[Tetralogy of Fallot with absent pulmonary valve syndrome diagnosed in adulthood by infective endocarditis : Case of report]

Ann Cardiol Angeiol (Paris). 2023 Apr;72(2):101573. doi: 10.1016/j.ancard.2022.11.008. Epub 2022 Dec 17.
[Article in French]


Absent pulmonary valve syndrome is a rare congenital heart disease. Associated with ventricular septal defect, it is considered a rare variant of Tetralogy of Fallot "Tetralogy of Fallot with absent pulmonary valve syndrome". It is characterized by its association with aneurysmal pulmonary arteries responsible for airways compression. Survival to adulthood of this unrepaired congenital heart disease is very rare, and the case of the patient we report in this article is added to the rare cases reported in the literature. Clinical tolerance depends on the degree of severity of the malformation and in particular on the importance of the aneurysmal dilation of the pulmonary arteries, thus determining the age of the diagnosis, the severity of symptoms, and the mode of evolution. Diagnosis of Tetralogy of Fallot with absent pulmonary valve syndrome must be established by transthoracic echography. Other investigations can be of capital contribution, such as thoracic computed tomography angiography and cardiac catheterization. The treatment is surgical and includes closure of the ventricular septal defect, relieve right ventricular outflow tract obstruction, and surgical reduction of the aneurysmal pulmonary arteries.

Keywords: Adult congenital heart disease; Cardiopathie congénitale de l'adulte; Infective endocarditis; Tetralogy of Fallot with absent pulmonary valve syndrome; agénésie de la valve pulmonaire avec CIV; endocardite infectieuse.

Publication types

  • English Abstract

MeSH terms

  • Endocarditis, Bacterial* / complications
  • Heart Defects, Congenital* / complications
  • Heart Septal Defects, Ventricular* / complications
  • Humans
  • Pulmonary Valve* / diagnostic imaging
  • Pulmonary Valve* / surgery
  • Tetralogy of Fallot* / complications
  • Tetralogy of Fallot* / diagnosis
  • Tetralogy of Fallot* / surgery