Siblings fitted with heart devices as new test finds hidden condition
This brother and sister look like most other Australian children – happy, healthy and full of fun – but inside their chests are tiny devices keeping them alive, after a new test found a hidden harm
READING LEVEL: ORANGE
Little Mehr and Agastya Sood look like most other Australian children – happy, healthy and full of fun – but inside their chests are electronic devices keeping both of their hearts working, after new genetic* testing found the siblings were suffering from a hidden, very serious condition.
Mehr, now three, was first to be fitted with an implantable cardioverter-defibrillator* (ICD) 18-months ago, after she had a cardiac arrest* at their Sydney home – which her parents Abhishek and Mansi initially thought was a seizure*.
“We thought we had lost her,” mum Ms Sood said.
“The paramedics were performing CPR* on her and she was blue, so they gave her five shocks before the rhythm of her heart was restored.”
Mehr was rushed to hospital, where her parents had an anxious wait.
“There was just a nine per cent chance she would survive, and they told us she would have some kind of brain damage,” Ms Sood said.
But just three days later, Mehr was back to her old self, acting like a “normal kid”, up and about, with no signs she’d almost died – which left her doctors baffled.
The decision was made to test Mehr for a genetic condition known as Brugada Syndrome, a rare and potentially fatal heart arrhythmia*, which returned a positive result.
She underwent surgery and was fitted with the ICD, to keep her heart safe and protect her from any future cardiac events.
“She’s a very feisty kid, she has a big personality, so she loves to tell people that she has a ‘device’ … She’s very proud of it,” Ms Sood said.
In the months since, using new genetic testing developed by scientists at Australia’s Victor Chang Cardiac Research Institute (VCCRI), doctors discovered that Mehr’s older brother Agastya, then just five, also had the same hidden condition.
Just last month, he too was fitted with an ICD to protect him from suffering a major event the same way his little sister did.
“We didn’t want to take the chance, we’ve seen how serious it can be, so we made the decision to have my son get the ICD,” his mum said.
“He was present in the room when (Mehr) was getting the shocks, he saw it all, so when we told him he needed a device too, he said he wanted one.
“He looks at it as a blessing, like someone is watching out for him constantly.”
The new test measures how genetic variants in the sodium channel gene* affect electrical activity in the heart. And according to VCCRI Professor Jamie Vandenberg, the breakthrough testing enables more accurate genetic diagnosis.
“This approach helps us move beyond uncertainty and gives patients and clinicians* clearer answers,” he said.
“We’ve already seen the impact of this work in clinical settings,” added senior scientist Dr Chai-Ann Ng.
“In (this) case, the test helped reclassify a variant and led to lifesaving treatment for a child with Brugada Syndrome.”
ABOUT BRUGADA SYNDROME
According to Melbourne Heart Rhythm, a team specialising in heart rhythm management based in the Department of Cardiology* at The Royal Melbourne Hospital, only 20-30 per cent of Brugada Syndrome patients have a family history.
The condition is rare, affecting around one in 2000 people in the general population.
Only the Type-1 ECG pattern is diagnostic of Brugada Syndrome and only an ECG will detect it. There is a distinct but atypical pattern in Type-1 known as a “coved elevation*”.
It is possible to have a Brugada pattern ECG result without having Brugada Syndrome. However, signs and symptoms that could mean a patient may have Brugada Syndrome include fainting, irregular heartbeats or stopped heartbeat, also known as a sudden cardiac arrest, which is the same heart event that happened to little Mehr.
POLL
GLOSSARY
- genetic: belonging or relating to genes, the parts of the DNA in cells passed to each animal or plant from its parents
- cardioverter-defibrillator: a small battery-powered device placed in the chest that monitors the heart 24/7 and detects and stops irregular heartbeats
- cardiac arrest: a potentially fatal medical condition in which the heart stops beating
- seizure: sudden, uncontrolled body movements and changes in behaviour due to abnormal electrical activity in the brain
- CPR: cardiopulmonary resuscitation, a lifesaving procedure for keeping someone alive in a medical emergency by giving them chest compressions that manually keep their blood and oxygen circulating around their brain and body while waiting for medical help to arrive
- arrhythmia: a problem or irregularity with the rate or rhythm of your heartbeat
- sodium channel gene: segment of DNA that provides instructions for making sodium channels, which are essential membrane proteins that form ion channels
- clinicians: doctors and specialists which specific qualifications for clinical health practice
- cardiology: the study and treatment of medical conditions of the heart
- coved elevation: rising in a curved shape
EXTRA READING
How play helps keep you healthy
Teen reveals toll of Everest climb
QUICK QUIZ
- Mehr was given what percentage chance of survival after her cardiac arrest?
- How old was Mehr at the time of her life-threatening cardiac event?
- What does ICD stand for?
- Approximately what proportion of the general population suffers from Brugada Syndrome?
- What does the new test developed by the VCCRI measure in patients like Mehr’s big brother Agastya?
LISTEN TO THIS STORY
CLASSROOM ACTIVITIES
1. Medical marvels
The machine that helps regulate this rare genetic condition, the implantable cardioverter-defibrillator (ICD), is a lifesaving device for children like Mehr and Agastya.
What other medical inventions can you think of that might have changed or saved the lives of lots of other children around the world?
Work with a partner and list other medical inventions and state what you know about them:
MEDICAL INVENTION WHAT IT DOES
Time: allow 10 minutes to complete this activity
Curriculum Links: English, Science, Personal and Social, Critical and Creative Thinking
2. Extension
What medical advances or treatments would you like to see in the future, to help sick or suffering people?
Do you think you will see this in your future lifetime?
Time: allow 10 minutes to complete this activity
Curriculum Links: English, Science, Personal and Social, Critical and Creative Thinking
VCOP ACTIVITY
Vocabulary recycle
There is some vivid vocabulary being used in the article, and I am not just talking about the glossary words. Go through the article and highlight the high-level language that you are impressed by in yellow.
See if you can borrow two of these wow words to reuse in your own way.
Remember vocabulary is a great way to connect with the audience, but you need to think about who your audience is so you make great word choices.
Who will the audience be in your recycled sentences?