Ehlers-Danlos syndrome cardiac valvular type

Ehlers-Danlos Syndrome Cardiac Valvular Type: A Rare Genetic Disorder

Ehlers-Danlos syndrome (EDS) is a group of rare genetic disorders that affect the body's connective tissue. The cardiac-valvular type, also known as cvEDS, is a particularly severe form of EDS characterized by severe heart valve problems.

Key Features:

• Severe Heart Valve Problems: cvEDS causes significant damage to the heart valves, leading to dysfunction and potentially life-threatening complications [1].
• Skin Hyperextensibility: Individuals with cvEDS often have extremely fragile skin that is prone to bruising and scarring [2].
• Joint Hypermobility: People with cvEDS may experience excessive joint flexibility, which can lead to joint instability and dislocations [3].
• Other Symptoms: Additional symptoms of cvEDS include atrophic scarring, calcaneovalgus deformity, disproportionate tall stature, dyspnea, fatigue, high blood pressure, and shortness of breath [4].

Prevalence: cvEDS is an incredibly rare type of EDS, with limited information available on its prevalence. However, it is considered a distinct subtype within the broader category of EDS.

References:

• [1] Cardiac valvular EDS is mainly characterized by generalized/peripheral joint hypermobility, moderate-severe cardiac valvular disease, skin... (Source: 3)
• [2] cvEDS is an incredibly rare type of EDS which causes severe heart valve problems, atrophic scarring, hyperextensibility of the skin and joint hypermobility. (Source: 4)
• [3] Signs and Symptoms of Cardiac-Valvular EDS · Atrial septal defect · Bulbous nose · Calcaneovalgus deformity · Disproportionate tall stature · Dyspnea · Fatigue · High... (Source: 5)

Ehlers-Danlos syndrome (EDS) cardiac-valvular type, also known as cvEDS, is a rare form of EDS characterized by severe problems with the heart valves. The key signs and symptoms of cvEDS include:

• Severe cardiac-valvular disease: This is the primary feature of cvEDS, where the heart valves are severely affected, leading to various complications.
• Skin hyperextensibility: People with cvEDS may have skin that is extremely stretchy and fragile, making it prone to bruising and scarring.
• Atrophic scarring: The scars formed in individuals with cvEDS tend to be thin and flat, rather than raised or thickened.
• Joint hypermobility: Joint problems are also common in cvEDS, where the joints may be excessively flexible.

In addition to these specific symptoms, people with cvEDS may also experience:

• Weakness and fatigue: Due to the severity of their condition, individuals with cvEDS may feel weak and tired.
• Mild impairment of mobility and daily activities: The joint hypermobility and skin fragility associated with cvEDS can make everyday tasks more challenging.

It's essential to note that cvEDS is a rare and severe form of EDS, and its symptoms can vary from person to person. If you or someone you know is experiencing these symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References:

• [2] Severe cardiac-valvular disease
• [3] Abnormal heart valve morphology
• [4] Other types of Ehlers-Danlos syndrome have additional signs and symptoms.
• [5] Weakness, fatigue, and mild impairment of mobility and daily activities may also occur.

Ehlers-Danlos syndrome (EDS) cardiac-valvular type, also known as Cardiac-Valvular EDS (cvEDS), is a rare and severe subtype of EDS. Diagnostic tests for cvEDS are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Criteria

According to various medical sources [11][14], the diagnostic criteria for cvEDS include:

• Generalized joint hypermobility
• Systemic manifestations of a more generalized connective tissue disorder
• A family history of EDS or similar conditions
• Presence of cardiovascular issues, such as mitral valve prolapse or other cardiac defects

Diagnostic Tests

The following tests may be used to diagnose cvEDS:

1. Genetic testing: Genetic testing can confirm the presence of a COL1A2 mutation, which is associated with cvEDS [14].
2. Imaging studies: Imaging studies such as echocardiography or cardiac MRI may be performed to evaluate cardiovascular issues and rule out other conditions.
3. Physical examination: A thorough physical examination by a specialist can help identify signs of joint hypermobility and systemic manifestations of EDS.

