Two cases of different genetic variants of alveolar capillary dysplasia associated with left-sided obstructive CHDs

Cardiol Young. 2021 Aug;31(8):1368-1370. doi: 10.1017/S1047951121000676. Epub 2021 Mar 5.


Alveolar capillary dysplasia with misalignment of the pulmonary veins is an uncommon disorder that affects the lung vasculature development in the neonatal period and leads to pulmonary hypertension. We describe two patients with alveolar capillary dysplasia associated with left-sided obstructive heart defects with two different genetic variants. Our cases highlight the importance of early recognition of this disease in the setting of persistent and supra-systemic pulmonary hypertension despite surgical correction of the associated lesions. Identification of these cases will facilitate the development of a multidisciplinary approach and provide guidance to the affected families.

Keywords: Alveolar capillary dysplasia; CHD; pulmonary hypertension.

MeSH terms

  • Humans
  • Infant, Newborn
  • Lung
  • Persistent Fetal Circulation Syndrome* / complications
  • Persistent Fetal Circulation Syndrome* / diagnosis
  • Persistent Fetal Circulation Syndrome* / genetics
  • Pulmonary Alveoli / abnormalities
  • Pulmonary Veins* / diagnostic imaging

Supplementary concepts

  • Alveolar capillary dysplasia