If a member of your family has a diagnosed heart condition or has passed away from sudden death syndrome, it is very important that you are monitoring your own heart health. This can be achieved with regular cardiac screening tests and working alongside a specialist for a tailored management plan. We spoke to one of our expert cardiologists Dr Sabiha Gati about inherited heart diseases and here she explains the commonest types and what you can expect from a screening.
How can genes influence the risk of heart disease?
Genes can influence the risk of heart disease in several ways and control different aspects of the cardiovascular system, including the way the cells within the heart communicate and function. A genetic alteration (mutation) can affect the prospect of developing heart disease.
If a family member is diagnosed with heart disease, what should I do to take care of my own heart health?
When a family member is diagnosed with heart disease, other family members are encouraged to seek further advice regarding cardiac screening for risk factors predisposing them to heart disease and early stages of the disease, which may not produce symptoms in the early phases.
What are the commonest inherited cardiac conditions?
There are a number of inherited cardiac conditions that may cause fatal electrical abnormalities (arrhythmias) and sudden cardiac death. Inherited cardiac conditions can be divided into structural and electrical conditions.
Inherited structural conditions:
- Hypertrophic cardiomyopathy
- Dilated cardiomyopathy
- Left ventricular non-compaction
- Arrhythmogenic cardiomyopathy
Inherited electrical conditions:
- Brugada syndrome
- Long QT syndrome
- Short QT syndrome
- Catecholaminergic polymorphic ventricular tachycardia
- Wolff-Parkinson-White syndrome
- Familial atrial fibrillation
Why is medical screening for inherited heart diseases important?
Medical screening is recommended for family members of a sudden cardiac death victim. If first degree relatives carry an inherited disorder placing them at risk, treatments including drug therapies and implantable devices are available as preventive measures.
What happens during a cardiac medical screening?
Cardiac screening involves a detailed clinical history and family history followed by a 12-lead electrical trace of the heart (electrocardiogram) plus an imaging assessment (echocardiography or cardiovascular magnetic resonance) for a structural fault.
For electrical conditions, you may also require a treadmill exercise test and prolonged electrocardiogram monitoring. These are all non-invasive tests. Depending on the initial results, you may require further investigations. If your initial results are normal, in the presence of a family history of an inherited cardiac condition, your doctor will advise further cardiac screening in two to three year’s time.
In some cases, a genetic evaluation will be available in the presence of a positive mutation in an affected family member which will allow cascade screening for first degree relatives. If you go ahead with genetic testing and prove to have a negative gene mutation, you are unlikely to develop the condition that runs in the family.
However, if you prove to have the same gene mutation, the chances of developing the condition at some stage in life is likely and therefore, you would remain under a regular surveillance programme preferably in a specialist inherited cardiac condition service.
Dr Gati holds a specialist interest in managing cases of inherited cardiac diseases. If this is something that you would like to discuss with her, you can make an appointment with Dr Gati via her Top Doctors profile here. If you can’t make the appointment in person she is also available for a video call using our e-Consultation tool, which can be found on her profile too!