Dear Dr. Roach • Our mother passed away at 91, after decades of medical problems. She had complained over the years to many doctors of chest pains, difficulty breathing and difficulty swallowing. After she passed, we saw in her medical records the diagnoses of “Kommerell diverticulum” and “excavatum deformity.” Can you explain these? Are these hereditary? — R.L.
Answer • I am sorry to hear about your mother.
A Kommerell diverticulum is a congenital abnormality of the arch of the aorta. “Congenital” means she was born with it. The aorta is the largest blood vessel in the body, and it takes the blood directly from the left ventricle and supplies the entire body with oxygenated blood from the lungs. As a large vascular structure, this defect can compress the airway, causing shortness of breath. It also can affect the esophagus, causing swallowing difficulties. Chest discomfort is frequently associated with this structure. It is certainly possible that your mother’s symptoms were due to her Kommerell diverticulum. In 2019, Kommerell’s diverticula are sometimes operated on, depending on their size and the symptoms they produce.
One concern is that they can have a dissection, which is a defect in the wall of the blood vessel, tearing two layers apart. They can even rupture if they are large enough.
Pectus excavatum — Latin for “caved-in chest” — is another congenital abnormality, this time of the chest wall, giving a sunken appearance of the midchest. Pectus excavatum may occur by itself, but is associated with Marfan syndrome. There are also other, less common syndromes.
Marfan syndrome and Kommerell’s diverticula can occur together. Given the presence of both the pectus excavatum and the Kommerell’s diverticulum, I would have expected the physicians to consider the diagnosis of Marfan syndrome.
Unfortunately, the genetics of Marfan syndrome are complex and the role of genetic testing is more complicated than simply wondering whether you and your siblings should be tested for Marfan. Even a positive result on genetic testing does not guarantee a diagnosis of Marfan syndrome.
I can’t give you a clear recommendation beyond the advice to find a physician with expertise in Marfan syndrome. A careful exam is necessary to make the diagnosis. A genetic counselor may also be of value.
Given that your mom lived to 91 — and you and your siblings are presumably in your 50s or older — the likelihood that any congenital condition your mother may have had will cause you medical problems is small and getting smaller over time.
Dr. Roach writes • An infectious disease doctor wrote to remind me that Babesia, which causes the disease babesiosis I recently wrote about, is a parasitic, not a bacterial, species. Babesiosis is similar to malaria, another parasite disease. Both of these parasites can grow inside the blood cell and be identified by a laboratory. I am gratified by the close attention to my column even as I admit the improper terminology was mine.
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