Lee Kam-hung, 46, still remembers vividly the restless night seven years ago when he received a call from Prince of Wales Hospital telling him his one-year-old daughter’s heart had stopped for a few seconds and been restarted with a defibrillator.
His daughter Lee Cheuk-tung, now 8, had several brushes with death as the result of arrhythmia, which can cause an erratic heartbeat, and her limbs turned purple whenever she had a fever.
Its cause unknown, the condition continued to torment the Lees until they did a genetic test in 2017 that showed their daughter suffered from Brugada syndrome, a genetic disorder that causes arrhythmia.
She is now on medication, and a cardioverter-defibrillator – which keeps track of her heart rate and delivers electric shocks if abnormalities are detected – is installed next to her heart.
“We are now, of course, much more at ease,” her father said.
The test also found that Lee Kam-hung also carried the recessive gene that leads to the syndrome, meaning he also had arrhythmia and a higher risk of cardiac arrest. He now attends regular follow-up medical consultations.
To help more families like the Lees, the Children’s Heart Foundation, a charity that has supported children with congenital heart diseases since 1994, will next year launch a project that provides free genetic testing services using whole genome sequencing.
All children previously or newly diagnosed with cardiac channelopathy or cardiomyopathy via negative traditional genetic tests will be eligible, as will their core family members. The project expects to benefit 30 children and another 60 relatives.
Channelopathy is a type of genetic abnormality that can cause heart rhythm disturbances such as Brugada syndrome, while cardiomyopathy affects the heart’s ability to pump blood.
Project manager Dr Kwok Sit-yee, a paediatric cardiology consultant at Hong Kong Children’s Hospital, said whole genome sequencing was more effective than traditional genetic testing.
“Traditional genetic testing focuses on testing the target gene, but it sometimes cannot indicate the cause of the disorder … There could be another area in the genome in which a defect can explain the disorder,” he said.
“Whole genome sequencing shows the entire DNA sequence, which can be compared with the sequences of other people to find out the cause.”
Kwok, who is also Lee Cheuk-tung’s attending doctor, said the project would help children suffering from heart disease with unknown causes get the right treatment.
“We spent a lot of time figuring out what caused her condition … Lee’s Brugada Syndrome is not typical. Her electrocardiogram did not show typical signs of the syndrome,” he said.
“After the genetic testing, we had more information to share with overseas experts, at which point we found the right medicine to help her.”
The new project will offer genetic testing counselling that explains the findings to patients and training that will enhance medical staff’s knowledge about the testing and its applications.
It will also build the first genetic and clinical database of inheritable cardiovascular disease in children and adolescents in Hong Kong, Kwok added, something that will add to the entire world’s knowledge of the issue.
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