Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

Abstract

The 1- and 5-year survival rates for infants with atypical ACDMPV are similar to infants transplanted for other indications. Given the clinical and histopathologic spectra, ACDMPV should be considered in infants with hypoxemia and pulmonary hypertension, even beyond the newborn period.

Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins

“…The histological findings diagnostic for ACD/MPV are characterized by decreased pulmonary capillaries, thickened alveolar septa, medial hypertrophy of small pulmonary arteries, and malposition of pulmonary veins adjacent to small pulmonary arteries, which clinically results in lethal pulmonary hypertension and hypoxemia . Towe et al recently reported a case series study in which six infants underwent bilateral lung transplantation for ACD/MPV, and the posttransplant outcomes were comparable to those of infants transplanted for other indications …”

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

“…This could allow neonatologists to give a diagnosis rapidly but this examination is often impossible because of patients’ haemodynamic instability. Moreover, like suggested in literature, a negative result for biopsy could be an issue of sampling bias, suggesting patchy lung involvement, mostly in patients with atypical presentations 10 11. Therefore, a normal lung biopsy should not eliminate ACD.…”

“…The age of death is also variable: two of our cases presented with prolonged survival, 3.3 months and 1 year and 2 months, respectively. Some cases with a prolonged survival were described in the literature 7 10 11. The longest survival was described by Reiter et al in 2016 about a 3-year-old patient, still alive at the time of publication 9.…”

“…Its diagnosis is histological2 and is defined by: immature lobular development, decreased number of pulmonary capillaries, lymphangiectasia, medial hypertrophy of small pulmonary arteries, muscularisation of distal arterioles and dilated bronchial veins in the same adventitial sheath as pulmonary arteries 3. ACD is a pathology with phenotypic variability since many cases of delayed presentation and/or prolonged survival have been described 4–11. In 2009, Stankiewicz et al ascribed ACD to heterozygous loss of function of the FOXF1 gene 12.…”

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

“…Patients with ACDMPV can present with persistent pulmonary hypertension in the neonatal period and may have death early in life (Bishop et al, ). However, some patients may have atypical presentations with later onset of symptoms and milder symptoms, as summarized by (Towe et al, ). Ito et al () published a case with ACDMPV and FOXF1 frameshift mutation that presented late and survived to over 3 years of age.…”