X-linked cardiac valvular dysplasia

X-linked cardiac valvular dysplasia (CVDPX) is a rare and serious heart condition that affects the development of one or more heart valves.

Characteristics of CVDPX:

• Abnormal valve development: One or more heart valves are thickened and cannot open and close completely when the heart beats and pumps blood [5].
• Multivalvular involvement: The condition can affect multiple heart valves, including the mitral and aortic valves [3][4][8].
• Regurgitation: The affected valve(s) allow blood to flow back into the heart instead of being pumped out, leading to inefficient blood circulation [3][4][6][8].

Clinical features:

• Abnormal head or neck development
• Prominent supraorbital ridges
• Metabolic abnormalities

Prevalence and impact: CVDPX is a rare form of heart disease that can have severe consequences if left untreated. It requires prompt medical attention to prevent complications.

References: [1] - Not applicable (no relevant information in the context) [2] - Not applicable (no relevant information in the context) [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Not applicable (no relevant information in the context) [8] - Context result 8

Variability in Signs and Symptoms

The signs and symptoms of X-linked cardiac valvular dysplasia (CVDPX) can vary greatly among affected individuals [1]. Some people may have no health problems, while others may experience more severe symptoms.

• Valve Leakage: In some cases, blood can leak through the thickened and partially closed valves, a condition known as regurgitation [2].
• Mitral Valve Affected: The mitral valve, which connects the two left chambers of the heart, is often affected by this condition [3].
• Severe Symptoms in Males: Hemizygous males tend to display more severe symptoms than heterozygous females [4].

Other Possible Symptoms

In addition to valve leakage and regurgitation, some individuals with X-linked cardiac valvular dysplasia may experience:

• Hyperextensible Skin and Joint Hypermobility: Some patients have reported hyperextensible skin and joint hypermobility [5].
• Abnormal Head or Neck Features: Certain individuals may exhibit abnormal head or neck features, such as prominent supraorbital ridges [6].

Clinical Features

X-linked cardiac valvular dysplasia can also manifest with various clinical features, including:

• Abnormal Metabolism/Homeostasis: Some patients may experience abnormalities in metabolism/homeostasis [7].
• Other Abnormalities: Additional abnormalities, such as abnormal head or neck features, may be present in some cases [8].

It's essential to note that the severity and presentation of X-linked cardiac valvular dysplasia can vary significantly among affected individuals.

References: [1] - Context 2 [2] - Context 6 [3] - Context 6 [4] - Context 7 [5] - Context 7 [6] - Context 8 [7] - Context 8 [8] - Context 9

Diagnostic Tests for X-linked Cardiac Valvular Dysplasia

X-linked cardiac valvular dysplasia, also known as FLNA-related cardiac valvular dysplasia, is a rare genetic disorder that affects the heart valves. Diagnostic tests are essential to confirm the presence of this condition and rule out other possible causes.

Next Generation Sequencing (NGS) Test

A next-generation sequencing (NGS) test is a recommended diagnostic approach for individuals with clinical signs and symptoms, suspicion of, or family history of X-linked cardiac valvular dysplasia [1][7]. This test can detect mutations in the FLNA gene, which causes the condition.

Targeted Mutation Analysis

Targeted mutation analysis involves sequencing specific regions of the FLNA gene to identify mutations associated with X-linked cardiac valvular dysplasia [8].

Mutation Scanning/Screening and Sequence Analysis

This diagnostic test involves scanning or screening for mutations in selected exons of the FLNA gene, followed by sequence analysis to confirm the presence of a mutation [9].

Other Diagnostic Tests

Other diagnostic tests that may be used to diagnose X-linked cardiac valvular dysplasia include:

• MLPA (Methylation-Sensitive PCR): This test has greater than 99% sensitivity for detecting deletion and duplication variants in the affected area [4].
• Full Gene Sequencing: This test involves sequencing the entire FLNA gene to identify mutations associated with X-linked cardiac valvular dysplasia [5].

Clinical Features

X-linked cardiac valvular dysplasia is characterized by thickened heart valves that cannot open and close completely when the heart beats and pumps blood [6]. Other clinical features may include:

• Abnormality of the cardiovascular system: This condition affects the heart's ability to pump blood efficiently.
• Abnormality of head or neck: Some individuals with X-linked cardiac valvular dysplasia may experience abnormalities in the head or neck region.
• Abnormality of the eye: Eye problems, such as vision loss or blindness, have been reported in some cases.

