous pressure, with a predominant “A” wave because of the right ventricular hypertrophy and decreased compliance . A "V" wave is seen if there is a failing right ventricle and tricuspid regurgitation.[1]
Cyanosis [1] If the VSD progress into Eisenmenger syndrome these signs can be seen[1]. As deoxygenated blood is shunted into the systemic circulation.
Clubbing [1] If the VSD progress into Eisenmenger syndrome these signs can be seen[1].
Wide pulse pressure [1] If there is aortic regurgitation with the VSD there will be wide pulse pressure and other features of aortic regurgitation such as collapsing pulse, dancing carotids, uvula pulsation, capillary pulsation etc. [1]
References
  1. Ventricular Septal Defects in Adults: American College of Physicians–American Society of Internal Medicine, 2001[viewed 27 May 2014]. Available from: http://uthsc.edu/cardiology/articles/VSD%20review.pdf
  2. CONGENITAL HEART DISEASE IN ADULTS,First of Two Parts: The New England Journal of Medicine; 1997 [viewed 27 May 2014]. Available from: https://www.uthsc.edu/cardiology/articles/Adult_Congenital1_NEJM.pdf
  3. ENGELFRIET PM, DUFFELS MG, MöLLER T, BOERSMA E, TIJSSEN JG, THAULOW E, GATZOULIS MA, MULDER BJ. Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart disease Heart [online] 2007 Jun, 93(6):682-687 [viewed 28 May 2014] Available from: doi:10.1136/hrt.2006.098848

Differential Diagnoses

Fact Explanation
Pulmonary Stenosis(PS) [1] Causes 10-12% of congenital heart disease in adults. This may be associated with a VSD. In patients who has moderate or severe pulmonary stenosis, may have parasternal heave, and there may be a thrill at the second left intercostal space. s1 is normal, and the second heart sound is widely split, not fixed. PS murmur is a harsh crescendo - decrescendo systolic murmur that is heard over the left sternal border.[1]
Patent Ductus Arteriosus [1] Small PDA are asymptomatic, patients have a normal life expectancy but have a risk of infective endocarditis. A moderate sized PDA may be asymptomatic or may have fatigue, dyspnea, or palpitations and rarely causes left ventricular failure. Moderate to large VSDs show bounding peripheral arterial pulses, a widened pulse pressure, and a heaving of the apex and machinery murmur in second left anterior intercostal space.[1]
References
  1. BRICKNER M. ELIZABETH, HILLIS L. DAVID, LANGE RICHARD A. Congenital Heart Disease in Adults. N Engl J Med [online] 2000 January, 342(4):256-263 [viewed 28 May 2014] Available from: doi:10.1056/NEJM200001273420407

Investigations - for Diagnosis

Fact Explanation
Echocardiogram [1] Sensitivity - 88% Specificity - 95%. It is most sensitive for VSDs larger than 5 mm, in the membranous inlet or outlet portion of the septum. It is least sensitive for apical muscular defects. It can identify the morphological features as size, borders and associated defects. It also provides an accurate assessment of the shunt, severity, volume overload, subpulmonic or pulmonic stenosis, and pulmonary hypertension.[1]
References
  1. AMMASH Naser M, WARNES Carole A. Ventricular Septal Defects in Adults. Ann Intern Med.[Online] 2001;135:812-824. [viewed 27 May 2014]. Available from: http://uthsc.edu/cardiology/articles/VSD%20review.pdf

Investigations - Fitness for Management

Fact Explanation
Cardiac catheterization[1] This is an important method used to assess pulmonary vascular resistance in VSD especially when complicated. Should be routinely performed prior to surgical closure.[1,2]
References
  1. AMMASH Naser M, WARNES Carole A. Ventricular Septal Defects in Adults. Ann Intern Med.[Online] 2001;135:812-824. [viewed 27 May 2014]. Available from: http://uthsc.edu/cardiology/articles/VSD%20review.pdf
  2. MAGEE AG, BOUTIN C, MCCRINDLE BW, SMALLHORN JF. Echocardiography and cardiac catheterization in the preoperative assessment of ventricular septal defect in infancy. Am Heart J [online] 1998 May, 135(5 Pt 1):907-13 [viewed 28 May 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/9588424

Investigations - Followup

Fact Explanation
Electrocardiogram (ECG/EKG) [1] Preexisting ECG abnormalities depend on the size and location of the VSD. Commonest abnormality is Right Bundle Branch Block (RBBB). When VSD progress into Eisenmenger syndrome the ECG shows right axis deviation, right atrial and ventricular enlargment and ventricular hypertrophy. [1]
Chest X-ray (CXR) [1] Small VSD - Normal CXR When a VSD progress into Eisenmenger syndrome cardiomegaly is seen in CXR[1]
Cardiac catherterization [1] Cardiac catheterization is an important method used to assess pulmonary vascular resistance in VSD especially when complicated.[1]
References
  1. AMMASH Naser M, WARNES Carole A. Ventricular Septal Defects in Adults. Ann Intern Med.[Online] 2001;135:812-824. [viewed 27 May 2014]. Available from: http://uthsc.edu/cardiology/articles/VSD%20review.pdf

