Extremely rare. Autosomal recessive or de novo (65%) transmission of a mutation of the TBX4 gene (17q23.2). Respiratory problems and severe pulmonary hypertension in the first days of life (24-48h). Pulmonary hypertension is however absent in about 10 % of cases: hypoxemia is then moderate and survival is a few months long. A small number of patients survive with persistent pulmonary hypertension. This is one of the forms of familial pulmonary hypertension (see pulmonary hypertension).

Anesthetic implications:

management of a severe pulmonary hypertension; lung biopsy

References :

-        Al-Hathlol K, Phillips S, Seshia MMK, Casiro O, Alvaro RE,Rigatto H.
Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature. Early Human Development 2000; 57: 85–94

-        Vincent M, Karolak JA, Deutsch G, et al.
Clinical, histopathological, and molecular diagnostics in lethal lung developmental disorders.
Am J Respir Crit Care Med 2019; 200 : 1093-101

Updated: October 2021