Pectus Excavatum Alterations
Cardiopulmonary Alterations
- In patients with osteogenesis imperfecta and pectus excavatum, the restrictive respiratory pattern may be more severe, with alteration of ventilatory mechanics located mainly in the lateral part of the thorax 1
- Pectus excavatum can be associated with mitral valve prolapse (MVP), especially in patients with connective tissue syndromes 2, 3
- In patients with Noonan syndrome, pectus excavatum can be part of the phenotypic manifestations along with cardiac alterations such as pulmonary stenosis 4
Special Considerations
- In patients with kyphoscoliosis and pectus excavatum, there may be cardiac migration to the left hemithorax, limiting working angles during surgical procedures 5, 6
Evaluation and Follow-up
- A complete cardiac evaluation should be performed in cases where association with genetic syndromes (such as Marfan or Noonan) is suspected 3, 4, 7
Management of Pectus Excavatum with Associated Genetic Syndromes
Initial Evaluation and Indications for Treatment
- Complete cardiac evaluation is mandatory when genetic syndromes are suspected, particularly in patients with connective tissue disorders, as pectus excavatum may be a phenotypic feature requiring comprehensive cardiac workup, according to the American Heart Association 8
Special Clinical Contexts
- MRI can facilitate surgical chest wall reconstruction planning and is particularly useful for pectus excavatum diagnosis and management, as recommended by the American College of Radiology 9
- CT with IV contrast can provide detailed anatomic assessment when surgical planning requires precise measurements, as suggested by the American College of Radiology 10
- Atelectasis and pleural effusion are potential complications of pectus excavatum repair, as reported in the Journal of the American College of Radiology 9
Management of Pectus Excavatum
Non-Surgical Management
- Low-resistance exercise is recommended to improve chest wall stability by increasing muscle tone, as suggested by the Genetics in Medicine guideline 11
Evaluation and Management of Pulmonary Vascular Congestion in Patients with Pectus Excavatum
Genetic Syndromes and Cardiac Assessment
- In individuals with Noonan syndrome who also have pectus excavatum, clinicians should actively evaluate for pulmonary valve stenosis and right‑ventricular outflow tract obstruction, as these lesions frequently coexist and can contribute to cardiopulmonary dysfunction. 12
Echocardiographic Evaluation
- Transthoracic echocardiography is the first‑line imaging tool for patients with pectus excavatum to (a) assess right‑atrial and right‑ventricular size for compression effects and (b) exclude true pulmonary hypertension. 13
- The study recommends estimating pulmonary artery pressure using tricuspid regurgitation velocity during echocardiography to differentiate mechanical compression from genuine pulmonary hypertension in this population. 13
Recognition of True Pulmonary Hypertension
- Identification of elevated pulmonary artery pressures or other echocardiographic signs of pulmonary hypertension in a patient with pectus excavatum indicates advanced cardiopulmonary disease that warrants a separate diagnostic and therapeutic pathway beyond surgical correction of the chest wall deformity. 14
- Such echocardiographic evidence of pulmonary hypertension is associated with worsened prognosis, emphasizing the need for comprehensive cardiac work‑up and appropriate referral. 14