Alveolar capillary dysplasia is a fatal disorder of the lung that requires lung biopsy for diagnosis. We reviewed the course of patients with alveolar capillary dysplasia following implementation of an early lung biopsy strategy between 1997-2002. We performed immunohisto-chemical studies on all tissue specimens. We diagnosed 7 cases of alveolar capillary dysplasia. We diagnosed 6/7 cases of alveolar capillary dysplasia pre-mortem by early lung biopsy. Median time between admission and lung biopsy was 6.5 days. All patients survived lung biopsy but died following withdrawal of active therapy after confirmation of the tissue diagnosis. In 1 patient we demonstrated histological findings of alveolar capillary dysplasia and congenital acinar dysplasia. Two patients were first cousins. One patient underwent pulmonary angiography with rapid filling of the pulmonary veins before passage of contrast through the capillary bed. Five patients were supported with extracorporeal membrane oxygenation and 2/5 patients survived decannulation. During the same period 8 patients required ECMO for acute hypoxic respiratory failure. Four out of 8 were diagnosed with alveolar capillary dysplasia.
Conclusions: Early lung biopsy was performed with low risk and high diagnostic yield for alveolar capillary dysplasia. Alveolar capillary dysplasia occurs frequently in neonates who require ECMO support for refractory pulmonary hypertension. We have added an additional familial case and suggest a novel angiographic finding.