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Cardiovascular System
Diagnosis and reasoning

Asymptomatic cardiac murmurs are a surprisingly common clinical finding and maybe both physiological (i.e. 'flow murmurs')
and pathological in origin.
Clinical findings in favor of a pathological murmur include the presence of dysmorphic features, a harsh or a loud murmur and
cyanosis or hypoxia upon pulse oximetry. A family history of congenital cardiac disease or a history of rheumatic fever (which
may cause rheumatic valvular disease) should also arouse suspicion.
In this specific patient, a pathological murmur in the le lower sternal edge might be either due to a ventricular septal defect
(VSD), or due to tricuspid regurgitation (TR). However, TR typically causes jugular venous distention with a prominent V wave,
pulsatile liver and a third heart sound, making this diagnosis unlikely.
The next steps in his evaluation should be echocardiography (along with an ECG and chest x-ray).
The echocardiogram shows a small VSD in the membranous portion of the septum, establishing the diagnosis. There is minimal
hemodynamic compromise, while the ECG and chest x-ray are completely normal.
Surgical closure is not indicated currently, as he is asymptomatic with minimal hemodynamic compromise. Anti-arrhythmic
therapy is not indicated, while modern guidelines do not recommend endocarditis prophylaxis in these patients. Cardiac
transplantation is definitely not an option.
Discussion
VSDs are the most common congenital cardiac abnormality in infants and children and occur with similar frequency in boys and
girls. Between 25% to 40% close spontaneously by 2 years of age, while almost all of those which eventually close have done so
by the time the child is 10 years old.
While it is rare for such patients to present during adulthood in the developed world, such patients are still common in
developing countries.
Anatomically, around 70% of VSDs are located in the membranous portion of the inter-ventricular septum, 20% are in the
muscular portion, 5% lie just below the aortic valve (undermining the valve and causing associated aortic regurgitation) and 5%
are found near the junction of the mitral and tricuspid valves (causing an atrio-ventricular defect).
The defect between the ventricles causes shunting from one side of the heart to the other. The direction and degree of the shunt
depend on two factors : the size of the defect and the relative resistance in the systemic and pulmonary circulations.
If the defect is small, the shunt is minimal and ventricular function is also virtually una ected. However, if the defect is large, a
large shunt occurs and the pressure in both ventricles equalizes.
Initially, the systemic vascular resistance is higher than that of the pulmonary circulation - thus shunting takes place from le to
right. As time progresses, the pulmonary vascular resistance gradually increases and eventually exceeds the systemic resistance,
leading to shunt reversal.
The clinical findings depend on the degree and direction of the shunt. With a le to right shunt, a pansystolic mumur is audible
over the le lower sternal edge, and is o en accompanied by a thrill. As pulmonary hypertension sets in, a parasternal heave
becomes apparent, while the murmur and thrill gradually diminish in intensity as the le to right shunt diminishes. Once shunt
reversal sets in, central cyanosis and clubbing becomes apparent.
With small VSDs, the ECG may appear normal. With large defects, there may be evidence of le atrial and ventricular
enlargement. Once pulmonary hypertension occurs, the cardiac axis shi s to the right, and features of right atrial and ventricular
enlargement appear.
The chest X-ray may also be normal in a small VSD. If the defect is large, le ventricular and atrial enlargement may be noted,
while following the advent of pulmonary hypertension, enlargement of the pulmonary arteries, peripheral pruning and
oligaemic lung fields may be seen.
Echocardiography with Doppler flowmetry allows confirmation of the presence and location of the VSD, and provides
information about the magnitude and direction of the shunt.
Catheterization and angiography yields the above information and also allows estimation of the pulmonary vascular resistance.
Note that cardiac catheterization should mainly be considered where echocardiographic findings are equivocal.
The natural history of VSDs depends on the size of the defect and the pulmonary vascular resistance. Adults with small defects
and normal pulmonary arterial pressure are generally asymptomatic, and pulmonary vascular disease is unlikely to develop.
Patients with large defects who survive to adulthood usually have le ventricular failure or pulmonary hypertension with
associated right ventricular failure.
Surgical or device closure of the defect is recommended if the ratio of pulmonary blood flow to systemic blood flow (Qp:Qs) is
greater than 2:1 and there is clinical evidence of le ventricular volume overload; or if there is a history of infective endocarditis.
In addition, there should not be severe irreversible pulmonary hypertension.
If large defects are le uncorrected for a prolonged period, progressive pulmonary hypertension causes shunt reversal with
development of central cyanosis (Eisenmenger syndrome). At this point, heart-lung transplantation remains the only curative
therapy.
Take home messages

1. The key clinical findings in patients with a VSD include a pansystolic mumur over the le lower sternal edge, with or without a
parasternal heave.
2. VSDs with hemodynamic compromise require surgical or device closure. Asymptomatic VSDs may be le alone, with expectant
management.
3. If large VSDs are le uncorrected, shunt reversal and progress into Eisenmenger's syndrome takes place. At this point, the only
curative therapy is heart-lung transplantation.
4. Endocarditis prophylaxis is no longer recommended in these patients.
References
1. Indications and Outcomes of Surgical Closure of Ventricular Septal Defect in Adults (2011)
2. JACC : ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American
College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop
Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American
Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for
Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons (2008)
3. JACC : Long-term outcome of patients with ventricular septal defect considered not to require surgical closure during
childhood (2002)
4. Annals of Internal Medicine : Ventricular Septal Defects in Adults (2001)
5. NEJM : Congenital Heart Disease in Adults (2000)
6. American Family Physician : Diagnostic Evaluation of Dyspnea (1998)
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Diagnosis and reasoning

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