Warfaa Abdirahman A, Said Abdirahman Ibrahim, Abdulahi Mohamoud, Hassan Mohamed Said
College of Health Science, School of Medicine, Amoud University, Borama, Somalia.
School of Postgraduate Studies and Research, Amoud University, Borama, Somalia.
Int Med Case Rep J. 2025 Jul 5;18:827-835. doi: 10.2147/IMCRJ.S529873. eCollection 2025.
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.
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.
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.
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.
法洛四联症（ToF）是一种先天性心脏缺陷，其特征是四种异常情况同时存在：右心室肥大、室间隔缺损（VSD）、右心室流出道（RVOT）梗阻和主动脉骑跨。虽然手术干预已显著改善了法洛四联症的预后，但成年期未被诊断或未得到治疗的法洛四联症病例仍然存在，尤其是在资源匮乏的地区。本报告重点介绍了一名成年法洛四联症未矫正患者的病例，强调了个体在这种环境中所面临的挑战。
一名来自索马里的43岁男性，出现反复晕厥、劳力性呼吸困难，并有儿童期诊断的先天性心脏病病史。由于经济拮据和医疗服务可及性有限，他无法接受手术。临床检查时，患者出现发绀、3级杵状指和全收缩期杂音。检查显示继发性红细胞增多症、心电图显示右心室肥大，以及一个大的室间隔缺损伴主动脉骑跨。超声心动图证实了这些发现，揭示了法洛四联症典型的解剖异常。
未经治疗的法洛四联症通常会导致严重的发病情况，包括发绀加重、晕厥和心力衰竭。在本病例中，手术干预延迟和资源匮乏导致了症状的进展。该患者的病例强调了早期诊断和手术修复的重要性，特别是在获得高级护理有限的资源受限环境中。
本病例突出了低收入环境中先天性心脏缺陷患者早期干预和改善医疗服务可及性的迫切需求。及时诊断、手术修复和持续护理可显著改善法洛四联症患者的预后。
