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Who Is At Risk For Pectus Carinatum & Is There A Blood Test For It?

A family history of the disorder or chest wall deformities increases the risk of the condition. All other disorders such as Marfan syndrome enhances the risk of pectus.1

Pectus carinatum occurs more frequently in people who have a specific problem such as Ehlers-Danlos syndrome, metabolic disorders, such as homocystinuria, and chromosomal abnormalities.2

No particular clinical study or blood test helps identify pectus carinatum but radiological assessment (x-ray) may help assess the severity.3,4

Who Is At Risk For Pectus Carinatum?

Despite genetic factors, the other possible causes include:

Abnormal Cartilage Growth- Cartilages are composed of specialized cells used to coat the surface in the joints and helps developing bones. However excessive growth often results in cosmetic abnormality.

Cartilage Content Anomalies – Cartilages typically include enhanced water content, subsequently leading to inflammation of the matrix, and increased metabolic activity can lead to pectus carinatum.1

Pectus carinatum occurs more frequently in patients who have genetic disorders. An individual having a family history with this disorder or other underlying deformities can increase the risk of the condition. Certain conditions of pectus are diagnosed in early infancy however this might be seen with premature bone fusion or other cardiovascular diseases.

A study shows that pectus is seen more in whites compared to other ethnic groups. But it is also associated with the below syndromes

A wide range of skeletal malformations affect Marfan Syndrome patients and one such condition is pectus carinatum

Ehlers Danlos syndrome, an inherited connective tissue disorder and may have pigeon chest.

metabolic disorders, such as homocystinuria

chromosomal abnormalities, an extra copy of chromosome 21 due to Down syndrome

unusual growth, development, shape, or uprightness of the bones and cartilage due to Morquio syndrome often hinders the growth and result in dwarfism.

Rickets, a disorder caused by the deficiency of vitamin D, include prominent costochondral junctions producing pigeon chest deformity.2

Is There A Blood Test For Pectus Carinatum?

The diagnosis of pectus carinatum is usually through clinical trial after careful physical examination by your doctor. Chest wall malformations are evident in infancy, but it may also develop in children during growth spurts. As the deformity is very visible, it can be easily noticed by the parents but can be confirmed by the vision through chest examinations.

There is no specific blood test to identify the deformity but visual assessment through x-ray or CT scan to see how the breastbone is growing. This can also assess the severity of the abnormality and identify other related complications such as scoliosis of the spine. Chest CT scan is the best radiological test used to get a more sensitive assessment of the pectus carinatum.

However, in some instances, a blood test can help rule out genetic causes such as Marfan syndrome and Noonan syndrome. Mild cases of this condition do not require treatment, but treatment is recommended to improve self-esteem.3,4

Pectus Carinatum is an abnormal development of the sternum and the rib cage where the breastbone caves in. The pressure on the ribs causes the chest to sink and it is also referred to as pigeon shaped chest or keel-shaped chest.

This is a rare condition, but the exact cause of the deformity is not known. Too much growth of the breastbone is one of the possible factors’ pigeon chest. Some studies show that pectus carinatum also happens following open-heart surgery.


  1. Meadows-Fernandez, A. Rochaun. “Everything You Should Know About Pectus Carinatum.” Healthline, Healthline Media, 3 Jan. 2019, www.healthline.com/health/pectus-carinatum#causes.
  2. “Pectus Carinatum (Pigeon Chest): Symptoms, Causes, and Treatment.” Medical News Today, MediLexicon International, www.medicalnewstoday.com/articles/320836#types.
  3. “Pectus Carinatum (Pigeon Chest) – Children’s Health Plano.” Children’s Health – Making Life Better for Children in Texas, www.childrens.com/specialties-services/conditions/pectus-carinatum.
  4. “What Is the Role of Lab Testing in the Diagnosis of Pectus Excavatum?” Latest Medical News, Clinical Trials, Guidelines – Today on Medscape, 8 Nov. 2019, www.medscape.com/answers/1004953-31940/what-is-the-role-of-lab-testing-in-the-diagnosis-of-pectus-excavatum

Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:February 3, 2021

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