Dr. Andrew Kaufman, an assistant professor of thoracic surgery at Mount Sinai, is an expert in chest wall disorders.
An assistant professor of thoracic surgery at Mount Sinai, Dr. Andrew Kaufman specializes in treating disorders of the chest wall — including pectus excavatum and pectus carinatum. He treats 50 patients a year for pectus.
Who’s at risk:
Despite the arcane-sounding name, pectus excavatum is a fairly common disorder. It affects about 1 in 400 babies born in this country.
“Pectus is the term we use to describe a congenital deformity of the chest wall,” Kaufman says. “The more common form is pectus excavatum, sometimes called funnel chest, in which the breast bone is pushed in toward the spine. Mild cases may hardly be noticeable, while very severe cases can affect the heart and lungs and diminish cardiorespiratory endurance.”
A particular process leads the pectus to develop. “What is happening is that the cartilage that connects the ribs to the breast bone overdevelops,” Kaufman says. “This overdevelopment of the cartilage ends up pushing the breast bone backwards. In severe cases, the heart can get displaced into the left chest.”
Babies are born with pectus, though the malformation becomes more obvious over time.
“By definition children are born with this, and it’s usually visible from an early age,” Kaufman says. “However, the chest can start indenting more and more during growth spurts, so the defect often becomes most noticeable during the teen years.” Adults can also experience more severe symptoms with aging, but the good news is that pectus remains treatable for patients of any age.
Pectus can present both a medical and cosmetic problem.
“On the severe side, pectus can lead to diminished lung and heart function,” Kaufman says. “People tend to say not to worry about the cosmetic aspect, but it can be hard on kids. It occurs during that vulnerable time of adolescence, when so much can be about fitting in.” Kids may start to begin avoiding activities that expose the condition, and avoid changing for gym or going swimming.
A family predisposition plays into some cases of pectus, though not all. “It does run in families, and about 30 to 40% of patients fit into this familial pattern,” says Kaufman. “There are also some other congenital syndromes that are associated with pectus, including Marfan’s syndrome.” Men have a higher risk of pectus than women.
Signs and symptoms:
Most cases of pectus present a straightforward diagnosis. “For the most part, this is a problem that is diagnosed visually,” Kaufman says. “Many infants are diagnosed shortly after birth, but even people who haven’t been diagnosed will often figure out what they have by Googling it. It’s a pretty dramatic look, so it’s usually visible to the layman’s eye.”
Severe pectus can cause a set of physiological symptoms. In more severe cases, patients can “experience a lack of endurance and stamina, chest pain and shortness of breath, especially with exercise,” Kaufman says. “However, the majority of patients have no symptoms beyond the visual presentation.”
Doctors have a range of treatment options for pectus, and the severity of the disease can determine what treatment is most appropriate. “For many patients, it’s appropriate just to do nothing,” Kaufman says. “Physiologically, most patients can live normal healthy lives without doing anything.”
There are active treatment options for patients with more severe forms of the disease. “One option is a suction-cup device that is worn externally that works like putting the chest in traction,” Kaufman says. “This works best for kids who are still developing and the device needs to be worn about 12 hours a day, usually at night.”
Other patients may be candidates for surgical correction. “The options are open surgery or the minimally invasive Nuss Procedure, which is our preferred technique,” says Kaufman. “The vast majority can be treated with a minimally invasive operation, but for extremely complex cases, we can do an open surgery in which we fracture and reset the breast bone and reset it in a healthier position.”
Doctors are looking for ways to use genetic testing to understand pectus better. “We’re planning on a sequencing project to look at affected people and family members so we can determine which genes are responsible for pectus,” Kaufman says. “We’re very excited about this research protocol, because we still have a lot to learn about this congenital disorder.”
Questions for your doctor:
For many patients and parents, the first question is, “Can this be fixed?” The answer is yes. If you’re newly diagnosed or experiencing symptoms, a good question is, “What’s the appropriate workup?” A lot of testing goes into evaluating pectus, including a CT scan, echocardiogram and pulmonary function test. If you are considering active treatment, ask “Am I a candidate for a minimally invasive surgery?”
“There’s nothing you can do to prevent pectus. It’s something you’re just born with,” Kaufman says. “It’s important to bear in mind that those who have a severe depression and anyone who has any symptoms at all should be evaluated for treatment.”
What you can do:
See an expert. “Because most doctors won’t have seen many cases of pectus, you do need to be seen by a doctor who has expertise in chest wall deformities,” Kaufman says.
Know your family history. More than half of pectus cases are randomly occurring, but 30-40% of patients have a family history of the disorder.
By the numbers:
– 1 in 400 newborns have a pectus.
– Two to three men have a pectus for every one woman with the disorder.
– 80% of pectus cases are identified in the first few years of life.
Source: Dr. Andrew Kaufman
This entry passed through the Full-Text RSS service – if this is your content and you’re reading it on someone else’s site, please read the FAQ at fivefilters.org/content-only/faq.php#publishers.