Authors (including presenting author) :
Kwok SY (1), Ho S (2), Shih FY (2), Shi J (1), Lee PH (3), Cheung LL (4), Cheng T (5), Yeung PK (6), Foo KC (6), Yuen L (5), Mak C (5), Tsao S (1), Yung TC (1), Lun KS (1), Cheung YF (1), Lai SC (6), Luk HM (2)
Affiliation :
(1) Cardiology Centre, Department of Paediatric and Adolescent Medicine, Hong Kong Children’s Hospital
(2) Department of Clinical Genetics, Hong Kong Children’s Hospital
(3) Department of Medicine, Queen Elizabeth Hospital
(4) Department of Medicine, Prince of Wales Hospital
(5) Department of Pathology, Hong Kong Children’s Hospital
(6) Forensic Pathology Service, Department of Health
Introduction :
Cardiac channelopathy and cardiomyopathy are important causes of sudden cardiac death (SCD). Precision medicine plays an important role in guiding prognostic and therapeutic decision-making, as well as preventing SCD. A multidisciplinary cardiac-genetic service was started in our single tertiary paediatric cardiology centre (former Queen Mary Hospital and current Hong Kong Children’s Hospital) since 2017. With service integration of territory-wide clinical genetic service in Hong Kong Children’s Hospital in 2023, the molecular autopsy service has been further incorporated into the service model, with participation of clinical geneticists, pathologists, paediatric and adult cardiologists.
Objectives :
The outcome of cardiac-genetic service in our single tertiary paediatric cardiology centre and the service of territory-wide molecular autopsy service for young SCD were reviewed.
Methodology :
All paediatric patients with the diagnosis of cardiac channelopathy or cardiomyopathy, who had genetic testing performed in our centre from 2007 to 2022, were included. Genetic yields were assessed. The 5-year result (2017–2021) of molecular autopsy services provided for victims of SCD (age 1–40 years) was also reviewed.
Result & Outcome :
A total of 167 probands were identified. Ninety-seven probands were found to carry at least one pathogenic or likely pathogenic (P/LP) variants (58.1%), while 34 probands (20.4%) were found to have variants of uncertain clinical significance (VUS) only. P/LP variants were identified in 60 channelopathy (65.2%) and 37 cardiomyopathy (49.3%) patients. The yield of subsequent cascade genetic screening of first-degree relatives was 27.3%. For SCD victims, among the 41 decedents, 11 were found to carry 13 SCD-causative genetic variants. Cascade genetic testing identified four family members with LP variants. One family member was found to have hypertrophic cardiomyopathy upon clinical evaluation. Our service model provides a comprehensive assessment and counselling framework in serving families affected by inheritable cardiovascular conditions.
