What are Inherited Cardiac Disease?
"Cardiac Diseases" is a collective term of diseases related to the heart, and many of them are inherited. Below are some common inherited cardiac diseases:
| Arrhythmia | |
| Cardiomyopathy | |
| Lipidemia | |
| Aortopathy | |
| Cardiac Diseases can be asymptomatic and lethal |
One Person dies every minute due to Heart Disease#^
| Every Year 54.4M People Die from Sudden Cardiac Death(SCD) in Mainland China ^ | |
| 30% SCD Patients have a SADS gene mutation* | |
| The Risk of Heart Attack increase for those who have Familial Hypercholesterolemia* |
Onset of Cardiac Disease
| Heart Disease is the No. 2 Killer in Hong Kong | |
| An Average of 5000 people have died from heart diseases | |
| There is a significant increase of 10% in Coronary Heart Disease Incidences between 15-24 year-olds people |
Heart conditions that can lead to sudden cardiac arrest
Sudden death in people were younger than 35, often due to undiscovered heart defects or overlooked heart abnormalities. When these sudden deaths occur, it's usually during physical activity, such as playing sports1.
How common is sudden cardiac death in Hong Kong?
| Over 4,000 people die related to coronary heart disease every year. The death rate is higher than some common cancers. | |
| A cardiac specialist pointed out that more than 50% of patients do not have any symptoms before onset. | |
| And the patient will die without CPR in the golden period. | |
| The death rate is 30% in sudden cardiac death, and 60% of the patients died within 1 hour2. |
Which conditions related to sudden cardiac arrest?
Sudden cardiac arrest can happen in people who have no known heart disease. However, a life-threatening arrhythmia usually develops in a person with a preexisting, possibly undiagnosed heart condition. Conditions include3:
| Below the conditions are listed related to sudden cardiac arrest | |||
| These genes are covered in MYGENIA® Inherited Cardiac Disease Genetic Screening | |||
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There is a 50% chance of passing the disease to the Next Generation
If either one of the parents has a mutation in the related genes, there is a 50% chance of passing on the mutation to the next generation: Earlier Detection, Earlier Prevention.
Advantages of Genetic Testing
| Diagnosis | |
| Risk Assessment | |
| Prognosis |
Disease information related to heart diseases
American College of Cardiology [ACC], American Heart Association [AHA], Heart Rhythm Society and Heart Failure Society of America recommend genetic testing as a clinical diagnosis tool for the most commonly heart diseases as seen below:
| Disease types | Condition | Prevalence | Genetic testing for Patients with established or suspected clinical diagnosis |
Genetic testing of Family Members |
|---|---|---|---|---|
| Cardiomyopathies | Hypertrophic Cardiomyopathy | 1 : 200-500 | Recommended | Recommended |
| Dilated Cardiomyopathy | 1 : 250-500 | Recommended | Recommended | |
| Arrhythmogenic Cardiomyopathy | 1 : 5,000 | Recommended | Recommended | |
| Arrhythmias | Long QT Syndrome | 1 : 2,500 | Recommended | Recommended |
| Catecholaminergic Polymorphic Ventricular Tachycardia | 1 : 10,000 | Recommended | Recommended | |
| Brugada Syndrome | 1 : 5,000-10,000 | Recommended | Recommended | |
| Aortopathies | Marfan Syndrome | 1 : 5,000 | Recommended | Recommended |
| Loeys-Dietz Syndrome | 1 : 100,000 | Recommended | Recommended | |
| Familial Thoracic Aortic Aneurysms and Dissections | 1 : 100,000 | Recommended | Recommended | |
| Vascular Ehlers-Danlos Syndrome | 1 : 50,000-200,000 | Recommended | Recommended | |
| Lipidemias | Familial Hypercholesterolemia | 1:220 | Recommended | Recommended |
New Screening Technology
| Technology of the Test | Next-generation sequencing (NGS) | ||||||
|---|---|---|---|---|---|---|---|
| Test Name | MYGENIA® Inherited Cardiac Disease Genetic Screening | ||||||
| Advantages |
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| Diagnosis Advantages |
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Traditional Cardiac Technology Comparison
| Technology of the Test | Electrocardiography (ECG) | Imaging Recognition | |||||||||||||||
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| Test Name |
Treadmill Exercise Test Resting Electrocardiogram |
Ultrasound | X-ray | Magnetic resonance imaging (MRI) |
Computed Tomography (CT scan) |
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| Advantages |
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| Disadvantages |
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MYGENIA® Inherited Cardiac Disease Genetic Screening (RAC)
Covers 255 Genes associated with Inherited Cardiac Diseases
| Every 1 out of 200-500 Asians is a Carrier of Inherited Cardiac Diseases | |
| The risk of heart attack increases 22 times for those who have a history of Familial Hypercholesterolemia | |
| Accuracy of Next Generation Sequencing Technology is up to 99.9% | |
| Sensitivity of the Test is over 99% | |
| Professional report interpreted by a genetic counsellor |
Who is suitable for this test
| Have Familial Heart Disease History (High Risk Group) | |
| Experiences with muscle pain in the chest (may be related with Heart) | |
| Worrying whether you have genetic mutations related to Heart Diseases | |
| Unhealthy lifestyle: Smoking, alcoholism, or unhealthy eating habits | |
| Overweight, lack of exercise | |
| Have high blood pressure and/or diabetes | |
| Anyone eager to know about their health |
Test Specifications
| Test Code | Methodology | Specimen Requirements | Turnaround Time |
|---|---|---|---|
| RAC | NGS (Next Generation Sequencing) | 6ml blood in Lavender-top EDTA tube | 4-6 Weeks |
Reference
- * SADSHK Foundation
- ^ Report on Cardiovascular Health and Diseases in China 2019
- # Topick: Research Report from Cardiologist Dr. CHAN Leung Kwai
- 1 MAYOCLINIC - Sudden death in young people: Heart problems often blamed
- 2 Care For Your Heart
- 3 MAYOCLINIC- Sudden cardiac arrest