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Genetic skin disorder detected in newborns could predict future heart problems

Identifying those at risk could give them the best health outcomes down the road

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Photo (c) Kinga Krzeminska - Getty Images
A new study conducted by researchers from Thomas Jefferson University found that a genetic skin disorder detected at birth could predict future heart problems. 

According to the researchers, epidermolysis bullosa (EB) is a skin condition that makes the skin incredibly fragile, and it can also affect bruising and hair growth. The researchers discovered that a specific gene mutation that is associated with EB is also linked with the heart condition arrhythmogenic right ventricular cardiomyopathy (ARVC), which weakens the heart over time and can be life-threatening. 

“By looking into the skin of newborns, we can predict the development of a devastating heart disease later in life,” said researcher Dr. Jouni Uitto. “This is predictive personalized medicine at its best.” 

Identifying genetic risks

The researchers analyzed the DNA of 360 patients with EB to try to determine what part of the genetic make-up was responsible for the skin condition. They learned that two participants -- a toddler and a young woman in her early twenties -- had a common mutated gene: the JUP gene.

Upon closer research, the team learned that both study participants had exhibited the same EB symptoms during infancy. However, as the woman grew and developed, she was diagnosed with ARVC. At the time of the study, the toddler wasn’t experiencing any heart-related issues; based on the way the JUP gene mutates, the researchers predict that EB patients with this specific gene mutation are highly likely to develop ARVC.

These findings show just how serious a condition ARVC is. Not only does the heart weaken over time, but patients as young as 30 are incredibly vulnerable to cardiac arrest

“This is a serious disease that can require a heart transplant if the damage is too severe because of heart failure and life threatening fast rhythms,” said researcher Dr. Reginald Ho. 

Because EB can be detected at birth, the researchers hope that these findings can work to identify patients who could be genetically predisposed to ARVC from the earliest stages of development. 

“This means that with mutation analysis, you can predict when looking at EB patients at birth, whether they will have this very severe heart condition later in life,” said Dr. Uitto. “These patients need to be monitored carefully for heart problems.”

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