Many have speculated that Abraham Lincoln had Marfan syndrome because of his height, his stooped posture, his long limbs, and certain other aspects of his appearance.
Bicuspid Aortic Valve
Bicuspid aortic valve is an abnormal formation of the aortic valve. Approximately two percent of the population has a bicuspid valve. Often patients will have an awareness of its presence, as they were found to have a murmur during a routine physical examination. Bicuspid valves tend to wear out sooner than trilealfet valves, as blood passes through the leaflets with more turbulence. These valves also have a tendency to leak earlier than trileaflet valves. In about half of patients with bicuspid valve disease, an aortic root aneurysm begins to develop by age 30. The rate of growth is variable, but by age 30-50, many patients have developed an aneurysm of significant size. In these patients, the aneurysm develops not because of the valve, but because of a genetic defect in the ascending aorta. Any procedure to address the valve must also address the aortic aneurysm.
Ehlers-Danlos Syndromes are a group of genetic disorders that share features such as easy bruising, loose and flexible joints, fragile skin, and weakened connective tissues. Among the subgoups of the syndrome is the vascular type, which is characterized by rupture of the arteries and bowel, clubfoot, and other manifestations. Other types of Ehlers-Danlos syndromes include those marked by hypermobility of the joints, skin laxity, fragile globe of the eyes, spine curvature, and other features. People with Ehlers-Danlos syndrome are at risk for aortic aneurysm because of weakening in the wall of the aorta.
Familial Thoracic Aortic Aneurysm And Dissection
Familial thoracic aortic aneurysm and dissection (familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest. Other vessels that carry blood from the heart to the rest of the body can also be affected.
In familial TAAD, the aorta can become weakened and stretched leading to an Aortic dilatation, that may lead to a sudden tearing of the layers in the aorta wall and aortic dissection allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open and rupture.
Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions as Marfans syndrome, or Loeys-Diestz syndrome. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdominal aorta. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.
Risk for Vascular Problems Varies
The risk of significant vascular problems varies by each disorder, by vascular health factors such as smoking, hyper-homocysteniamia and your genetics.
On-Going Monitoring can Help
If you are diagnosed with a VCTD, you may need ongoing monitoring to head off or treat any possible vascular problems. Many patients with a VCTD have no symptoms until their 20s or 30s.
Characteristic Signs of VCTDS
They are associated with characteristic facial, skeletal, eye and skin features.
Chest pain is often the first sign of an underlying vascular CTD.
Easy Bruising with an Orthopaedic issues at a Very Young age
Easy bruising, hyper-flexibility, and orthopaedic issues in a very young child may signal an elevated risk for vascular CTD.
All vascular CTDs are caused by specific genetic mutations that adversely affect the main building blocks of the human body: fibrillin, collagen, and elastin protein molecules.
If you experience any of the symptoms above, see a vascular surgeon who has training in genetic medicine for an evaluation.
The Role of Clinical genetic testing in estabilshimg a diagnosis remains limited because more than 500 mutations have been found and 90% of the mutations are unique within a pedigree.
Treatment options depend on the specific type of CTD and associated vascular problems.Target of resting pulse rate must be below 60 and blood pressure of 120/80 must be achieved. We recommed Celiprolol 200 mg twice daily.
- See your vascular surgeon regularly to check your vascular and overall health, including your Heamocystine level, D dimer, osteopoitin, osteoprogen , Direct renin ,Aldosterone level, FBN1, COL3A1, Proa1(III) .
- If you need ongoing testing to look for aneurysms, ask about ways to avoid medical radiation exposure associated with some tests, such as echocardiograms or magnetic resonance angiogram (MRA) tests.
- If you smoke, ask your vascular surgeon to help you find a smoking cessation program that will work for you.
- Exercise safely and regularly, avoid over strecthing or lifting weights . Ask your doctor for guidance.