Pectus excavatum and carinatum are just two of a huge collection of conditions resulting from disordered connective tissue formation. Connective tissue includes bone, cartilage, tendons, ligaments and elastic tissues, among others. When something goes wrong during formation, the resulting tissue lacks the qualities of either strength or elasticity it should have, and its growth may be quite abnormal. Although medical science has located genes where errors can occur resulting in connective tissue disorder -- no underlying circumstance that causes it to happen in the first place has been identified. Such disorders may affect just a few or many areas of the body at once.

One relatively common syndrome which can include pectus as a symptom is Marfan Syndrome. It's suggested that Marfan may be present in one of every 5000 to 10,000 births. And if a parent has the condition, chances are 50/50 of a child having the same tendency. Certainly, while "isolated" PE or PC do indeed reflect a problem with connective tissue formation, not all people with pectus have the full range of other connective tissue changes that characterise Marfan. But because Marfan can involve weakness of major blood vessels, with a potential for rupture, it is important that families with pectus find out if Marfan is also involved. Unfortunately, we are finding that few doctors even bring up the possibility!

There are some superb sites online which give all the info (and support!) you could want on Marfan Syndrome. After the brief description below, follow the links on this page to learn what you need before asking your GP or surgeon to please check for Marfan in your family member with pectus.

Just over 100 years ago, a French pediatrician, Antoine Marfan, described a 5-year-old patient with unusually long and thin limbs, fingers and toes, poor muscle development, and an abnormally curved spine. Over the years since then, doctors have continued to see this collection of symptoms occurring together, along with several more. These include eye problems, like nearsightedness, dislocation of the lens, and even detachment of the retina. Pectus excavatum and carinatum are both more common in folks with Marfan than in the rest of the population. Joints may be unusually loose, and stature may noticeably tall and thin.

The symptoms of most concern involve blood vessel weakening, potentially leading to rupture under strain (including during pregnancy), and faulty heart valve behaviour, including mitral valve proplapse. The aorta, the big artery that carries blood from the heart, is often wider and less strong than normal. The "stretched" aortic root area can get worse through time, causing the valve below to leak, or the aorta walls to split ("dissection").

With early diagnosis in Marfan Syndrome, appropriate medical management can ensure a normal long life. Above all, proper management means regular monitoring of the cardiovascular system and eyes. Should developing problems be detected, they can often be effectively nipped in the bud with surgery. This can range from correction of pectus or severe scoliosis, to repair of faulty heart valves and blood vessels, to surgical treatment of eye problems. Because raised blood pressure is a real threat if blood vessels are weakened, regular BP monitoring is important -- especially during pregnancy for a Marfan mother. If heart vessels are known to be weak, use of beta-blocker drugs can keep the BP down, while a Caesarian birth further reduces strain on the mother's heart. Strenuous or contact sports should be avoided when aortic weakness is involved.

There is as yet no single test for identifying Marfan Syndrome. Although in its extreme form the "Marfan phenotype" (=observable characteristics) is obvious, there are many folks who show such mild symptoms that the condition is never picked up even by their GPs. And there are as well many other connective tissue disorders which share some of the symptoms. Because connective tissue disorders CAN include blood vessel weakness, it is important to have a check-up even if you just suspect it might apply to your family.

A thorough physical examination by a doctor familiar with Marfan Syndrome should include something like the following:

an echocardiogram -- to check on heart function and valve behaviour (done by a cardiologist);

a slit-lamp eye exam -- to check for lens or retina problems (done by an opthalmologist);

a skeletal exam -- to measure limb proportions, check for spinal or chest deformities, and identify any other bone formation markers of connective tissue disorder (can be done by a GP experienced with symptoms of Marfan Syndrome);

a complete family medical history -- to check for the appearance of related symptoms in other family members.

This last is something YOU can begin putting together right now. Draw up a "medical family tree", going back several generations and out to include all close cousins. Note down every medical detail you can find, from causes of death, to birth problems, to health problems in life: