Cardiac valvular dysplasia, X-linked

Cardiac valvular dysplasia, X-linked
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Heart murmur, shortness of breath, fatigue
Complications	Heart failure, arrhythmias
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Echocardiogram, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Medication, surgery
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Cardiac valvular dysplasia, X-linked is a rare genetic disorder characterized by malformations of the heart valves. This condition is inherited in an X-linked manner, meaning the gene responsible for the disorder is located on the X chromosome.

Pathophysiology

Cardiac valvular dysplasia involves the abnormal development of one or more of the heart's valves, which can lead to improper blood flow through the heart. The condition is often associated with mutations in genes that are crucial for the normal development and function of cardiac valves. In X-linked inheritance, males are typically more severely affected than females, as males have only one X chromosome.

Clinical Presentation

Patients with cardiac valvular dysplasia may present with a variety of symptoms depending on the severity of the valve malformations. Common symptoms include:

• Heart murmur
• Shortness of breath
• Fatigue
• Swelling of the legs or abdomen

In severe cases, complications such as heart failure or arrhythmias may occur.

Diagnosis

Diagnosis of cardiac valvular dysplasia typically involves:

• Echocardiogram: An ultrasound of the heart to visualize valve structure and function.
• Genetic testing: To identify mutations in genes associated with the condition.

Management

Management of cardiac valvular dysplasia may include:

• Medications to manage symptoms and prevent complications, such as diuretics or beta-blockers.
• Surgical intervention to repair or replace affected valves in severe cases.

Prognosis

The prognosis for individuals with cardiac valvular dysplasia varies depending on the severity of the valve malformations and the presence of any complications. Early diagnosis and appropriate management can improve outcomes.

Genetics

The X-linked pattern of inheritance means that the condition is passed down through the X chromosome. Males (XY) are more likely to be affected, while females (XX) may be carriers and have milder symptoms.

Also see

• Congenital heart defect
• Heart valve disease
• X-linked recessive inheritance

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