ACD typically presents in newborn babies within hours of birth as rapid and labored breathing, blue-colored lips or skin, quickly leading to respiratory failure and death.
Atypical forms of ACD have been reported with initially milder symptoms and survival of many months before the onset of respiratory failure or lung transplantation.
[1] There is evidence for connections between pulmonary arteries and systemic vessels, which would additionally contribute to poor blood oxygenation.
Standard therapy, which includes mechanical ventilation, pulmonary vasodilators, and possibly ECMO, provide only temporary improvement in symptoms with disease progression returning within hours.
If an echocardiogram is performed, marked thickening of the right ventricle will be seen, resulting from highly elevated pulmonary blood pressure.
Babies who have persistent symptoms that are poorly relieved by standard therapies for neonatal pulmonary hypertension is commonly observed in ACD.
[1] Babies born with ACD usually have other congenital abnormalities affecting the heart, the intestines, urinary system, or genitals.
[citation needed] The gold standard for ACD diagnosis is by examination of lung tissue under a microscope.
If ACD is suspected early, examination of tissue from lung biopsy results in the quickest diagnosis.
As not all disease-causing mutations are known, false negatives or results of uncertain significance are possible with genetic testing.
[2] There are no characteristic pattern of routine lab results or imaging findings that allow definitive diagnosis of ACD.
[1] For infants with atypical ACD who initially had milder symptoms and present at months of life, there can be better response to therapy.