A heart condition a Cairns woman shared with her late brother has been revealed via genetic testing to be a trait her entire bloodline has been at risk of inheriting.
Twelve years ago, Maylene Rudan was diagnosed with cardiomyopathy, a disorder that affects the heart muscle.
The condition causes the heart to lose its ability to pump blood well, which can lead to heart failure.
‘Once my cardiologist Dr Joseph Ling realised my brother also had a heart condition, he thought it may have been a genetic condition,’ Maylene said.
‘So, he referred me to Cairns Hospital’s cardiac genomics clinic, where they organised for me to have genetic testing.’
Cardiac genetic screening searches for the gene variant that caused certain conditions, such as arrhythmias, congenital heart disease, cardiomyopathy, and high blood cholesterol.
Maylene’s testing results indicated she was indeed a carrier of the gene for cardiomyopathy.
‘They know that it’s come down the family line,’ she said.
‘They don’t know yet whether it’s my mother or father at this stage, but it’s likely mum’s side of the family because her brother also had cardiomyopathy, which I later found out.
‘This means the gene could be passed down to my sister or brother, or my two sons.’
She said she had been prescribed medication to manage her heart condition.
Her older brother, John, however, passed away from the condition just two years ago.
‘My brother died just after my cardiac genetic test, from the same heart issues that I’ve inherited,’ Maylene said.
‘His heart condition was so far gone, they had to equip him with a pacemaker, until his heart unfortunately gave way.
‘His heart issues were picked up a lot later in life than mine; but the medication I’m on has helped keep it fairly stable.’
She said she had encouraged everyone in her family to undergo genetic testing to ensure they aren’t at risk from cardiomyopathy.
‘It’s been a bit of an eye-opener, this whole process,’ she said.
‘If any of my family return positive results, they need to be on the lookout for any symptoms of heart conditions that may arise, including for their children as well.’
Clinical nurse co-ordinator of cardiology genomics, Natalia Morris, described the clinic as innovative and family focused.
‘Many of the families we’ve tested have endured great tragedy, including sudden cardiac death in young people, and serious cardiac complications in numerous individuals,’ she said.
‘This clinic is designed to give these families access to a well-supported and coordinated one-stop shop, accessing specialist clinical care, ongoing management and surveillance, while using genetic testing to identify those family members who are at a higher risk.
At the same time, we also incorporate genetic testing to identify those in the family who are not at risk and can be discharged from lifelong clinical screening.
‘The impact this type of management can have on families cannot be overstated.’
Genetic testing at Cairns Hospital is available for all patients between Mackay and Saibai Island.
The clinic is available to patients upon referral by a GP or heart specialist.