Consultation hours for aortic diseases and connective tissue weakness
Connective tissue - important for the aorta, heart valves and cardiovascular system
Weak connective tissue in the heart can cause enlargement (aneurysm) or rupture of the aorta (dissection), leaky heart valves (e.g. mitral valve prolapse), cardiac insufficiency and/or a tendency to circulatory instability, which manifests itself as dizziness on standing (POTS syndrome). We therefore monitor the aorta, heart valves and heart muscle by ultrasound as part of our consultation for aortic diseases and connective tissue and, depending on the findings, suggest further examinations for clarification (genetics, orthopaedics, rheumatology and more).
How does a connective tissue weakness develop and how does an enlarged aorta occur?
First of all, there are congenital, genetic connective tissue diseases, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndrome. Smoking, high blood pressure and obesity also increase the risk of the disease. Of course, this applies all the more if there is a genetic predisposition. Genes can influence the structure of the aortic wall, the heart valves and the heart muscle and the elastic fibers in the wall can become brittle as a result. In this case, the aorta can dilate faster than in healthy people and a so-called aortic aneurysm can develop. Tears can also occur in the area of an artery (dissection). Accordingly, in the case of an aortic aneurysm or a conspicuous weakness of the connective tissue, genetic testing is usually recommended nowadays. We carry out appropriate checks using cardiac ultrasound and, if necessary, MRI or computer tomography. We will then discuss the best treatment with you. In the case of an aneurysm requiring surgery, for example, we will refer you to the cardiac surgeons who have the most experience in this field.
Marfan syndrome
In Marfan syndrome, a mutation of the fibrillin 1 gene causes changes throughout the body, for example in the eyes, teeth, head shape, skeleton, lungs, heart valve or aorta. The size of the aorta is now carefully monitored using echocardiography and MRI/CT; if necessary, the aorta can be replaced in good time before a dissection occurs. As a result, patients today have a significantly longer life expectancy than in the past, as the dreaded aortic dissections, where the walls of the aorta tear, are much rarer if timely intervention is possible.
Loeys-Dietz syndrome
In Loeys-Dietz syndrome, mutations in at least six different genes lead to an impressive weakness of the connective tissue. In addition to an enlarged aorta, other problems can also occur more frequently, such as mitral valve prolapse, i.e. a leaky heart valve, clubfeet, spinal disorders such as scoliosis, a split neck, osteoarthritis, etc.
Regular checks of the aorta are also important here, which can be carried out using echocardiography and, if necessary, magnetic resonance examinations.
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome (EDS) is a very heterogeneous clinical picture. There are three forms: classic, hypermobile and vascular EDS. The joints of EDS patients are often abnormally mobile (hypermobility), occasionally wound healing is impaired and, very rarely in vascular Ehlers-Danlos syndrome, there are also tears in organs, for example in the aorta, intestine or uterus. In vascular EDS, the skin, veins and organs are therefore very vulnerable. Genetic testing is only occasionally recommended for classic EDS, but is usually mandatory if vascular EDS is suspected. Echocardiography is not necessary in the case of frequently occurring hypermobile EDS. 50% of patients with EDS exhibit POTS syndrome, i.e. an excessive increase in heart rate when standing, usually without a drop in blood pressure.
The connective tissue of the aorta is occasionally weakened in EDS and can lead to an enlarged aorta, which in turn is associated with complications. It is therefore important to closely monitor patients with EDS and treat them quickly and appropriately if necessary. With us, you will always be accompanied by the doctors you trust and the same nursing staff. So you are always in the best hands.
