A 9-week-old female infant was brought to the emergency department with progressive lethargy, decreased oral intake, and increased work of breathing. Caregivers reported that she had been sleeping more than usual and appeared less interactive over several days. Feeding had become increasingly difficult, with diaphoresis and tachypnea during bottle feeds requiring frequent pauses.
On arrival, vital signs were concerning for tachycardia (162 bpm) and tachypnea (65 breaths/min), with blood pressure 88/56 mmHg and oxygen saturation 93% on room air. The temperature was 37.6 °C. Weight was 4.1 kg.
Physical examination revealed a pale, mildly underweight, lethargic infant with mild subcostal retractions. Cardiovascular examination demonstrated a grade II/VI holosystolic murmur best heard at the mid-lower left sternal border with radiation to the apex, along with an S4 gallop. Peripheral pulses were diminished (1+), extremities were cool, and capillary refill was prolonged at 3–4 seconds. Hepatomegaly was present with the liver edge palpable 3–4 cm below the right costal margin. Lung examination was otherwise clear.
Initial laboratory evaluation showed a normal complete metabolic panel and a complete blood count with WBC 9,500/mm³ and haemoglobin 11.4 g/dL. Chest radiograph demonstrated moderate cardiomegaly with mild pulmonary oedema. Electrocardiogram revealed sinus tachycardia with left axis deviation and voltage criteria for biventricular hypertrophy.
Given concern for structural heart disease with congestive heart failure, transthoracic echocardiography was performed. This demonstrated a large non-restrictive peri-membranous ventricular septal defect with significant left-to-right shunting, dilation of all cardiac chambers, and left ventricular systolic function at the lower limit of normal. No pericardial effusion was noted.
The patient was diagnosed with congestive heart failure secondary to a hemodynamically significant ventricular septal defect. Medical therapy was initiated with loop diuretics and afterload reduction using an angiotensin-converting enzyme inhibitor. Nutritional optimisation with high-calorie feeds was started. Oxygen was used cautiously due to the risk of increased pulmonary overcirculation. Plans were made for elective surgical repair once adequate growth was achieved.
Introduction
Large ventricular septal defects are among the most common congenital heart lesions presenting in early infancy. As pulmonary vascular resistance declines after birth, significant left-to-right shunting may lead to pulmonary overcirculation and symptomatic congestive heart failure, typically between 6 and 12 weeks of age. Early recognition is essential to prevent failure to thrive, recurrent respiratory symptoms, and progression to pulmonary vascular disease.
Discussion
This case highlights classic features of infant heart failure, including tachypnea, feeding intolerance with diaphoresis, hepatomegaly, and poor perfusion. Importantly, normal oxygen saturation does not exclude significant congenital heart disease. The presence of cardiomegaly on chest radiograph and biventricular hypertrophy on ECG appropriately prompted echocardiographic evaluation.
Medical management focuses on reducing pulmonary congestion and optimising systemic output. Loop diuretics relieve volume overload, while ACE inhibitors reduce afterload and neurohormonal activation. Digoxin may be considered in selected patients. Careful nutritional support is critical, as increased metabolic demand and feeding fatigue commonly impair growth.
Definitive management of large, non-restrictive VSDs is surgical closure, typically performed between 3 and 6 months of age, once adequate weight gain has been achieved. Delayed repair risks the development of pulmonary hypertension and the eventual onset of Eisenmenger physiology. In infants who fail medical therapy and are not immediate surgical candidates, pulmonary artery banding may be considered as a temporising measure.
Conclusion & Learning Points
· Feeding-associated diaphoresis and tachypnea are key early clues to infant congestive heart failure.
· Normal oxygen saturation does not exclude significant left-to-right shunt lesions.
· Hepatomegaly and prolonged capillary refill are sensitive bedside markers of poor cardiac output in infants.
· Echocardiography is essential for definitive diagnosis when cardiomegaly and heart failure signs are present.
· Early medical optimisation supports growth before definitive VSD closure.
