During a routine exam 10 years ago, the doctor detected PVCs, or premature ventricular contractions, an abnormal heart rhythm, and sent Truscott to Frederick Memorial Hospital. After seeing a cardiologist there, he was transferred to Washington Hospital Center, where he was diagnosed with ARVD - arrhythmogenic right ventricular dysplasia - and received an implantable cardioverter defibrillator to monitor his heart's rhythm and, if necessary, deliver an electrical shock to the heart to return it to normal rhythm.
"They knew I had some type of arrhythmia problem," said Truscott, 57, who lives in Frederick . "Back then, not too many doctors were aware of ARVD. Thankfully, these doctors were."
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It's estimated that about 1 in 5,000 people have ARVD. "In terms of inherited heart disease, it's considered relatively rare," said Dr. Hugh Calkins, director of the ARVD research program at The Johns Hopkins Hospital in Baltimore. Though the symptoms were described in medical literature as early as the 1700s, Calkins said the modern medical community only became aware of it in the early 1980s.
"It's an inherited heart abnormality," Calkins said. What little has been learned about the disease in the past decade has been through the Johns Hopkins program.
ARVD causes muscle in the lower right chamber to become fatty and fibrous, resulting in palpitations, abnormal heart rhythms, syncope or fainting and, sometimes, sudden death. ARVD is the third or fourth most common cause of death when a young, otherwise healthy athlete dies suddenly, Calkins said.
"In the last five to 10 years, identifying the genetic basis of the disease has been one of the most important" research discoveries, Calkins said.
The most common genetic abnormality identified in patients with ARVD is a mutation in the desmosomal proteins -- the cellular "glue" that binds the heart muscle together, he said. Prior to this finding, the thinking was ARVD was triggered by a virus.
A progressive disease, it predominantly affects the right ventricle, but in advanced cases can affect the left side, too. "Why the right ventricle? It's a lot thinner than the left and there are not as many layers of cells," Calkins said.
With ARVD, the heart's cells get "ripped apart and die," starting a process of scar and fat replacement that interferes with electrical impulse conduction.
People with ARVD are advised not to do strenuous exercise. "Walking, golf and sex are all we recommend," Calkins said.
During exercise, the right ventricle dilates or stretches, putting more stress on the weakened cell bindings.
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It's a disease that is more frequently diagnosed in people who are athletic than in non-athletes, Calkins said. "You're born with this inherent abnormality and exercise may lead to its presentation. Once diagnosed, we tell patients not to exercise and that's hard for people who are wrapped up in being fit."
When Rodney Truscott was diagnosed with ARVD, "we didn't understand how severe it was," said Truscott's wife, Mary. "As time progressed, he had heart failure episodes, each progressively worse. Watching someone go through that is tough."
Truscott said the defibrillator fired once when his heart raced at 188 beats per minute. A normal heart rate is 60 to 100. "I was sleeping and didn't feel it," he said of the event in 2004.
He had to be hospitalized several times to drain excess fluid his heart wasn't able to handle. He was constantly cold and experienced shortness of breath.
Fatigue affected his work performance at GE, where he was in operations and planning, and Truscott had to retire in 2006. He was depressed and his weight had spiraled to more than 300 pounds because of excess fluid. His health continued to get progressively worse, and in November 2006, his doctor told Truscott his heart was failing and he needed to be evaluated for a transplant.
"That was like being slammed by a box truck. I cried and cried," he said.
"When we found out he had to have a heart transplant, that was a crushing blow," Mary said.
On April 6, 2007 - Good Friday - Rodney had the surgery and woke up three days later on Easter. His grandson was born in July, but "I didn't get to see him until I came home from the hospital" in September, he said.
The disease that affected the functioning of his heart also led to liver damage and kidney failure. Rodney has had dialysis three days a week since the heart transplant and has been awaiting a donor kidney for a year.
"He's had five calls so far; three the surgeon turned down. Because he has liver damage from heart failure and the complications of having had a heart transplant, he needs a kidney in very good condition," Mary said.
The Truscott's life revolves around Rodney's health, she said. "It's become a 'normal' situation, which is not everyone else's 'normal.'" Her adult children, friends and church have all been supportive.
Because ARVD is inherited, all first-degree relatives (children, siblings and parents) of an individual diagnosed with the disease should undergo screening, Calkins said. "And they need to be screened multiple times. It might be fine at 23, but may develop at 25 or 30, particularly if you're young and athletic.
"It's a huge implication for a family. Having genetic testing available (in the Johns Hopkins program) has been helpful," he said.
"It's really a fascinating disease and very rare."
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