Why the study?
While surgical repair has improved Tetralogy of Fallot outcomes, cases of untreated disease in adulthood still occur in low-resource settings, presenting unique clinical challenges.
This case highlights the rare survival of a patient with uncorrected Tetralogy of Fallot into their fifth decade of life, underscoring the natural history of the disease in resource-limited settings.
Adult survival with uncorrected ToF remains possible; this case leaves open optimal screening and management in low-resource settings.
Introduction: Tetralogy of Fallot (ToF) is a congenital heart defect characterized by a combination of four anomalies: right ventricular hypertrophy, ventricular septal defect (VSD), right ventricular outflow tract (RVOT) obstruction, and an overriding aorta. While surgical interventions have significantly improved the prognosis of ToF, cases of undiagnosed or untreated ToF in adulthood remain, particularly in low-resource settings. This report highlights the case of an adult patient with uncorrected ToF, underscoring the challenges individuals face in such environments. Case Report: A 43-year-old male from Somalia presented with recurrent syncope, exertional dyspnea, and a history of congenital heart disease diagnosed in childhood. Due to financial constraints and limited healthcare access, he was unable to undergo surgery. On clinical examination, the patient exhibited cyanosis, grade 3 clubbing, and a pansystolic murmur. Investigations showed secondary polycythemia, right ventricular hypertrophy on ECG, and a large VSD with an overriding aorta. Echocardiography confirmed these findings, revealing the anatomical abnormalities typical of ToF. Discussion: Untreated ToF often leads to significant morbidity, including worsening cyanosis, syncope, and heart failure. In this case, delayed surgical intervention and lack of resources contributed to the progression of symptoms. The patient's case emphasizes the importance of early diagnosis and surgical repair, particularly in resource-limited settings where access to advanced care is limited. Conclusion: This case highlights the critical need for early intervention and improved healthcare access for individuals with congenital heart defects in low-income settings. Timely diagnosis, surgical repair, and ongoing care can substantially improve outcomes for patients with ToF.
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Warfaa et al. (2025) studied this question.
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