A rare case of tetralogy of Fallot with absent Pulmonary valve
Keywords:
children, newborn, diagnosis, Tetrallogy of Fallot, absent pulmonary valve, congenital heart defectAbstract
Tetrallogy of Fallot (ToF) is the most common cyanotic congenital heart defect (CHD), which occurs in 10–15% of cases. ToF with absent pulmonary valve (PV) is the rarest form of classic ToF, which encounters 2% frequency rate. Clinically, this defect manifests in varying degrees of severity of cyanosis and respiratory disorders ranging from minor to severe respiratory failure. Echocardiographically, ToF with absent PV valve is characterized by massive aneurysmal dilation of the pulmonary arteries. Cusps of the valve are completely absent or have uneven edges and rudimentary valve tissue.
Case report. The rare clinical case of ToF with absent pulmonary valve combined with Schmidt—Fricaro genetic syndrome is discussed in this article. Heart defect was discovered accidentally, as the child did not have any cardiac symptoms but presented with the following congenital anomalies: rectal atresia and upper extremity finger anomalies. Respiratory failure began to develop and increase over time. This is the sixth clinical case of tatrallofy of Fallot with absent pulmonary valve observed in a twenty-year period at the Lviv Regional Children's Clinical Hospital «OHMATDYT».
Conclusions. The main feature of this clinical case is the combination of a rare anatomy of congenital heart disease — Tetrallogy of Fallot with absent pulmonary valve (aneurysm of the right pulmonary artery and agenesia of the left) with a Schmid- Frakkaro genetic syndrome. Clinical manifestations of congenital heart disease were absent immediately after birth, due to the moderate stenosis and the presence of a left-to-right shunt, which was caused by increased resistance of the pulmonary arteries. The open ductus arteriosus was present in this case, which is a bad prognostic marker, and is usually absent. Progressive airway obstruction by the dilated pulmonary arteries determined the main clinical symptoms in this case and was a cause of death in this patient.
The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institutions. The informed consent of the child's parents was obtained from the studies.
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