Genetic testing is giving answers to grieving families about why their young loved ones died inexplicably of cardiac arrests, and offering a life-saving early warning that their own hearts, and the hearts of their children, are also at risk of short-circuiting.
“We would usually expect that patients with cardiomyopathy would have thickening or enlargement of the heart at autopsy, but we didn’t see that,” Isbister said.“These deadly heart rhythms in these conditions were happening before any changes to the heart muscle could be detected.” “One of the biggest things is being able to tell a family member that they don’t carry the variant that killed their loved one and providing that reassurance … it’s the best news you can give someone,” Isbister said.“For those who do carry the variant it means we can monitor them more closely … We can keep an eye on their heart with electrocardiogram or echocardiogram or cardiac MRI.”
Parkes also carried the gene variant. Her daughter, Claudia did not carry the variant, but soon after her son Zac was born he tested positive for ACTN2 and was put on beta blockers – medication that reduces blood pressure.In 2017, Bridle’s sister, Kathryn, suddenly died. She was just 30. Parkes’ own defibrillator saved her life when she had a cardiac arrest in her sleep. It shocked her six times to restart her heart.Semsarian, cardiologist and head of the Agnes Ginges Centre for Molecular Cardiology, said the study findings have already led to a change in best practice guidelines globally, where roughly 40 per cent of sudden deaths are unexplained in the young.
Kaubo Click bait headline on what appears an important topic. Stay classy SMH.
Kaubo A non-indigenous death?
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