Management - General Measures

Fact Explanation
Endocarditis prophylaxis [1] Before a dental procedure - Amoxicillin 2g oral, or Ampicillin or Cefazolin or ceftriaxone 2g IM/IV Before invasive procedure in respiratory tract (without ongoing infection) - same as dental procedure Before invasive procedure in respiratory tract(with ongoing infection) - antibiotic regime should act against viridans group of sptreptococci. Prior to Gastrointestinal or Genitourinary procedures - antibiotic prophylaxis is not recommended.[1]
References
  1. WILSON W., TAUBERT K. A., GEWITZ M., LOCKHART P. B., BADDOUR L. M., LEVISON M., BOLGER A., CABELL C. H., TAKAHASHI M., BALTIMORE R. S., NEWBURGER J. W., STROM B. L., TANI L. Y., GERBER M., BONOW R. O., PALLASCH T., SHULMAN S. T., ROWLEY A. H., BURNS J. C., FERRIERI P., GARDNER T., GOFF D., DURACK D. T.. Prevention of Infective Endocarditis: Guidelines From the American Heart Association: A Guideline From the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Circulation [online] 2007 October, 116(15):1736-1754 [viewed 28 May 2014] Available from: doi:10.1161/​CIRCULATIONAHA.106.183095

Management - Specific Treatments

Fact Explanation
Surgical repair [1] In a small VSD, surgical repair is consider if a second attack of endocarditis occurs but some evidence suggests it is better to do surgical repair even without endocarditis as there is a risk of developing volume overload in left ventricle due to the long standing shunt. A medium to large VSD is not common among adults as most are surgically repaired during childhood. If the patient has pulmonary hypertension decision to do the surgery is taken after cardiac catheterization evaluation.
Device closure Transcatheter device closure is an alternative strategy for management of both complex muscular and postoperative residual VSDs.This is especially valuable in patients with associated complex congenital heart disease. [1],[3],[4],[5]
Management of Pulmonary hypertension: General Measures [2] Encourage to be active within symptom limits and avoid severe exertion. [2]
Management of Pulmonary hypertension: Pregnancy and Birth Control There is a 30-50% risk of mortality associated pregnancy in pulmonary hypertension. Recommended methods are barrier methods (but have questionable efficacy), Mirena and progesterone only preparations such as medroxyprogesterone acetate and etonogestrel. [2]
Management of Pulmonary hypertension: Supportive therapy Oral anticoagulants (Warfarin) is given for the prevention of vascular thrombotic lesions. Diuretics can be prescribed in event of Right Heart Failure for fluid retention. While supplemental oxygen therapy has been shown to reduce pulmonary vascular resistance. Digoxin improves cardiac output and reduces the ventricular rate. [2]
Management of Pulmonary hypertension: Specific pharmacological management Specific management includes, Calcium Channel Blockers to prevent smooth muscle cell hypertrophy, hyperplasia, and vasoconstriction. Prostacyclins are used for their property of being a potent vasodilator. Sildenafil is a commonly prescribed drug for pulmonary hypertension it is a phosphodiesterase type 5 inhibitor. [2]
References
  1. AMMASH Naser M, WARNES Carole A. Ventricular Septal Defects in Adults. Ann Intern Med.[Online] 2001;135:812-824. [viewed 27 May 2014]. Available from: http://uthsc.edu/cardiology/articles/VSD%20review.pdf
  2. GALIE N., HOEPER M. M., HUMBERT M., TORBICKI A., VACHIERY J.-L., BARBERA J. A., BEGHETTI M., CORRIS P., GAINE S., GIBBS J. S., GOMEZ-SANCHEZ M. A., JONDEAU G., KLEPETKO W., OPITZ C., PEACOCK A., RUBIN L., ZELLWEGER M., SIMONNEAU G., VAHANIAN A., AURICCHIO A., BAX J., CECONI C., DEAN V., FILIPPATOS G., FUNCK-BRENTANO C., HOBBS R., KEARNEY P., MCDONAGH T., MCGREGOR K., POPESCU B. A., REINER Z., SECHTEM U., SIRNES P. A., TENDERA M., VARDAS P., WIDIMSKY P., SECHTEM U., AL ATTAR N., ANDREOTTI F., ASCHERMANN M., ASTEGGIANO R., BENZA R., BERGER R., BONNET D., DELCROIX M., HOWARD L., KITSIOU A. N., LANG I., MAGGIONI A., NIELSEN-KUDSK J. E., PARK M., PERRONE-FILARDI P., PRICE S., DOMENECH M. T. S., VONK-NOORDEGRAAF A., ZAMORANO J. L.. Guidelines for the diagnosis and treatment of pulmonary hypertension: The Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). European Heart Journal [online] December, 30(20):2493-2537 [viewed 28 May 2014] Available from: doi:10.1093/eurheartj/ehp297
  3. HOLZER RALF, BALZER DAVID, CAO QI-LING, LOCK KEN, HIJAZI ZIYAD M. Device closure of muscular ventricular septal defects using the Amplatzer muscular ventricular septal defect occluder. Journal of the American College of Cardiology [online] 2004 April, 43(7):1257-1263 [viewed 28 May 2014] Available from: doi:10.1016/j.jacc.2003.10.047
  4. KNAUTH A. L.. Transcatheter Device Closure of Congenital and Postoperative Residual Ventricular Septal Defects. Circulation [online] 2004 August, 110(5):501-507 [viewed 28 May 2014] Available from: doi:10.1161/​01.CIR.0000137116.12176.A6
  5. HOLZER RALF, BALZER DAVID, CAO QI-LING, LOCK KEN, HIJAZI ZIYAD M. Device closure of muscular ventricular septal defects using the Amplatzer muscular ventricular septal defect occluder. Journal of the American College of Cardiology [online] 2004 April, 43(7):1257-1263 [viewed 28 May 2014] Available from: doi:10.1016/j.jacc.2003.10.047