What lab tests to order for a patient with pectus carinatum?

Laboratory Tests for Pectus Carinatum Evaluation

Echocardiography is the primary laboratory test recommended for all patients with pectus carinatum to screen for associated cardiac abnormalities, particularly aortic root dilation and mitral valve prolapse. 1

Initial Diagnostic Workup

• Echocardiography: Essential for all patients with pectus carinatum

  • Evaluates aortic root dimensions and detects potential dilation
  • Screens for mitral valve prolapse (present in 3.2% of patients)
  • Assesses overall cardiac structure and function 1

• Electrocardiogram (ECG):

  • Evaluates for right ventricular hypertrophy or other cardiac conduction abnormalities 2
  • Should be performed alongside echocardiography

Additional Testing Based on Clinical Findings

If echocardiography reveals aortic root dilation or other findings suggestive of connective tissue disorders:

• Genetic testing:

  • FBN1 gene testing if Marfan syndrome is suspected 3
  • TGFBR1 and TGFBR2 gene testing if Loeys-Dietz syndrome is suspected 2

• Pulmonary Function Tests (PFTs):

  • Consider in patients with respiratory symptoms or severe chest wall deformity 4
  • Particularly important if the patient reports exercise intolerance or dyspnea

Rationale and Evidence

Research shows that pectus carinatum is often associated with underlying connective tissue disorders, particularly Marfan syndrome, Noonan syndrome, and other genetic conditions 5. A recent study found that 7.1% of patients with pectus carinatum had aortic root dilation, making echocardiography an essential screening tool regardless of symptoms 1.

The American College of Cardiology/American Heart Association guidelines recommend echocardiography for evaluation of patients with suspected connective tissue disorders that may present with chest wall deformities 2. Similarly, the American College of Medical Genetics recommends genetic testing when clinical features suggest an underlying syndrome 3.

Clinical Pearls and Pitfalls

• Important: Patient-reported symptoms like chest pain and palpitations (common in pectus carinatum) do not reliably predict abnormal echocardiographic findings, so testing should be performed regardless of symptom status 1

• Follow-up recommendations:

  • If echocardiography is normal: Repeat every 2-5 years 2
  • If aortic root dilation is detected: More frequent monitoring (every 6-12 months) 2
  • If genetic testing confirms Marfan syndrome: Annual echocardiograms and comprehensive imaging of the entire aorta every 2-3 years 2, 3

• Avoid unnecessary radiation: CT scans should be avoided for routine monitoring of pectus carinatum severity. Non-invasive external measurements or specialized body scanning can be used instead 6

By following this systematic approach to laboratory testing in pectus carinatum patients, clinicians can identify potentially serious associated conditions that require monitoring and intervention.