An extremely rare tetralogy of Fallot with absent pulmonary valve and unilateral absence of the pulmonary artery: a rare report of De Bucket Syndrome

Abstract Background Only a limited number of studies have reported on TOF with absent pulmonary valve (APV). Similarly, while cases of TOF with absent pulmonary artery (PA) have been documented, case reports describing TOF with both APV and absent PA are extremely rare. Case presentation The present study investiged the case of a 1-year-old girl born at term with no initial clinical or physical signs of cyanosis. A subtle additional heart murmur detected during routine examination prompted referral to a cardiologist. Subsequent echocardiography and computed tomography (CT) angiography confirmed TOF with APV and absence of the left pulmonary artery (LPA). The patient later underwent corrective surgery, including pulmonary valve reconstruction and pulmonary artery plication. Conclusion Although TOF is a common cyanotic congenital heart disease, certain variants of TOF, such as TOF with APV and absent LPA, may present without the typical cyanotic or respiratory symptoms. Therefore, even the slightest additional heart murmur should be thoroughly investigated. While clinical examination, arterial oxygenation, and echocardiography are essential, definitive diagnosis and precise anatomical characterization ultimately require CT angiography.