Rare Pulmonology News

Disease Profile

Unilateral absence of a pulmonary artery

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Isolated unilateral absence of a pulmonary artery; Isolated UAPA; Pulmonary artery, isolated unilateral absence of;

Summary

[if gte mso 9]> Unilateral absence of the pulmonary artery (UAPA) is a heart defect that is present from birth. The pulmonary artery takes blood from the heart to the lungs. In the absence of a pulmonary artery, other blood vessels compensate by supplying blood to the lungs. Pressure can build inside these vessels and lead to heart and lung complications. UAPA can be left sided or right sided. It most often occurs alone, but can occur with other heart anomalies and birth defects. Signs and symptoms include repeat lung infections, lower exercise tolerance, shortness of breath, chest pain, and fluid in the lungs. Risk for these symptoms increase with age. Complications of UAPA include, hemoptysis (coughing up blood), respiratory hemorrhage, and high blood pressure in the arteries to the lung (pulmonary hypertension). Serious complications may be triggered by stress on the body, such as pregnancy and altitude sickness.[1][2][3][4]

Treatment

Treatment options for unilateral absence of the pulmonary artery (UAPA), include observation (symptom-free, low risk cases), surgery to improve blood flow between the heart and lung (shunting or re-connecting existing arteries to the lung), surgery and/or medications to address lung complications, and embolization (blocking off) of dangerous blood vessels. Surgical approach is individually tailored based upon the person’s condition and anatomy. Early treatment (in infancy) can protect against late complications and improve lung development.[1][2][3][4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • PubMed is a searchable database of medical literature and lists journal articles that discuss Unilateral absence of a pulmonary artery. Click on the link to view a sample search on this topic.

      References

      1. Mazurek B, Szydlowski L, Mazurek M, Kohut J, Glowacki J. Rare cardiovascular anomaly: congenital unilateral absence of the pulmonary artery. Arch Med Sci. 2013 Dec 30; 9(6):1162-4. https://www.ncbi.nlm.nih.gov/pubmed/24482666. Accessed 2/26/2014.
      2. El-Hattab AY, Calcaterra D, Parekh KR, Rossi NP, Davis JE, Turek JW. Semiautologous repair for congenital discontinuous right pulmonary artery. 2013 Dec; 96(6):2230-1. https://www.ncbi.nlm.nih.gov/pubmed/24296194. Accessed 2/26/2014.
      3. Ten Harkel AD, Blom NA, Ottenkamp J. Isolated unilateral absence of a pulmonary artery: a case report and review of the literature. Chest. 2002 Oct; 122(4):1471-7. https://www.ncbi.nlm.nih.gov/pubmed/12377882. Accessed 2/26/2014.
      4. Kruzliak P, Syamasundar RP, Novak M, Pechanova O, Kovacova G. Unilateral absence of pulmonary artery: pathophysiology, symptoms, diagnosis and current treatment. Arch Cardiovasc Dis. 2013 Aug-Sep; 106(8-9):448-54. https://www.ncbi.nlm.nih.gov/pubmed/23938302. Accessed 2/26/2014.

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