Familial persistent pulmonary hypertension.

Abstract

We report three siblings with persistent pulmonary hypertension of newborn associated with abnormal muscularisation of the intra-acinar pulmonary arteries. To our knowledge, this is the first report of familial primary pulmonary hypertension of the newborn, and the occurrence in three siblings suggests a recessively inherited genetic trait.

Incidence of alveolar capillary dysplasia in severe idiopathic persistent pulmonary hypertension of the newborn

“…describes three new-born siblings with fetal pulmonary hypertension. 32 At autopsy, the only abnormality noticed was muscularization of the intra-acinar arteries, similar to the abnormality in one patient in the present study.…”

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

“…3 Most cases of ACD/MPV are sporadic with only a few reported familial cases (B10%). 4,[6][7][8][9] Affected infants typically present with pulmonary hypertension within a few hours of birth and despite treatment with positive pressure oxygen, nitric oxide, sildenafil and/or extracorporeal membrane oxygenation, clinical improvement is limited and survival is brief. [10][11][12] A few cases of late presentation and longer survival have been reported.…”

Contribution of pulmonary surfactant with inhaled nitric oxide for treatment of pulmonary hypertension

“…Some patients with PPHN had extension of the muscularized wall to the intraacinar and alveolar arterioles 23 . This kind of abnormal development may be the result of either long‐term hypoxia or a primary abnormality of the vascular architecture 24,25 . In these cases, gas exchange at the alveolar duct and alveoli is important for the action of iNO.…”