The Epidemiology behind Pectus Excavatum: Clinical Study and Review of the Literature

Pectus excavatum (PE) is a funnel-shaped indentation of the sternum and is the most common deformity of the chest wall. It is associated with syndromic diseases but can occur as an isolated form. Familial occurrence is assumed in up to 40% of cases, but large-scale studies are lacking. Most of the data are obtained from case reports which postulate autosomal recessive, dominant with reduced penetrance, X-linked, and multifactorial patterns of inheritance. No monogenetic cause has been identified to date. This study was designed to provide basic information on the epidemiology, family history, and comorbidity for a large cohort of isolated PE and to show that there is an inheritance pattern for PE that indicates a genetic background. A retrospective study was done using a paper-based questionnaire for all PE patients attending two specialized centers for chest wall deformities. Patients with isolated PE were included and asked to provide information on family history and comorbidities. Family history was available for 78 patients. A positive family history was found in 42 patients (54%) with a total of 53 affected family members. The described family histories indicate an underlying genetic cause for PE. Identification of the genetic factors may contribute to characterize patients who are at risk of inheriting isolated PE.