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Dear Dr. Roach: Please discuss Brugada syndrome. Three members of my family died from it before we finally got a diagnosis. Where does it come from?

V.K.

Dear V.K.: Brugada syndrome is an inherited, genetic condition. It seems to be caused by an abnormality in the genes that code for sodium channel proteins in the heart. Brugada syndrome patients have an abnormal electrocardiogram and are at increased risk for serious abnormal rhythms of the heart, which can lead to sudden cardiac death. It is rare in the United States, being more common in people of Asian descent, and is much more common in men than in women.

People with first-degree family members (parent, child or sibling) affected by Brugada syndrome should undergo screening, which includes a history, examination and electrocardiogram. There is genetic testing available; however, the usefulness of this screening is not clear, as there are several types of mutations and not everyone with the mutation is at risk for developing the rhythm problems. Since Brugada pattern EKGs may not show up until later in life, EKG screening for close relatives is recommended every year or two until age 50 or so, according to some experts.

People with Brugada pattern on EKG and a history of abnormal heart rhythm are treated with an AICD (automated implantable cardioverter-defibrillator), which can sense and treat an abnormal rhythm immediately, and has been proven to save lives. People who have Brugada pattern but have never had symptoms generally are not treated. They should be carefully monitored and should promptly report symptoms that may otherwise be thought of no significance, including a simple faint, as this may prompt treatment in someone with Brugada pattern.

Further, some medications need to be avoided (see brugadadrugs.org) by people with the syndrome. I recommend brugada.org for information and to support research.

Dear Dr. Roach: I had bronchiectasis for many years before being diagnosed. Two doctors have different opinions on the best way to treat it so that it won’t get any worse. What is your opinion on treatment? How bad can it get?

V.K.

Dear V.K.: Bronchiectasis is a chronic lung disease similar to chronic obstructive pulmonary disease. Bronchiectasis is diagnosed by findings on X-ray and CT scanning in people with symptoms (cough and sputum production). Many underlying conditions can lead to bronchiectasis. It is much more common in people older than 60, and is seen more often in women than in men. It runs from mild to quite severe.

Risk factors for developing bronchiectasis include rheumatologic diseases, such as rheumatoid arthritis; immune system diseases, especially deficiencies in antibodies; a history of having childhood infections, such as pneumonia or measles; and anatomical abnormalities. It also can be seen in people with cystic fibrosis.

Exacerbations of bronchiectasis are treated with antibiotics, and these are generally continued for 14 days, which is longer than needed for most people.

Treatment to prevent worsening of bronchiectasis depends on how severe it is and whether there is an underlying cause that can be treated. If there is not a treatable underlying cause, severe bronchiectasis may be treated with oral or inhaled antibiotics. This therapy is reserved for people who have three or more exacerbations per year, and should be prescribed only by an expert in this disease. Inhalers, such as albuterol or steroids, are used only occasionally for bronchiectasis, as opposed to their use in COPD treatment, in which they are a mainstay of therapy.

Pulmonary physical therapy and pulmonary rehabilitation are useful and probably underutilized for bronchiectasis.

Email questions to ToYourGoodHealth@med.cornell.edu.

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