Medical Mystery: After he fainted, man’s diagnosis unraveled a frightening family history
A 60-year-old man came to the emergency department after he passed out in public. According to bystanders, the fall happened so quickly that no one was able to catch him before he hit the ground and sustained a facial injury.
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A 60-year-old man came to the emergency department after he passed out in public. According to bystanders, the fall happened so quickly that no one was able to catch him before he hit the ground and sustained a facial injury.
In the ED, he was awake, but the fainting spell caused the man to break his nose. We gave him medication for the pain.
He reported having a fever for several days before his fainting. Blood work and a CT scan were ordered, along with a standard electrocardiogram. Results of the testing indicated the man had an infection, which was in line with his symptoms.
When we returned to his ED room after the testing, the man experienced a life-threatening heart rhythm called torsades de pointes, or “twisting of the points.” This particular type of tachycardia occurs when the heart’s two lower chambers beat faster than the upper chambers. He went into cardiac arrest because of the erratic rhythm in his heart.
His care team quickly administered one electrical shock to his heart and began CPR until his heart returned to its normal rhythm. The team continued to monitor the man closely.
This serious development in symptoms signaled to the doctors that something more than an infection was going on. So what could it be?
Solution:
We took a closer look at the electrocardiogram and the man’s family history. The man had passed out two other times in a similar situation when he had a fever. Further investigation revealed several members of his family suffered unexplained deaths while young.
We determined that the man had a genetic condition known as long QT syndrome. The QT interval is a measurement on the electrocardiogram used to assess electrical properties of the heart. When it is longer than it should be, the result can be lethal heart rhythms, passing out, and sudden death.
There are three main types of long QT syndrome, each with different triggers. One such trigger is fever, as was the case with this patient. In addition, long QT syndrome is passed on from generation to generation in an autosomal dominant fashion, meaning that there is a 50 percent chance of passing it along. This explained the unexpected deaths of several of the man’s family members.
The man was treated with beta blockers to prevent abnormal heart rhythms, and an internal cardioverter defibrillator, to restore normal heart rhythm in the event he suffers another life-threatening arrhythmia. We also treated him with antibiotics to clear up a urinary tract infection. He was discharged from the hospital three days later.
The man’s case illustrates why it is important not to ignore the following signs:
Passing out without any warning.
Passing out with fever, from startling noises, during sleep, or with beginning new medications.
Any passing out that appears to bystanders like a seizure.
Family history of unexpected death in otherwise young, healthy people.
The man’s case was unique in that typically it is the younger generation that presents with passing out or sudden death, which leads to genetic testing of the older generations. In this instance, the diagnosis of the entire family was made by looking backward.
Jennifer L. White, MD, FACEP, is a clinical associate professor in the department of emergency medicine at Sidney Kimmel Medical College at Thomas Jefferson University, and Melanie Root, MD, is a second-year resident in the emergency department at Thomas Jefferson University Hospital.