Table 2.
Clinical Characteristics of Infants with Atypical Presentation of ACDMPV
| Patient | EGA (wks) |
Neonatal Symptoms |
Age at Presentation |
Cardiac Anomalies |
Additional Anomalies |
CT imaging | Cardiac Catheterization |
Pulmonary Hypertension Medications |
ECMO | Support at Time of Lung Transplant |
Age
at Transplant (months) |
Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Term | Transient tachypnea at birth, discharged home on room air | 3 months (109 days) | None | Inguinal hernia | Not available | Not performed | Prostacyclin, inhaled NO (iNO) | Prior to transplant | Mechanical Ventilation | 4 | Second transplant at 4 years; died at 5 years |
| 2 | Term | Respiratory distress, pulmonary hypertension | Birth | Patent foramen ovale | Posterior urethral valves | Ground glass opacities, enlarged pulmonary vessels | Suprasystemic right ventricular (RV) pressure, responsive to iNO | Nifedipine, iNO | No | NO and O2 via nasal cannula | 20 | Second transplanted at 4 years; alive at 16 years |
| 3 | 36 | None | 2 months (71 days) | Patent foramen ovale | None | Diffuse interstitial lung disease, associated cystic areas | Not performed | Milrinone, methylprednisolone, iNO | No | Mechanical Ventilation | 5 | Alive at 14 years |
| 4 | 34 | Poor feeding, abdominal distension at 3 days | 2 months (67 days) | Secundum atrial septal defect | None | Ground glass opacities, interstitial septal thickening | Suprasystemic RV pressure, responsive to iNO | Sildenafil, milrinone, iNO | No | Mechanical Ventilation | 5 | Died at 9 years |
| 5 | 34 | Apnea at 3 weeks | 3 months (92 days) | Patent foramen ovale | None | Ground glass opacities | Not performed | Sildenafil Prednisolone, iNO | At transplant | ECMO | 9 | Alive at 5 years |
| 6 | Term | Transient tachypnea, discharged home on O2 for 21 days | 7 months (212 days) | Patent ductus arteriosus | None | Ground glass opacities with septal thickening | Near systemic RV pressure, responsive to iNO | Sildenafil, methylprednisolone, iNO | Prior to transplant | Positive pressure ventilation via RAM cannula | 15 | Died at 18 months |
1
Boston US, Fehr J, Gazit AZ, Eghtesady P. Paracorporeal lung assist device: an innovative surgical strategy for bridging to lung transplant in an infant with severe pulmonary hypertension caused by alveolar capillary dysplasia. J Thorac Cardiovasc Surg 2013; 146: e42–43.
2
Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P. Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. American journal of medical genetics Part A 2014; 164A: 2013–2019.