MASS syndrome

MASS syndrome is a medical condition that affects several parts of the body. The name MASS is an acronym that stands for the four main features of this condition: Mitral valve prolapse, Aortic enlargement, Skin and skeletal findings.

Mitral valve prolapse

Mitral valve prolapse (MVP) is a condition in which the heart's mitral valve doesn't work properly. The mitral valve is a small flap in the heart that prevents blood from flowing backward. In people with MVP, the valve bulges (prolapses) into the heart's left atrium during each heartbeat. This can lead to symptoms such as palpitations, shortness of breath, chest pain, and fatigue.

Aortic enlargement

Aortic enlargement is a condition where the aorta, the main blood vessel that carries blood from the heart to the rest of the body, is larger than normal. This can increase the risk of an aortic aneurysm, a serious condition where the aorta can burst, causing life-threatening bleeding.

Skin and skeletal findings

People with MASS syndrome often have certain skin and skeletal abnormalities. These can include stretch marks, loose skin, and joint hypermobility. Joint hypermobility means that the joints can move beyond the normal range of motion, which can lead to joint pain and an increased risk of dislocations.

Diagnosis

Diagnosis of MASS syndrome is based on the presence of the four main features of the condition. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for MASS syndrome is focused on managing the symptoms and preventing complications. This can include medications to manage heart symptoms, physical therapy for joint issues, and regular monitoring of the aorta to detect any enlargement.

See also

• Marfan syndrome
• Loeys-Dietz syndrome
• Ehlers-Danlos syndrome

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