Ventricular Septal Defects Clinical Presentation

Updated: Dec 09, 2020
  • Author: Prema Ramaswamy, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
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The symptoms and physical findings associated with ventricular septal defects (VSDs) depend on the size of the defect and the magnitude of the left-to-right shunt. The defects observed in adult patients are usually small or medium-sized because the vast majority of patients with isolated large defects come to medical and, often, surgical attention early in life.

Small VSDs

Typically, patients have mild or no symptoms. These infants are most often brought to the cardiologist’s attention because a murmur is detected during routine examination. Feeding or weight gain usually is not affected.

Moderate VSDs

Babies may have excessive sweating as a consequence of increased sympathetic tone. This sweating is especially notable during feeds. An important symptom is fatigue with feeding. Because feeding results in a need for increased cardiac output, this activity may unmask exercise intolerance in a baby. Rapid breathing (tachypnea) at rest or with feedings is usually present.  

A sensitive sign may be the lack of adequate growth, which is due to an increased caloric requirement and an inability of the infant to feed adequately. Frequent respiratory infections may occur secondary to the pulmonary congestion.

Symptoms, which begin as pulmonary vascular resistance (PVR) decreases, may be clearly apparent by age 2-3 months. They tend to occur earlier in premature infants than in full-term infants because PVR decreases earlier in the former than in the latter.

Large VSDs

Symptoms and signs are similar to, but more severe than, those observed in infants with moderate defects. Symptoms may be occur later or, rarely, not at all, because of a delayed or no significant decrease in pulmonary vascular resistance. Poor weight gain and frequent respiratory infections are common.

Eisenmenger syndrome, or VSD with severe pulmonary vascular disease

At rest, patients may have no symptoms with mild systemic desaturation. With exercise, symptoms include exertional dyspnea, cyanosis, chest pain, syncope, and hemoptysis.


Physical Examination

In a patient with small VSDs, physical findings consist primarily of cardiac manifestations. In patients with moderate-to-large defects, growth may be affected to the point where abnormalities are apparent on general examination.

The axiom “the louder the murmur, the smaller the defect” does not always apply. The murmurs heard in early infancy, which disappear by age 1 year, probably represent spontaneous closure of the defects. The recognition of the diastolic murmur of aortic insufficiency, in the presence of classic findings of VSD, should make the diagnosis of supracristal variety likely.

Small VSDs

Patients may have normal vital signs. Physiologic splitting of S2 is usually retained. The characteristic harsh, holosystolic murmur is loudest along the lower left sternal border (LSB), and it is well localized. Small defects can produce a high-pitched or squeaky noise. The murmur is usually detected after the PVR decreases by age 4-8 weeks.

Moderate VSDs

Infants often have a normal length and decreased weight. Poor weight gain is a sensitive indicator of congestive heart failure (CHF). Infants may have mild tachypnea, tachycardia, and an enlarged liver. The precordial activity is accentuated.

The murmur with moderate-sized defects is usually associated with thrill. A holosystolic harsh murmur is most prominent over the lower LSB. The intensity of the pulmonary component is usually normal or slightly increased. In addition to the harsh holosystolic murmur, a diastolic rumble may be detected in the mitral area. This rumble suggests functional mitral stenosis secondary to a large left-to-right shunt and indicates a surgical-level shunt (pulmonary-to-systemic flow ratio [Qp:Qs] greater than 2:1)

Large VSDs

As with moderate defects, signs of CHF are usually present. The cardinal signs of heart failure include tachycardia, tachypnea, and hepatomegaly. In addition, cardiomegaly is present and helps in differentiating heart failure from a respiratory condition (eg, bronchiolitis). The murmur is usually short, nonspecific, and poorly localized with an associated diastolic rumble. A loud single second heart sound at the upper left sternal border is also characteristic. 

A VSD is not typically associated with cyanosis: it is a “pink” condition. Thus, persistent cyanosis from birth indicates a more complicated lesion than isolated VSD. The occurrence of cyanosis after infancy suggests reversal of the shunt. Patients with large VSDs and marked elevations of PVR frequently appear well in childhood because the blood flow in their systemic and pulmonary circuits is well balanced.

Eisenmenger syndrome, or VSD with severe pulmonary vascular disease

Children with Eisenmenger syndrome may have tachypnea only with exercise and not at rest. They may be only mildly cyanotic at rest but then develop profound cyanosis with exercise.