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School of Medicine
Cardiovascular Report - The Puzzling Heart
Cardiovascular Report Spring 2010
The Puzzling Heart
Date: May 15, 2010
With improved diagnostic tools, cardiac sarcoid comes into focus.
Cardiologists James Mudd and Alan Cheng are sharpening their diagnostic tools against cardiac sarcoid.
Zena Brown first noticed the bump on her tongue while stopped at a suburban Maryland traffic light in June 2008. She adjusted the rearview mirror to see a modest gumball of a lesion on the side of her tongue. She felt no pain, and it struck Brown as a small nuisance. Still, the 40-something mother of two thought it worth checking out.
She was about to embark on a series of 18 medical visits before finding a reliable answer.
Brown’s dentist referred her to an oral surgeon, who proclaimed the mystery “out of my league.” He sent her to an oral surgeon with a special interest in oncology, who had a hunch this might be more than a nuisance. The specialist ordered blood work, and was pleased to learn the bump was not cancerous. But what was it?
Suspecting sarcoidosis—the inflammatory disease characterized by granular clumps of cells growing in key areas of the body—the specialist ordered more targeted blood work. Results? Inconclusive.
Amid the deepening mystery, Brown’s health took a turn for the worse. Climbing stairs left her increasingly breathless. In her weekly dance group, Brown could maintain her routine for only about 30 seconds. She spent more time in bed yet could sometimes feel her heart racing. It was time to check it out.
Brown had been on the treadmill for less than a minute when her cardiologist suddenly announced, “We’re stopping the test.” Under the slightest demand, her heart rate dramatically slowed.
Finally, nearly 11 months after the appearance of the seemingly innocuous tongue lesion, Brown’s symptoms came together in a way that she and her physicians could hang their hats on.
In the cath lab at The Johns Hopkins Hospital in late May 2009, physicians found a large blood clot, advanced cardiomyopathy, serious ventricular tachycardia and excess fluid around the heart. Brown’s ejection fraction hovered at 25 percent. The workup went further with imaging studies that included both MRI and PET scans.
Pulling the data together, cardiologists Alan Cheng and James Mudd concluded that Brown indeed had the very disorder that one specialist suspected the previous July: cardiac sarcoidosis.
Cheng and Mudd completely understood why a firm diagnosis had remained so elusive and why earlier tests had come up empty. Because of the granular nature of sarcoid’s damage, both biopsy and imaging tests could easily miss telltale signs. Indeed, far too many cardiac sarcoid cases are only confirmed by autopsy, after the patient has died from a nonspecific form of sudden cardiac death.
In Brown’s case, the specialists came together on a lifesaving fix. They implanted a biventricular pacemaker, which provided immediate relief. Today, Brown’s ejection fraction has roared back to a healthy 65 percent. “Oh, my goodness,” she says. “I feel so much better.”
The broader form of sarcoidosis, say Cheng and Mudd, afflicts some 135,000 Americans, the vast majority of them black. It typically targets the lungs, but autopsies have shown that nearly a third of patients also had it in their hearts.
“It’s an underdiagnosed condition,” says Cheng, “because we never really had very good tools to diagnosis it.” But now, say Cheng and Mudd, refined imaging techniques with MRI are proving nearly as accurate as autopsy confirmations. To diagnose more patients in time, the duo has opened a cardiac sarcoid clinic.