The Specialist:
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.
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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.”
Traditional treatment:
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.”
Research breakthroughs:
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:
Get informed. To educate yourself about pectus, check out the Pectus Awareness and Support Foundation (pectus.com) and Mount Sinai (mountsinai.org).
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
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