Connective Tissue Disorders

Need Treatment for a Connective Tissue Disorder? Southern California and Beyond Trusts Hoag for Genetic Diagnosis and Comprehensive Care.

If you live in Southern California or bordering states such as Nevada and Arizona, you need world-renown care for rare connective tissue disorders such as Marfan Syndrome, Loeys-Dietz (LDS), Vascular Ehlers Danlos (vEDS)–you have a powerful friend at Hoag in Orange County, California. The Marfan Syndrome & Related Conditions Clinic at Hoag provides destination medical care for these rare diseases.

Led by David Laing, M.D., PhD., who has spent over 25 years treating and researching rare connective tissue diseases that can impact aortic health, this unique program delivers internationally-recognized care for inherited conditions that can affect the aorta.

For those facing these rare conditions, there’s just no place like Hoag. Read on for more information about rare connective tissue disorders, including types, potential complications and more. Or explore Hoag’s pioneering aortic and genetic programs, including the Elaine & Robert Matranga Aortic Center and Hoag’s Marfan Syndrome and Related Conditions Clinic.

What are the Risks Associated with Connective Tissue Diseases, Including Aortic Issues?

Those with connective tissue disorders often develop aortic issues and a range of other issues, including skeletal issues, facial deformities, short stature, connective tissue weakness, heart valve issues, eye and vision problems and more.

From a cardiovascular standpoint, the aorta and other blood vessels are sometimes weak because the body doesn’t create enough of the proteins that are important to making strong, flexible connective tissues, including those found in aorta, the heart and heart valves. This can also cause a variety of potentially serious aortic issues, including:

• Aortic enlargement: Also known as aortic dilation, aortic enlargement occurs when the aorta becomes stretched and enlarged.
• Aortic aneurysm: An aortic aneurysm is a bulge in the aorta that can become larger over time. These genetic conditions often cause thoracic aortic aneurysm (an aneurysm in the part of the aorta that runs through the chest).
• Aortic rupture: If an aortic aneurysm gets large enough, it can burst (rupture) which can lead to life-threatening bleeding, cardiac arrest and death.
• Aortic dissection: During an aortic dissection, a tear develops in the inner wall of the aorta. This can allow blood to rush between the layers of the aortic wall, peeling the layers apart and increasing the chance of an aortic aneurysm rupture or a dangerous blood clot (embolus). Learn more about aortic dissections from Hoag.

What are the Different Types of Connective Tissue Disorders and Related Conditions?

There are several genetic conditions that can cause issues with the strength and function of the aorta. These include:

Marfan Syndrome

Marfan syndrome is a genetic disorder involving a mutation that prevents the body from creating enough of a protein called fibrillin-1. Fibrillin-1 is important to the creation of strong connective tissues all over the body, including in the walls of the aorta. Without it, these tissues are abnormally weak in Marfan syndrome patients. As a result, some people with the condition have an aorta that is prone to stretching, enlargement and aneurysm. Learn more about Marfan Syndrome from Hoag. 

Loeys–Dietz Syndrome (LDS)

Another connective tissue disorder than can affect the strength and function of the aorta, Loeys-Dietz syndrome also often affects the facial features and bone structure of those with the condition, including issues like a recessed or “weak” chin, wide-spaced or slanted eyes, a blue tint to the eyes and other issues.

Vascular Ehlers-Danlos Syndrome (vEDS)

Ehlers-Danlos Syndrome (EDS) is a group of conditions that are best known for flexibility of the joints. Vascular Ehlers-Danlos syndrome is another genetic disorder that affects the body’s connective tissue.  With vEDS, a gene mutation affects the protein collagen III, which can affect skin, joints, eyes, organs and blood vessels.

Turner Syndrome

Occurring only in those who are female at birth, Turner syndrome is a type of chromosomal disorder. While female babies usually have two X chromosomes, in those born with Turner syndrome, one X chromosome is deleted or mutated. In addition to severe developmental disabilities and skeletal issues, Turner syndrome often causes cardiovascular defects. The condition can also cause issues with the heart’s aortic valve, which regulates blood flow from the heart to the aorta.