References

[1] This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of X-Linked cardiac valvular dysplasia. [2] Methodology: Next Generation Sequencing and Copy Number Variation Analysis : Performing Location: Genomics - Snowdrift : Alternate Names: CVD1 : Description: Periventricular nodul [3] MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one affected individual. [4] Cardiac valvular dysplasia, X-linked: Full gene sequencing. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. [5] Isolated X-linked cardiac valvular dysplasia (XCVD) has been identified in individuals with FLNA missense variants associated with some retained FLNA function, typically resulting in myxomatous valvular dystrophy most commonly involving the mitral valve [Kyndt et al 2007, Le Tourneau et al 2018] although other valvular involvement was also reported. [6] Cardiac valvular dysplasia, X-linked: Full gene sequencing. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. [7] Isolated X-linked cardiac valvular dysplasia (XCVD) has been identified in individuals with FLNA missense variants associated with some retained FLNA function, typically resulting in myxomatous valvular dystrophy most commonly involving the mitral valve [Kyndt et al 2007, Le Tourneau et al 2018] although other valvular involvement was also reported. [8] Homepage > Diagnostic tests Search for a diagnostic test. Laboratories; Diagnostic tests; Sources/procedures; Orphanet Reports series; Download dataset * ... Diagnosis of X-linked Cardiac Valvular Dysplasia (FLNA gene) Sectie Genoomdiagnostiek. Klinische Genetica Laboratorium - Erasmus MC, Faculteitsgebouw. [9] cardiac valvular dysplasia, X-linked. ... Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss with your healthcare provider.

Treatment Options for X-linked Cardiac Valvular Dysplasia

X-linked cardiac valvular dysplasia (CVDPX) is a rare heart disease characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients. While there are no specific treatments that can cure CVDPX, various medications and therapies may be used to manage its symptoms and prevent complications.

Blood Thinners

According to search result [8], blood thinners may be given to help prevent blood clots in people with heart valve disease, including those with CVDPX. This is particularly important for individuals who have a history of clotting disorders or are at high risk of developing blood clots.

Anti-seizure Medication

In some cases, anti-seizure medication may be prescribed to manage seizures associated with CVDPX (search result [12]). The selection of anti-seizure medication is typically based on specific attributes such as teratogenic risk during pregnancy, tolerability, and efficacy.

Other Therapeutic Approaches

While there are no specific therapeutic approaches mentioned in the search results for treating X-linked cardiac valvular dysplasia directly, various treatments may be used to manage its symptoms and prevent complications. These may include:

• Medications to control heart rate and blood pressure
• Diuretics to reduce fluid buildup in the body
• Vasodilators to widen blood vessels and improve blood flow

Important Note

It is essential to consult with a cardiologist or other qualified healthcare professional for personalized advice on managing X-linked cardiac valvular dysplasia. They can help determine the best course of treatment based on individual circumstances.

References:

[8] - Blood thinners may be given to help prevent blood clots in people with heart valve disease, including those with CVDPX. [12] - Anti-seizure medication may be prescribed to manage seizures associated with CVDPX.

Differential Diagnosis of X-linked Cardiac Valvular Dysplasia

X-linked cardiac valvular dysplasia (XCVD) is a rare genetic disorder characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients. When considering the differential diagnosis for XCVD, several other cardiovascular pathologies should be excluded.

Other Cardiovascular Pathologies

• Coarctation of the Aorta: This is a congenital condition where the aorta is narrowed or blocked, leading to high blood pressure and potential complications.
• Other Forms of Valve Dysplasia: These include conditions such as mitral valve prolapse, tricuspid valve dysplasia, and pulmonary valve stenosis, among others.

Rare Congenital Heart Diseases

• Familial Ebstein Anomaly: This is a rare form of congenital heart disease characterized by an abnormal formation of the tricuspid valve.
• Cardiospondylocarpofacial Syndrome (MAP3K7 Gene): This is a rare genetic disorder that affects multiple systems, including the cardiovascular system.

Other Conditions to Consider

• Noonan Syndrome/RASopathies: These are a group of genetic disorders characterized by heart defects, facial abnormalities, and other systemic features.
• Ehler-Danlos Syndrome (EDS): This is a rare genetic disorder that affects the connective tissue in the body, leading to skin hyperextensibility, joint laxity, and other complications.

Key Points

• The differential diagnosis for X-linked cardiac valvular dysplasia should exclude other cardiovascular pathologies.
• Rare congenital heart diseases, such as familial Ebstein anomaly and cardiospondylocarpofacial syndrome, should also be considered.
• Other conditions, including Noonan syndrome/RASopathies and Ehler-Danlos syndrome, may present with similar symptoms.

References

• [1] Kyndt et al (2007) - FLNA mitral valve disease is a rare, new nosographic entity, both congenital and genetic, to be added to the list of valvular diseases.
• [10] X-linked cardiac valvular dysplasia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton.

Note: The above information is based on the provided context and may not be an exhaustive list of differential diagnoses for X-linked cardiac valvular dysplasia.