Alveolar capillary dysplasia

Abstract

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, fatal developmental lung disorder of neonates and infants. This review aims to address recent findings in the etiology and genetics of ACD/MPV and to raise awareness of this poorly known disease, which may also present as milder, unclassified forms. Successively discussed are what is known about the epidemiology, pathogenesis, pathophysiology, diagnostic indicators and approaches, genetic testing, treatment, and cases of delayed onset. The review concludes with suggestions for future directions to answer the many unknowns about this disorder.

Figure 1.

Hematoxylin and eosin staining of an autopsy specimen from an infant who presented at 5 weeks demonstrates the characteristic histologic features of ACD/MPV: small pulmonary arteries with medial hyperplasia (a), congested pulmonary veins malpositioned within the same adventitial sheath (v), and a dilated bronchiole (b). Additional findings, (i.e., neutrophilic infiltrate and hemorrhage) are consequences of the hypoxemic respiratory failure and aggressive ventilatory support. (Courtesy of the Weill Cornell Medical College Department of Pathology and Laboratory Medicine.)