article · Asploro Journal of Biomedical and Clinical Case Reports
Tetralogy of Fallot is a common cyanotic congenital heart defect that involves structural abnormalities including ventricular septal defect, overriding aorta, right ventricular outflow tract obstruction, and right ventricular hypertrophy. Survival into adulthood without medical or surgical intervention is rare, occurring in approximately ten percent of untreated cases. A thirty-one-year-old man presented to a secondary healthcare facility in Gombe, Nigeria, experiencing exercise intolerance that originally started during childhood. Despite severe long-term oxygen deprivation evidenced by central cyanosis, finger clubbing, and an elevated packed cell volume of seventy-one percent, he had maintained daily activities without previous cardiac evaluation. Diagnostic tests, including chest radiography, electrocardiography, and transthoracic echocardiography, confirmed the presence of uncorrected Tetralogy of Fallot. Such clinical cases emphasise the necessity for healthcare workers to suspect congenital heart diseases in adults displaying exertional dyspnoea and cyanosis, ensuring prompt referral for specialised echocardiographic assessment.
Congenital heart conditions are typically diagnosed and treated during infancy, as untreated defects carry severe health risks and high mortality. Demonstrating that patients can reach adulthood without surgical intervention highlights the critical need for clinical vigilance. Raising awareness encourages earlier diagnostic referrals and access to cardiac imaging, which can identify undetected heart defects in older patients experiencing persistent respiratory or circulatory symptoms.
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Background: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease encountered in clinical practice. It consists of ventricular septal defect (VSD), overriding aorta, right ventricular outflow tract obstruction (RVOTO), and right ventricular hypertrophy (RVH). Clinical severity depends on the degree of RVOTO, presence or absence of extracardiac shunts or collaterals, and other factors. Only 10% of untreated patients survive into adulthood. Objective: To describe late presentation of TOF and uncommon survival in a 31-year-old patient. Case Report: A 31-year-old male presented at the cardiology clinic of a secondary healthcare facility in Gombe, Gombe State, Nigeria, with complaints of exercise intolerance. His symptoms started at 4 years of age, and he did not have any significant limitation in day-to-day activities. He had no history of prior cardiac investigation or care. Significant examination findings were plethora, central cyanosis, grade 4 finger clubbing, height 170 cm, weight 70 kg, body mass index 24.2 kg/m², grade 3/6 systolic murmur at the left upper sternal border, and blood pressure of 110/70 mmHg. Packed cell volume was 71%, SPO₂ was 84%; chest X-ray showed a normal-sized heart with boot-shaped appearance, presence of pulmonary bay, and lung oligemia. Electrocardiographic findings were in keeping with RVH. Transthoracic echocardiography revealed a large subaortic VSD, overriding aorta, severe valvular pulmonary stenosis, and right ventricular hypertrophy. Conclusion: There should be a high index of suspicion for CHDs in adults presenting with dyspnea on exertion and cyanosis. Also, there is a need for early diagnosis of CHD through prompt referral of patients with respiratory or cardiac symptoms to centers that can perform echocardiography.
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DOI: 10.36502/2025/asjbccr.6427
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