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RocWell News: UR Medical Center Leads National Heart Study

Local researchers will study possible treatments for an often undetected but fatal heart condition.
UR Medical Center--Michelle Santilli-Kulik's twin sister Angela was 14 when she showed first signs of arrhythmogenic ventricular cardiomyopathies or AVC's.
"You know, our hearts were racing while playing and than afterward her heart continued to race."
According to Michelle, her sister's condition developed quickly.
"Within 7 years, she was on the heart transplant list, and passed away."
Michelle didn't show signs then.
But eventually, she was diagnosed with the same condition.
At this point it is far less severe than her sister's case.
Doctors say AVC's are genetic and affect young patients.
The disease is found in about 1 of a thousand Americans.
It causes the muscle tissue to become loose.
It results in uncoordinated muscle contractions that cause arrhythmias.
Symptoms include heart palpitations, or a feeling like your heart is racing, loss of conscientiousness, and sudden death.
It can be exposed during rigorous exercise but it's otherwise undetected.
"The disease is very complex because it is simply, pretty silent.," said Dr. Wojciech Zareba, who is the professor of cardiology and medicine at UR Medical Center. "It can not be easily identified. "
"So, beginning this month, researchers at the medical center will play an important role in a nationwide study.
Researchers will primarily focus on the genetic background of the disease.
They'll recruit some 600 patients in 12 sites throughout the U.S.
"We believe that knowing how this derangement of fibers is working in this rare disease will open the door of treating many, many patients with hypertension, with cardiomyopathies in the future."
Currently, the only treatment is a defibrillator implant.
It detects irregularities and shocks the heart back into a normal rhythm.
Michelle has one.
She also avoids stimulants like caffeine or rigorous exercise.
Beta blockers help keep adrenaline away from her heart too.
Otherwise, the 42-year-old says she's living a normal life.
She says that is what her sister would've wanted.
"She lived her life to the fullest. So, that's what I'm trying to do," said Michelle.
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