Tetralogy of Fallot with pulmonary valve agenesis

Introduction: tetralogy of Fallot with pulmonary valve agenesis is a complex congenital heart disease, with a prevalence of 2-6%, frequently associated with chromosomopathies. Case report: 2-month-old male infant diagnosed on the fourth day of birth with Tetralogy of Fallot with pulmonary valve agenesis. He presented with a clinical picture characterized by respiratory symptoms such as dyspnea, mild distal cyanosis, dry cough, slight subcostal and intercostal initially, which evolved into a picture of metabolic alkalosis compensating for respiratory acidosis, with frequent events of bronchospasm due to compression of the bronchi by dilatation of the trunk and branches of the pulmonary artery. Treatment was clinical, symptom management. Mechanical ventilation in prone position, treatment with diuretics for hypertension and intravenous inotropic drugs were required. The patient died at 3 months of life. Conclusions: tetralogy of Fallot with pulmonary valve agenesis is a complex, infrequent and potentially fatal entity, where patient survival is determined by complete primary correction of the defect, mainly before the onset of respiratory symptoms, and the infrequency and complexity of its management make this congenital heart disease a challenge for the medical community. A deep and continuous study of atypical heart disease is necessary to achieve better medical care.