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YOUR HEALTH: Adults facing cardiac issues since birth

Doctors treating adults with other heart conditions might want to consider screening for undiagnosed defects that could date back to childhood

Sudden cardiac death is the biggest cause of cardiac death in the United States. 

While some people may have symptoms leading up to cardiac arrest, like a racing heart or dizziness, many have no symptoms at all. 

"Usually, it's variable probably on the order of minutes, is all somebody has really to start getting CPR before the brain and other vital organs start to die, and it's an irreversible process then," explained Dr. Aloke Finn, interventional cardiologist at the University of Maryland School of Medicine.

Scientists want to know how a person's genetic makeup could provide an early warning for people at high risk.

Dr. Finn said they've pinpointed the cause for some unexplained deaths. 

He and his colleagues performed genetic tests on 400 deceased patients, mostly in their forties, who died unexpectedly.

"What we can do is we can extract DNA from the organs of those people, and we can sequence that DNA for certain cardiac genes," said Dr. Finn. 

"We found about 20% of the people dying of, so-called unexplained, sudden cardiac death carried pathologic, or pathologic mutations in certain cardiac genes, which suggest they had underlying undetected, cardiac disorder."

Dr. Finn says the findings may open the door to important questions about the potential to save lives with genetic screening, especially for patients with a family history of sudden cardiac death. 

Right now, there are no clear guidelines on screening and treating patients with the genetic mutations that might make them vulnerable to sudden cardiac death. 

Genetics and cardio risks

A patient should be familiar with their medical past and family history. 

If there is a family member with arrhythmias, heart failure, or amyloidosis and connective tissue disorders, a medical evaluation and possibly an echocardiogram or a cardiac MRI to diagnose whether the patient shares this condition and would benefit from early treatment, may be needed. 

There can also be an elevated risk for cardiovascular disease if family members have diabetes, high blood pressure, or high cholesterol, which can have genetic predispositions. 

Lifestyle also plays an important role. 

If someone is overweight, smokes, has a nutrient-poor diet or doesn't exercise, then no matter how good your family history is, these lifestyle factors will negatively impact health in the long run.

New research to prevent sudden cardiac deaths

Florida State University College of Medicine has developed a better understanding of the pathological characteristics behind arrhythmogenic cardiomyopathy (ACM), a disease that leads to Sudden Cardiac Death, or SCD. 

Assistant professor of biomedical sciences, Stephen Chelko, has also discovered some promising avenues for prevention. 

Individuals with ACM possess a mutation causing arrhythmias, which ordinarily are non-fatal if managed and treated properly. 

Studies show that exercise in these individuals not only amplifies those arrhythmias but causes extensive cell death.

"This novel study unravels a pathogenic role for exercise-induced, mitochondrial-mediated cell death in ACM hearts," said Chelko.

This finding opens avenues for the development of new therapeutic options to prevent myocyte cell death, cardiac dysfunction and pathological progression. 

If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at jim.mertens@wqad.com or Marjorie Bekaert Thomas at mthomas@ivanhoe.com.