Marfan, Loeys-Dietz, VEDS, and Related Conditions
Marfan, Loeys-Dietz (LDS), and Vascular Ehlers-Danlos syndrome (VEDS) are genetic conditions that affect the body’s connective tissue and as a result cause weakening of the arteries. Because connective tissue is everywhere, eyes, bones, joints and lungs can also be affected.
Marfan, LDS, VEDS, and some related conditions are serious and complications can be potentially life-threatening. Because of some similarities between conditions, affected people struggle with the same or similar physical problems. It is important to get an early and accurate diagnosis to learn about recommended treatments, be prepared for surgery and take special precautions for physical activity and other situations like pregnancy. Although there is no cure for for these conditions, advances in medical care are helping people live a normal lifespan.
Explore the Links Below to Learn More About Genetic Aortic and Vascular Conditions and How They Are Treated and Cared For
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What is Marfan Syndrome?
Marfan syndrome is a life-threatening genetic condition that results in aortic enlargement and affects different parts of the body including the bones, joints, eyes and lungs.
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What is Neonatal Marfan Syndrome?
Neonatal Marfan syndrome is a different entity than Marfan syndrome. It has early onset and rapidly progressive features, most seriously related to the heart, lungs, and airways.
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What is Loeys-Dietz Syndrome?
Loeys-Dietz syndrome involves aortic enlargement, as well as aneurysms in different areas of the body. It also affects the bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.
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What is Vascular Ehlers-Danlos Syndrome (VEDS)?
VEDS is a life-threatening connective tissue condition that affects the arteries, hollow organs, lungs, and other tissues in the body.
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What is Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)?
Kyphoscoliotic EDS is a form of Ehlers-Danlos syndrome that is associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), vascular fragility and aortic root enlargement.
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What is Stickler Syndrome?
Stickler syndrome is a genetic condition that can cause vision, hearing and joint problems. It is the most common cause of retinal detachment in children.
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What is Beals Syndrome?
Joint contractures is a key feature of Beals syndrome which inhibits the extension of joints like their fingers, elbows, knees, toes, and hips. Aortic enlargement is also a notable feature.
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What is a Bicuspid Aortic Valve?
People with a bicuspid aortic valve have two leaflets instead of three. There is also a tendency for aortic enlargement.
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What is Ectopia Lentis Syndrome?
Ectopia lentis syndrome is an inherited connective tissue disorder that shares some of the features of Marfan syndrome – particularly lens dislocation of the eye, which can cause serious vision problems.
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What is Ehlers-Danlos Syndrome?
Ehlers-Danlos syndrome is a group of genetic connective tissue condition characterized by unstable, hypermobile joints, loose, “stretchy” skin, and fragile tissues.
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What is Familial Thoracic Aortic Aneurysm and Dissection?
Aortic enlargement (dilatation) is generally the first feature of familial thoracic aortic aneurysm and dissection to develop and is due to a genetic predisposition.
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What is Mass Phenotype?
People with MASS Phenotype have mitral valve prolapse, nearsightedness, slight aortic enlargement, stretch marks and skeletal features like scoliosis.
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What is Shprintzen-Goldberg Syndrome?
Shprintzen-Goldberg syndrome is a genetic condition that have a combination of unique facial features and skeletal and neurological abnormalities.
Know the Signs of Genetic Aortic and Vascular Conditions
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Key Features of Marfan Syndrome
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Key Features of Neonatal Marfan Syndrome
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Key Features of Loeys-Dietz Syndrome
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Key Features of Vascular Ehlers-Danlos Syndrome (VEDS)
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Key Features of Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)
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Key Features of Stickler Syndrome
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Key Features of Beals Syndrome
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Key Features of Bicuspid Aortic Valve
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Key Features of Ectopia Lentis Syndrome
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Key Features of Ehlers-Danlos Syndrome
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Key Features of Familial Thoracic Aortic Aneurysm and Dissection
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Key Features of Mass Phenotype
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Key Features of Shprintzen-Goldberg Syndrome
Getting Diagnosed with a Genetic Aortic Condition
All genetic aortic conditions are serious, potentially life-threatening conditions, and an early, accurate diagnosis is essential. These conditions can shorten lives, particularly when they go unchecked. The can also deeply affect the quality of life of the individuals and families who must cope with them.
A diagnosis can often be made after exams of several parts of the body by doctors experienced with genetic aortic and vascular conditions, including:
- A detailed medical and family history.
- A complete physical examination.
- Echocardiogram. This test looks at your heart, its valves, and the aorta (blood vessel that carries blood from the heart to the rest of the body).
- Electrocardiogram (EKG). This test checks your heart rate and heart rhythm.
- An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils.
- Other tests, such as a computerized tomography (CT) scan or magnetic resonance imaging (MRI) to scan the additional arteries.
- Genetic testing can provide helpful information in some cases.
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What should you do if you think you might have Marfan syndrome or a related condition?
We recommend:
Emergency Preparedness
Following your doctor’s recommendations for medication, monitoring, and physical activity gives you the best chance of avoiding a serious complication of Marfan syndrome or any of the related conditions. Still, there are no guarantees. That’s why it’s important for you to learn about the medical problems that could arise and require immediate medical treatment.
The most serious of these problems involve the heart and blood vessels, but there are other problems involving the eyes and lungs that also need emergency treatment.
To help prepare you for these situations, we recommend that you complete our Emergency Preparedness Kit, which we created specifically for people with Marfan syndrome and related conditions. It includes our Emergency Alert Card which you can download and carry in your wallet. You can click below to download them.
Together, We Can Know the Signs
and Fight for Victory