Familial Thoracic Aortic Aneurysm and Dissection Syndrome (Familial TAAD)

Familial thoracic aortic aneurysm and dissection, also known as familial TAAD, is an inherited genetic condition that is usually caused by having at least one parent with the condition. In some cases, however, Familial TAAD can occur in those with no known family history of the condition at all. As the name suggests, the weakening of the aorta that’s characteristic of familial thoracic aortic aneurysm and dissection can cause aneurysms or enlargement of the thoracic aorta, which is the portion of the aorta that runs through the chest (also known as the thorax), including the ascending aorta and aortic arch.

A thoracic or abdominal aortic aneurysm can eventually result in a ruptured aneurysm, a life-threatening emergency that usually requires immediate medical attention and treatment. In other cases, the condition can cause the inner layers of the aorta to tear, leading to a potentially deadly condition known as aortic dissection, in which blood rushes between the layers of the aortic wall and peels them apart.

Bicuspid Aortic Valve (BAV)

Bicuspid aortic valve (BAV) is the most common type of congenital aortic valve defect, meaning it is present at birth. Normally, the aortic valve is made up of three fleshy flaps called leaflets or cusps. In those with BAV, the aortic valve has either only two leaflets or three leaflets that are fused causing the valve to act like there are only two leaflets instead of the usual three. A BAV can weaken the aorta’s wall, which can lead to aortic aneurysms and dissection.

What Causes Connective Tissue Disorders?

Connective Tissue Disorders are caused by mutations in a person’s genetic code that impact how the body creates connective tissue. This impacts the body’s ability to create strong, flexible, blood vessels throughout the body, including the aorta.

These mutations can be passed down in families, or — in some cases — they can be experienced by those with no known family history of genetic conditions that affect the aorta.

Around 20 percent of people who experience thoracic aortic aneurysms (TAA) inherited their predisposition for thoracic aortic disease from a family member. While more common than thoracic aneurysms, abdominal aortic aneurysms aren’t usually linked to inherited conditions.

What are the Risk Factors for Connective Tissue Disorders?

The only known risk factor for connective tissue disorders is having a family history of the disease.

How can I Reduce My Risk of Serious Aortic Conditions?

For those who have connective tissue diseases, there are certain steps you can take to know your risk factors and lessen or prevent the most serious aortic symptoms and complications. These may include:

• Regularly see your physicians and consult with cardiovascular specialists: By regularly seeing your doctor or specialists who specialize in the genetic condition you are experiencing, you have a much better chance of catching and treating a cardiac or aortic complication before it can develop into a life-threatening issue. Specialists can also help patients monitor their condition through aortic surveillance, or help control or reduce many of the other symptoms and complications that can result from these conditions, improving quality of life.
• Genetic Counseling: For those with a family history of conditions that can impact the aorta, genetic counseling is a way to fully understand your risk for developing the condition and the chance you might pass it along to your offspring. In Orange County, Hoag offers state-of-the-art genetic testing and counseling services. Learn more about genetic counseling at Hoag.
• Take the necessary steps to maintain good cardiovascular health: Connective tissue disorders can allow the aorta to abnormally stretch under pressure, which can cause a potentially deadly aortic aneurysm or dissection. That makes controlling issues that can cause high blood pressure particularly important for those with these conditions. By getting plenty of exercise, eating a healthy diet that’s low in fats and salt, managing stress and taking high blood pressure medications exactly as directed, patients can potentially avoid the most dangerous and serious complications of genetic aortic issues.

Hoag Offers Comprehensive Care for Connective Tissue Disorders for Patients Across the West Coast

For those in need of treatment for a connective tissue disorder in Southern California and beyond, Hoag’s Marfan Syndrome and Related Conditions Clinic is dedicated to providing expert diagnosis, treatment and ongoing surveillance.

Led by David Laing, M.D., PhD., who has spent over 25 years treating and researching rare connective tissue diseases that can impact aortic health, this unique program delivers internationally-recognized care for inherited conditions that can affect the aorta.

To learn more, contact the Marfan Syndrome and Related Conditions Program at 949-764-8468 or contact us online.