A small sample size test found that in at least some cases, 37% of individuals have an affected first degree family member. As of 2012, a number of genetic markers for pectus excavatum have also been discovered.It was believed for decades that pectus excavatum is caused by an overgrowth of costal cartilage, however people with pectus excavatum actually tend to have shorter, not longer, costal cartilage relative to rib length.Pectus excavatum can be present in other conditions too, including Noonan syndrome, Marfan syndrome and Loeys–Dietz syndrome as well as other connective tissue disorders such as Ehlers–Danlos syndrome. Many children with spinal muscular atrophy develop pectus excavatum due to their diaphragmatic breathing. Pathophysiology
Physiologically, increased pressure in utero, rickets and increased traction on the sternum due to abnormalities of the diaphragm have been postulated as specific mechanisms. Because the heart is located behind the sternum, and because individuals with pectus excavatum have been shown to have visible deformities of the heart seen both on radiological imaging and after autopsies, it has been hypothesized that there is impairment of the function of the cardiovascular system in individuals with pectus excavatum. While some studies have demonstrated decreased cardiovascular function, no consensus has been reached based on newer physiological tests such as echocardiography of the presence or degree of impairment in cardiovascular function. However, a 2016 meta-analysis found significant evidence that surgical correction of pectus excavatum improves patient cardiac performance. Diagnosis
Pectus excavatum is initially suspected from visual examination of the anterior chest.
The surgery is performed under general anesthesia and takes about an hour. The surgeon makes an incision of approximately seven centimetres, prepares the customised space in the chest, inserts the implant deep beneath the muscle, then closes the incision. Post-operative hospitalization is typically around three days.The recovery after the surgery typically requires only mild pain relief. Post-operatively, a surgical dressing is required for several days and compression vest for a month following the procedure. A check-up appointment is carried out after a week for puncture of seroma. If the surgery has minimal complications, the patient can resume normal activities quickly, returning to work after 15 days and participating in any sporting activities after three months. Lipofilling
The "lipofilling" technique consists of sucking fat from the patient using a syringe with a large gauge needle (usually from the abdomen or the outer thighs), then after centrifugation, the fat cells are re-injected beneath the skin into whichever hollow it is needed to fill. This technique is primarily used to correct small defects which may persist after conventional surgical treatment. Epidemiology
Pectus excavatum occurs in an estimated 1 in 150 to 1 in 1000 births, with male predominance (male-to-female ratio of 3:1). In 35% to 45% of cases family members are affected. Etymology
Pectus excavatum is from Latin meaning hollowed chest. It is sometimes referred to as sunken chest syndrome, cobblers chest or funnel chest. Society
American Olympic swimmer Cody Miller (born 1992) opted not to have treatment for pectus excavatum, even though it limited his lung capacity.