MASS syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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MASS syndrome
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Mitral valve prolapse, Aortic root dilation, Skeletal abnormalities, Skin striae
Complications
Onset
Duration
Types
Causes	Mutations in the FBN1 gene
Risks
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Marfan syndrome, Ehlers-Danlos syndrome
Prevention
Treatment	Beta blockers, angiotensin receptor blockers
Medication
Prognosis	Generally good with management
Frequency	Rare
Deaths

MASS syndrome is a connective tissue disorder that shares some features with Marfan syndrome, but is considered a distinct clinical entity. The acronym MASS stands for Mitral valve prolapse, Aortic root diameter at the upper limits of normal, Skeletal features, and Skin involvement. It is an autosomal dominant condition, meaning it is inherited in a pattern where only one copy of the altered gene is sufficient to cause the disorder.

Clinical Features

Individuals with MASS syndrome may present with a variety of symptoms, which can include:

• Mitral valve prolapse: A condition where the valve between the heart's left atrium and left ventricle doesn't close properly.
• Aortic root diameter: The aorta may be slightly enlarged, but not to the extent seen in Marfan syndrome.
• Skeletal features: These can include a tall stature, long limbs, and arachnodactyly (long, slender fingers).
• Skin involvement: Skin may be hyperextensible and may show striae (stretch marks).

Genetics

MASS syndrome is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. This protein is essential for the formation of elastic fibers found in connective tissue. The condition is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene can cause the syndrome.

Diagnosis

Diagnosis of MASS syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing can confirm mutations in the FBN1 gene, but this is not always necessary for diagnosis.

Management

Management of MASS syndrome involves regular monitoring of the cardiovascular system, particularly the heart valves and aorta. Patients may require echocardiograms to assess the mitral valve and aortic root. Lifestyle modifications and medications may be recommended to manage symptoms and reduce the risk of complications.

Related Conditions

MASS syndrome is related to other connective tissue disorders, such as:

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

See also

• Connective tissue disease
• Mitral valve prolapse
• Aortic aneurysm