MASS syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = MASS syndrome | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = MASS syndrome is inherited in an [[autosomal dominant]] pattern. | |||
| 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 = [[Marfan syndrome]], [[Ehlers-Danlos syndrome]] | |||
| prevention = | |||
| treatment = [[Beta blockers]], [[angiotensin receptor blockers]] | |||
| medication = | |||
| prognosis = Generally good with management | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{DISPLAYTITLE:MASS Syndrome}} | {{DISPLAYTITLE:MASS Syndrome}} | ||
'''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. | '''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 == | == Clinical Features == | ||
Individuals with MASS syndrome may present with a variety of symptoms, which can include: | 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. | * '''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. | * '''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). | * '''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). | * '''Skin involvement''': Skin may be hyperextensible and may show striae (stretch marks). | ||
== Genetics == | == 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. | 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 == | ||
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. | 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 == | ||
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. | 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 == | == Related Conditions == | ||
MASS syndrome is related to other connective tissue disorders, such as: | MASS syndrome is related to other connective tissue disorders, such as: | ||
* [[Marfan syndrome]] | * [[Marfan syndrome]] | ||
* [[Ehlers-Danlos syndrome]] | * [[Ehlers-Danlos syndrome]] | ||
* [[Loeys-Dietz syndrome]] | * [[Loeys-Dietz syndrome]] | ||
== See also == | |||
== | |||
* [[Connective tissue disease]] | * [[Connective tissue disease]] | ||
* [[Mitral valve prolapse]] | * [[Mitral valve prolapse]] | ||
* [[Aortic aneurysm]] | * [[Aortic aneurysm]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Connective tissue diseases]] | [[Category:Connective tissue diseases]] | ||
Revision as of 04:29, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 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:
