Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing

Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?

“…The current diagnostic gold standard, lung biopsy, is often impractical in a critically ill neonate. Lung involvement in ACDMPV can be patchy [4] and biopsy interpretation can be impacted by ventilator-associated lung injury, leading some to caution against ruling out this disorder after a single negative biopsy [2,5,7]. Lung biopsy can also be limited by turnaround time, with histologic diagnosis taking days to weeks and longer if repeated biopsy is required due to patchy disease involvement.…”

“…Reports of successful lung transplantation exist only for those with atypical presentation of ACDMPV without immediate refractory hypoxemia [4]. ACDMPV is most often caused by de novo variants in FOXF1 (Forkhead box F1) on chromosome 16q24 (OMIM #601089), with pathogenic single nucleotide variants (SNVs) and copy number variants (CNVs) identified in both coding and noncoding regions [5,6].…”

Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report

“…FOXF1, located on chromosome 16q24.1, is the causative gene of ACDMPV. 1 Many types of disease-causing variants of FOXF1 have been described, including missense, nonsense, and copy-number variants.…”

“…Typical histopathological findings of ACDMPV include thickening of the muscular layer of pulmonary arterioles, malposition of the pulmonary vein adjacent to pulmonary arterioles, and maldevelopment of the pulmonary acinus with a reduction in volume and simplification in structure. FOXF1 , located on chromosome 16q24.1, is the causative gene of ACDMPV 1 . Many types of disease‐causing variants of FOXF1 have been described, including missense, nonsense, and copy‐number variants.…”

“…FOXF1 , located on chromosome 16q24.1, is the causative gene of ACDMPV. 1 Many types of disease‐causing variants of FOXF1 have been described, including missense, nonsense, and copy‐number variants. Extrapulmonary anomalies are generally identified in FOXF1 ‐associated diseases, such as hypoplastic left heart syndrome, gastrointestinal malrotation and genitourinary system anomalies.…”