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Cardiogenetics studies heart diseases with a genetic cause that can affect the myocardium or heart rate, as well as congenital heart malformations and arterial vascular diseases. These pathologies are characterised by the risk of sudden death or chronic morbidity involved, affecting the patient and their family.

Cardiomyopathy Arrhythmia Vascular diseases Dyslipidaemia

It is important to identify them genetically in order to:

  • Define the diagnosis
  • Establish a prognosis according to the mutated genes
  • Establish preventative and monitoring measures for the patient

Molecular diagnosis in the patient is very important to identify family members that may be at risk and should go on cardiology prevention and monitoring programmes as well as for the peace of mind of family members if they do not have the genetic mutations associated with the pathology analysed.

Furthermore, such diagnosis also provides reproduction recommendations according to the molecular state detected.

Primary cardiomyopathies are diseases that are specific to the myocardium and weaken the myocardial function.. Patients affected by cardiomyopathy are at a high risk of suffering arrhythmias and cardiac arrest.

Hereditary cardiomyopathies can be caused by mutations in over 100 genes that are normally transmitted following autosomal dominant hereditary models.

Cardiac arrhythmias are one of the most common causes of death among the population especially in patients with a history of heart disease and they cause almost a million cases of fainting and sudden death in Europe and America each year.

In many cases these pathologies do not coincide with any structural cardiac abnormalities or abnormalities in the basal electrocardiogram (ECG), making them even more difficult to diagnose.

Hereditary arrhythmias can be connected to the following syndromes: Brugada, Long QT, Short QT, arterial fibrillation, catecholaminergic polymorphic ventricular tachycardia Wolff-Parkinson-White. This pathology group is caused by mutations in over 70 genes.

Thoracic aortic aneurysm and dissection (TAAD) is the fifteenth most common cause of death in the USA, causing around 15,000 deaths per year. 20% of people with TAAD have a close family member with a thoracic aortic disease.

The main cardiovascular manifestations of thoracic aortic aneurysm and dissection (TAAD) include: dilation of the ascending thoracic aorta, thoracic aortic dissection. This includes Marfan, Vascular Ehlers-Danlos and Loeys-Dietz syndromes, among others.

Aortic aneurisms in the family can be associated with aneurisms in other arteries, especially in the abdominal aorta (12%), the cerebral arteries (9 to 14%) and in peripheral arteries such as the iliac and popliteal arteries (5%).

We are currently aware of mutations in over 20 genes associated with this type of cardiovascular disease.

One of the most important factors in coronary ischemic cardiopathology is dyslipidaemias, which are associated with the different abnormalities in the metabolism of lipids and are the main cause of hypercholesterolemia.  Primary dyslipidaemias are caused by genetics, family transmission and are not associated with other diseases. It is well known that there is a relationship between obesity and dyslipidaemia and it is connected to the increase in LDL cholesterol, a decrease in HDL cholesterol and a lower tolerance to glucose, which leads to the formation of atheroma plates causing acute myocardial infarction and acute infarction in the arterial tree.

Dyslipidaemias are caused by mutations in 40 genes.

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