Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

What is Marfan syndrome syndrome?

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

Is pectus excavatum Marfan syndrome?

Marfan’s syndrome is associated with abnormal costochondral cartilage formation and pectus excavatum. Aortic dilatation is more common in the presence of pectus excavatum and its complications are a significant cause of morbidity and mortality in Marfan’s syndrome.

Is Marfan syndrome a deformity?

Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the Marfan gene inherited from one parent is sufficient to have the condition. Defects or deletions (pathogenic variants) of the fibrillin-1 (FBN1) gene have been shown to cause Marfan syndrome.

Are there different types of Marfan syndrome?

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.

What is Marfan syndrome diagnosis?

If your doctor suspects Marfan syndrome, one of the first tests he or she may recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta.

What does a person with Marfan syndrome look like?

People with Marfan syndrome are often very tall and thin. Their arms, legs, fingers and toes may seem out of proportion, too long for the rest of their body. Their spine may be curved and their breastbone (sternum) may either stick out or be indented. Their joints may be weak and easily become dislocated.

Is Marfan syndrome pleiotropic?

Pleiotropic genes and health Where a genetic condition affects multiple tissues or organs, this can often be the result of pleiotropy. An example would be Marfan syndrome, which is caused by variation in the FBN1 gene. People with Marfan syndrome tend to be tall with long thin fingers, toes and limbs.

What type of mutation causes Marfan syndrome?

Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils.

How does Marfan syndrome affect the skeletal system?

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, “spider-like” fingers. They may also have other skeletal malformations that require the attention of an orthopaedic specialist.

How long is the average lifespan of a person with Marfan syndrome?

The leading cause of death in Marfan syndrome is heart disease. One in 10 patients may have a high risk of death with this syndrome due to heart problems. Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years.

Who has Marfan syndrome?

About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it.

What types of treatments are there for Marfan syndrome?

There’s currently no cure for Marfan syndrome. Treatment focuses on managing the symptoms and reducing the risk of complications.

  • a geneticist – a specialist in genetic disorders.
  • a genetic counsellor – who provides information, emotional support and guidance to people who have been diagnosed with a genetic condition.

What is the ICD 10 code for Marfan syndrome?

^ “Marfan Syndrome”. The Lecturio Medical Concept Library. Retrieved 10 August 2021. ^ Kohlmeier L, Gasner C, Bachrach LK, Marcus R (October 1995). “The bone mineral status of patients with Marfan syndrome”. Journal of Bone and Mineral Research. 10 (10): 1550–1555. doi: 10.1002/jbmr.5650101017. PMID 8686512. S2CID 23492402.

What is the latest revision to the Marfan syndrome diagnosis?

This is the latest accepted revision, reviewed on 15 November 2019. Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes.

What is the prevalence of lung problems in Marfan syndrome?

Individuals with Marfan Syndrome may be affected by various lung-related problems. One study found that only 37% of the patient sample studied (mean age 32±14 years; M 45%) had normal lung function. Spontaneous pneumothorax is common.

What is the CID number for Marfan syndrome?

S2CID 23492402. ^ Northwestern Memorial Center for Heart Valve Disease. Marfan syndrome Archived 2012-04-22 at the Wayback Machine ^ “Pneumothorax”.