HomeGeneticsConditionAlveolar capillary dysplasia with misalignment of pulmonary veins
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Alveolar capillary dysplasia with misalignment of pulmonary veins
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Alveolar capillary dysplasia with misalignment of pulmonary veins

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, life-threatening congenital disorder that severely restricts oxygen exchange and blood flow in the lungs. Affected infants typically experience severe respiratory distress shortly after birth due to underdeveloped and improperly positioned blood vessels.

Overview

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (alveolar capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled.

In ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide.

Other abnormalities of the blood vessels in the lungs also occur in ACD/MPV. The veins that carry blood from the lungs into the heart (pulmonary veins) are improperly positioned and may be abnormally bundled together with arteries that carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue in the walls of the pulmonary arteries may be overgrown, resulting in thicker artery walls and a narrower channel. These changes restrict normal blood flow, which causes high blood pressure in the pulmonary arteries (pulmonary hypertension) and requires the heart to pump harder.

Symptoms & Clinical Features

Infants with ACD/MPV typically develop respiratory distress within a few minutes to a few hours after birth. Common symptoms and associated abnormalities include:

  • Shortness of breath
  • Cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails caused by a lack of oxygen in the blood
  • Abnormal twisting (malrotation) of the intestine or other malformations of the gastrointestinal tract
  • Cardiovascular and genitourinary abnormalities

Without lung transplantation, infants with ACD/MPV have not been known to survive past one year of age, and most affected infants live only a few weeks.

Frequency

ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 infants with this disorder have been identified worldwide.

Causes & Genetics

ACD/MPV can be caused by genetic changes in specific regions of DNA:

  • Mutations in the FOXF1 gene: The protein produced from this gene is a transcription factor that helps control the activity of many other genes. It is important in the development of the lungs, their blood vessels, and the gastrointestinal tract. Mutations result in an inactive protein that cannot regulate normal development.
  • Deletion of genetic material on the long arm of chromosome 16 in a region known as 16q24.1: This region includes several genes, including the FOXF1 gene. Deletion of one copy of the FOXF1 gene reduces the production of the FOXF1 protein, causing the main features of ACD/MPV. Loss of other genes in this region likely causes additional abnormalities, such as heart defects, seen in some infants.

In about 60 percent of affected infants, the genetic cause of ACD/MPV is unknown.

Associated Genes and Chromosomes

  • FOXF1
  • Chromosome 16

Inheritance Pattern

ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. When the condition is caused by a FOXF1 gene mutation or deletion, a single copy of the altered gene is sufficient to cause the disorder. Individuals with ACD/MPV do not pass the genetic change on to their children because they do not live long enough to reproduce.

A few families have been identified in which more than one sibling has ACD/MPV. It is not clear how ACD/MPV is inherited in these families because no genetic changes have been identified.

Other Names for This Condition

  • ACD
  • ACD/MPV
  • ACDMPV
  • Alveolar capillary dysplasia
  • Congenital alveolar capillary dysplasia
  • Familial persistent pulmonary hypertension of the newborn
  • Misalignment of the pulmonary vessels

Frequently Asked Questions

Infants with ACD/MPV typically develop severe respiratory distress shortly after birth. Critical warning signs include rapid and labored breathing, blue discoloration of the skin or lips (cyanosis), low oxygen levels that do not improve with supplemental oxygen, and signs of pulmonary hypertension, such as a heart murmur or an enlarged heart on imaging. These symptoms necessitate immediate intensive care.
Prenatal diagnosis of ACD/MPV is challenging because the lung abnormalities may not be evident on routine prenatal ultrasounds. In some cases, severe pulmonary hypertension or other cardiac anomalies might be suspected during fetal echocardiography. If there is a family history of ACD/MPV, genetic testing of the parents can identify known gene mutations, but this is not a routine screening. Postnatal diagnosis is usually confirmed through lung biopsy.
Unfortunately, there is currently no cure for ACD/MPV. Treatment focuses on supportive care to manage respiratory distress and pulmonary hypertension, often involving mechanical ventilation, oxygen therapy, and medications to dilate blood vessels in the lungs. In some cases, lung transplantation may be considered, but it is a complex and high-risk procedure. The prognosis for infants with ACD/MPV is generally very poor, with most not surviving beyond the neonatal period due to severe lung and heart complications.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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