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From the Research
Causes of Pectus Excavatum
The causes of Pectus excavatum are not fully understood, but several factors have been proposed:
- Developmental factors, genetics, and physiologic abnormalities are associated with the condition 1
- The condition is often idiopathic, meaning that the cause is unknown 2
- Abnormal positioning of the major pectoral muscle may be a potential causative factor 3
- The primordial defect leading to the deformation of the anterior chest wall in Pectus excavatum is related to the costal hyaline cartilage structure and function 4
- Genetic studies may be the most promising way to understand the exact mechanism of Pectus excavatum's origin and pathogenesis 4
Associated Factors
Several factors are associated with Pectus excavatum, including:
- Family history, with some cases fitting Mendelian inheritance, although no genetic cause has been described yet 5
- Syndromal or connective tissue disorders, such as Marfan Syndrome and Noonan Syndrome 5
- Other symptoms, such as lack of endurance, shortness of breath with exercise, or chest pain, which are frequent in patients with Pectus excavatum 1, 2