Rare syndrome can cause cardiac death

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.

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, say 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 also recommend brugada.org.