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ACDMPV Overview

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rarely diagnosed lethal lung developmental disorder in newborns that is present at birth (congenital). Infants experience severe, life-threatening breathing problems (respiratory distress) and high blood pressure in the arterial blood vessels of the lungs (pulmonary hypertension). These problems may occur within a few hours or a couple of days after birth. Almost all infants with this condition die within the first month of life. Very rarely, the disorder presents later (late-onset form).

In most affected children, AVDMPV is caused by point mutations involving the FOXF1 gene or by a loss of genetic material. The disorder is usually not inherited but there are very rare instances where ACDMPV has been reported to run in families and can be inherited.

Within the first few days after birth, infants with ACDMPV develop severe breathing problems and lack of oxygen in the blood (hypoxemia). They experience shortness of breath and cyanosis, a condition marked by abnormal bluish discoloration of the skin that occurs because of low levels of oxygen in the blood. High blood pressure in the arterial blood vessels of the lungs (pulmonary hypertension) also occurs. Breathing issues become progressively worse and most infants experience respiratory failure. Very rarely, infants may not show signs of the disorder until weeks or even months after birth, usually when pulmonary hypertension of variable severity is noted.

In infants with ACDMPV, the alveolar capillaries fail to develop properly. Alveolar refers to the alveoli, the millions of tiny air sacs that are scattered throughout the lungs. The capillaries are very tiny blood vessels that connect the alveoli to larger blood vessels. When a person breathes in air, oxygen travels to the lungs and into the alveoli. It passes through the walls of the alveoli into the capillaries and into the bloodstream to be carried throughout the body. In addition, carbon dioxide passes from the bloodstream into the alveoli to be sent out of the body when a person breathes out. Because the alveoli capillaries do not develop properly in infants with ACDMPV, sufficient levels of oxygen cannot be delivered to the tissues of the body and not all of the carbon dioxide can be expelled from the body. The pulmonary veins are described as being misaligned or mispositioned.

Various treatments have been tried in infants with ACDMPV, including mechanical ventilation, nitric oxide and extra corporeal membrane oxygenation (ECMO). These are standard treatments for infants with other disorders that cause respiratory distress, but they have been ineffective in treating infants with ACDMPV. In a few older infants with milder or late onset ACDMPV, lung transplantations have been successful.

Source: https://rarediseases.org/rare-diseases/alveolar-capillary-dysplasia/