Mitral valve prolapse, familial, X linked

Mitral valve prolapse, familial, X-linked
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Palpitations, chest pain, fatigue
Complications	Mitral regurgitation, arrhythmias
Onset	Variable
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Echocardiogram, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Monitoring, medication, surgery
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Mitral valve prolapse, familial, X-linked is a genetic condition characterized by the abnormal displacement of the mitral valve leaflets into the left atrium during systole. This condition is inherited in an X-linked pattern, meaning the gene responsible for the disorder is located on the X chromosome.

Pathophysiology

The mitral valve is one of the four valves in the heart, located between the left atrium and the left ventricle. In mitral valve prolapse (MVP), the valve leaflets bulge (prolapse) into the left atrium during the contraction of the heart. This can lead to mitral regurgitation, where blood leaks backward into the atrium.

In the familial, X-linked form of MVP, the condition is caused by mutations in genes located on the X chromosome. These mutations affect the connective tissue of the valve, leading to its abnormal structure and function.

Clinical Presentation

Patients with mitral valve prolapse, familial, X-linked may present with a variety of symptoms, including:

• Palpitations
• Chest pain
• Fatigue
• Dizziness

Some individuals may remain asymptomatic and are diagnosed incidentally during a routine examination.

Diagnosis

The diagnosis of mitral valve prolapse is typically made using an echocardiogram, which can visualize the prolapse of the mitral valve leaflets. In familial cases, genetic testing may be performed to identify mutations on the X chromosome.

Management

Management of mitral valve prolapse, familial, X-linked includes:

• Regular monitoring with echocardiograms to assess the severity of the prolapse and any associated regurgitation.
• Medications such as beta-blockers to manage symptoms like palpitations.
• Surgical intervention may be necessary in severe cases, particularly if significant mitral regurgitation develops.

Prognosis

The prognosis for individuals with mitral valve prolapse, familial, X-linked varies. Many individuals live normal lives with minimal symptoms, while others may develop complications such as significant mitral regurgitation or arrhythmias.

Genetic Counseling

Since this condition is inherited in an X-linked manner, genetic counseling is recommended for affected families. Males are typically more severely affected than females due to the presence of only one X chromosome.

Also see

• Mitral valve prolapse
• Mitral regurgitation
• Echocardiography
• Genetic counseling

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