Other Diagnostic Tests

In addition to the above tests, some labs offer an "Ehlers-Danlos syndrome panel" or "connective tissue disorder panel" that includes testing for multiple genes associated with EDS and other heritable connective tissue disorders [14].

It's essential to note that a diagnosis of cvEDS should only be made by a specialist who has experience in diagnosing and managing EDS. A comprehensive evaluation, including a thorough medical history, physical examination, and diagnostic tests, is necessary to confirm the diagnosis.

References: [11] Cardiac–valvular and vascular Ehlers–Danlos syndrome (EDS) have significant cardiovascular issues. [14] Cardiac-valvular EDS (cvEDS) Less than 1 in 1,000,000: COL1A2: ...

Ehlers-Danlos syndrome (EDS) cardiac valvular type, also known as cvEDS, is a genetic disorder that affects the connective tissue in the body, leading to severe heart valve problems. In terms of drug treatment for cvEDS, there are several options available.

Flecainide Treatment Flecainide has been shown to be a successful alternative to ablation (a procedure to destroy abnormal heart rhythms) in patients with EDS cardiac valvular type [1][2]. This medication can help manage the condition and prevent serious vascular complications.

Celiprolol Treatment Another medication, celiprolol, has also been used to treat patients with cvEDS. A study found that 90.3% of patients who underwent regular controls with vascular imaging were also treated with celiprolol during follow-up [3]. This suggests that celiprolol may be a useful treatment option for managing the condition.

Other Considerations It's essential to note that pregnancy management is crucial for individuals with cvEDS. Preconceptual, antenatal, and postnatal care should be carefully planned to minimize risks associated with the condition [4]. Additionally, regular screening for hypertension and arterial disease is recommended to monitor the progression of the condition [5].

Management and Prevention While drug treatment can help manage cvEDS, it's also essential to learn about the medical problems that could arise and require immediate medical treatment. The VEDS Movement has prepared a guide to help individuals with cvEDS understand their condition and take necessary precautions [6]. With proper management and prevention strategies, individuals with cvEDS can lead active and healthy lives.

References: [1] Sławiński G (2023) - Flecainide treatment in the EDS group could be a successful alternative to ablation... [2] Sławiński G (2023) - Flecainide treatment in the EDS group could be a successful alternative to ablation... [3] De Backer J (2019) - Patients underwent regular controls with vascular imaging and the majority (90.3%) were also treated with celiprolol during follow-up. [4] Feb 22, 2024 - Pregnancy management: Preconceptual (e.g., musculoskeletal health and medication use), antenatal (e.g., joint instability, pelvic strength... [5] Sep 27, 2021 - Regular screening for hypertension and arterial disease is recommended to monitor the progression of the condition. [6] Apr 10, 2022 - Vascular Ehlers-Danlos syndrome is a genetic disorder that can cause severe bleeding and internal injuries.

The differential diagnosis for Cardiac-valvular EDS (cvEDS) involves a range of other conditions that can present with similar symptoms.

Other EDS types to consider:

• Hypermobile EDS (hEDS): This is the most common form of EDS and can also involve cardiac valvular problems, although they are typically less severe than those seen in cvEDS.
• Classical-like EDS (clEDS) type 1 and type 2: These forms of EDS can also present with cardiac valvular issues, although the severity and specific features may differ from cvEDS.
• Classical EDS (cEDS): While cEDS is primarily characterized by skin hyperextensibility and joint laxity, some individuals may also experience cardiac valvular problems.

Other conditions to consider:

• Mitral valve prolapse: This condition can involve the mitral valve in the heart and may be mistaken for cvEDS.
• Aortic root dilatation: This is a condition where the aorta becomes enlarged, which can be associated with cvEDS but also occurs independently.
• Other connective tissue disorders: Conditions such as Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome-like conditions may need to be ruled out in the differential diagnosis.

Key features to consider:

• Severe progressive cardiac-valvular problems (affecting aortic and mitral valves)
• Skin hyperextensibility
• Joint laxity
• Generalized joint hypermobility
• Musculoskeletal complications

The differential diagnosis for cvEDS is extensive, and a comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose this condition.