The term cardiogenetics literally means the genetics of heart diseases. A hereditary disease is caused by an abnormality in the genetic material – the DNA. Cardiogenetics is therefore concerned with hereditary heart diseases with a typically autosomal dominant inheritance pattern. This means that the children of a patient have a 50% possibility of inheriting the disease as well. Our understanding of hereditary cardiovascular disease has advanced greatly in recent years. This has lead to an improvement both in researching the hereditary predisposition to developing cardiovascular disease (genetic analysis) and in treatment.
Hereditary coronary disease can lead to serious complications for the patient. For example, patients with hereditary cardiovascular disease are at risk of sudden death or other complications. The most serious complication is sudden death, which often occurs at a relatively young age. With a simple cardiological examination, it is possible to assess the risk of sudden death and other complications. By undergoing treatment or simply following specific recommendations, the possibility of suffering these complications is clearly reduced. It is therefore important to receive the appropriate information, not only for the patient, but also for their family.
Patients who can attend the Cardiogenetics Unit at the polyclinic and the type of examinations performed at the Unit
Cardiological examination: examples of cardiological examinations include an electrocardiogram (ECG, or a graphical representation of cardiac activity), an echocardiogram and stress testing.
DNA diagnostics: this is an analysis of a mutation (change) in the genetic material (DNA) which causes the disease, using a sample of blood or other tissue. It can give a better understanding of the clinical picture of the patient, although it is principally used to investigate the hereditary predisposition to developing the disease in healthy family members (genetic analysis). The examination of healthy family members is known as presymptomatic diagnosis.
Not everyone likely to have hereditary cardiovascular disease will know for certain whether they will undergo tests. So that you can make the right decision, we will talk to you (and inform you in writing) about the clinical picture and the possible consequences for you and your family. Before undergoing an examination, you will also be told about the possible implications the test may have for your insurance policies, and you may also receive psychosocial assistance.
At the polyclinic Cardiogenetics Unit, we advise and examine the following groups of patients and their families (you can soon find more detailed information about the clinical picture under the ‘Clinical picture’ tab):
- Cardiomyopathies: these are diseases caused by abnormalities in the cardiac muscle (examples of these conditions include hypertrophic cardiomyopathy, dilated cardiomyopathy and arrhythmia right ventricular cardiomyopathy).
- Primary electrical heart diseases: these are diseases in which the structure of the cardiac muscle is normal. However, the electrical activity of the heart is not normal (examples of these diseases include Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia).
- Sudden death at an early age (< 45 years): the reason for recommending cardiological examinations for family members is that sudden death at an early age is usually associated with the heart. The cause of sudden death is often found to be hereditary cardiovascular disease.
- Connective tissue diseases: these diseases are characterized by abnormalities in the function or structure of one or more elements of the connective tissue (examples of these diseases include Marfan syndrome and Ehlers-Danlos syndrome).
- Familial hypercholesterolemia: this is a hereditary disease which can significantly increase levels of cholesterol in the blood. As a consequence, the disease increases the risk of developing cardiovascular disease at an early age. For example, a myocardial infarction or a cerebrovascular accident.
The level of coverage offered by insurance companies for cardiological examinations and possible additional DNA diagnostic tests varies from company to company. In addition, applicable regulations vary from country to country. If you would like to undergo an examination but do not know whether this is covered by your insurance company, you can contact the IMED Hospital in Elche by telephone (see the ‘Contact’ tab) or send an email to email@example.com. We will contact your insurance company and make enquiries about your coverage so that you can avoid any unexpected costs.
How to make an appointment at the polyclinic Cardiogenetics Unit?
You can be referred to the polyclinic by your family doctor or by another specialist physician (for example, a cardiologist). You can also make an appointment or an enquiry by sending an email to firstname.lastname@example.org.
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