Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins

Lab Invest. 2023 Nov;103(11):100233. doi: 10.1016/j.labinv.2023.100233. Epub 2023 Aug 9.

Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.

Keywords: ACDMPV; FOXF1; alveolar capillary dysplasia with misalignment of pulmonary veins; fast genetic testing; targeted sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Clinical Relevance
  • Forkhead Transcription Factors / genetics
  • Humans
  • Infant, Newborn
  • Persistent Fetal Circulation Syndrome* / diagnosis
  • Persistent Fetal Circulation Syndrome* / genetics
  • Persistent Fetal Circulation Syndrome* / pathology
  • Pulmonary Alveoli / abnormalities*
  • Pulmonary Alveoli / pathology

Substances

  • Forkhead Transcription Factors
  • FOXF1 protein, human

Supplementary concepts

  • Alveolar capillary dysplasia