Cardiac-Valvular Ehlers-Danlos Syndrome Treatment in Dubai

Cardiac-Valvular Ehlers-Danlos Syndrome (cvEDS)

Ehlers-Danlos Syndrome (EDS) consists of a set of related connective tissue disorders consisting of varying skin elasticity, joint looseness and increased tissue vulnerability. CvEDS or Cardiac-Valvular Ehlers-Danlos Syndrome is one of the rarest, as well as most severe, subtypes of EDS, which affects the heart valves predominantly.

To learn about cvEDS, one must learn about its genetic background, symptoms, diagnostic criteria, treatment, and even the current research that is being done.

A Basic Overview About cvEDS:

Cardiac-Valvular Ehlers-Danlos Syndrome is an inherited disorder and its inheritance pattern is autosomal recessive, so for the disease to manifest the individual has to inherit two copies of the affected gene, one from both parents. The condition is mainly linked to genetics through mutations in the COL1A2 gene. This gene codes for the pro alpha 2 chain of type I collagen which is a structural protein employed in connective tissues of the body such as the heart valves, skin, bones, and blood vessels.

Heredity disorders of the COL1A2 gene reduce the strength of connective tissues because type I collagen is synthesised and structured abnormally. In cvEDS, the defective collagen is mainly apparent in the atrioventricular valves, which by and large contribute to massive valvular pathology. The valves least affected include the tricuspid and pulmonary valves making the progression of valve insufficiency worse especially when it affects the aortic and mitral valves.

What are the Clinical Features?

The hallmark feature of cvEDS is progressive cardiac valvular disease. Patients typically present with aortic and mitral valve regurgitation, where the valves fail to close properly, causing blood to flow backwards into the heart. Over time, this can lead to heart enlargement (dilatation) and heart failure. The clinical presentation often includes:

Cardiac Manifestations:

  • Aortic Valve Regurgitation: occurs when the aortic valve does not close tightly, allowing blood to flow back into the left ventricle from the aorta. Symptoms include shortness of breath, fatigue, and palpitations.
  • Mitral Valve Regurgitation: Similar to aortic regurgitation, this condition involves the backflow of blood from the left ventricle into the left atrium due to improper closure of the mitral valve. It can cause symptoms like shortness of breath, especially when lying down, and swelling in the legs and ankles.
  • Cardiomegaly: The heart may enlarge due to the increased workload from the valvular insufficiencies.
  • Heart Failure: Progressive valve disease can eventually lead to heart failure, characterised by the heart’s inability to pump blood efficiently, resulting in symptoms such as fluid retention, shortness of breath, and extreme fatigue.

Systemic Features:

  • Skin Hyperextensibility: The skin can stretch more than usual and may appear velvety or fragile, leading to easy bruising and scarring.

  • Joint Hypermobility: Joints may be unusually flexible, increasing the risk of dislocations and chronic joint pain.

  • Tissue Fragility: Individuals with cvEDS often have fragile tissues, making them more prone to injuries, tears, and poor wound healing.

Additional Symptoms:

Here are some additional symptoms:

  • Muscle Weakness
  • Skeletal Abnormalities
  • Vascular Complications

How To Diagnose It?

Diagnosing cvEDS requires a comprehensive approach, combining clinical evaluation, family history, and genetic testing. Key diagnostic steps include:

1. Clinical Evaluation:

  • A thorough physical examination to assess skin, joint, and cardiovascular features.
  • Echocardiography An essential tool for evaluating the structure and function of the heart valves. It helps in detecting valve regurgitation and measuring heart dimensions.
  • In some cases, a skin biopsy may be performed to examine the collagen structure under a microscope, which can provide supportive evidence for EDS diagnosis.

2. Genetic Testing:

  • Molecular Genetic Testing – The definitive diagnosis of cvEDS is confirmed through genetic testing, and identifies mutations in the COL1A2 gene. This involves sequencing the gene to detect any pathological variants.

3. Family History:

  • Reviewing the patient’s family history can provide clues to an autosomal recessive inheritance pattern, which is indicative of cvEDS.

How to Manage and Get a Treatment?

Managing cvEDS requires a multidisciplinary approach, focusing on mitigating cardiac complications, preventing injury, and improving the quality of life. Since there is no cure for cvEDS, treatment is symptomatic and supportive.

1. Cardiac Management:

Patients require frequent cardiac evaluations, including echocardiograms, to monitor valve function and heart size. Depending on the severity of heart valve disease, medications such as beta-blockers, ACE inhibitors, or diuretics may be prescribed to manage symptoms and reduce cardiac workload.

In advanced cases, surgical repair or replacement of the affected heart valves may be necessary. This requires careful consideration due to the increased surgical risks associated with connective tissue fragility.

2. Systemic Management:

To maintain joint function and muscle strength while minimising injury risk. Proper wound care and skin protection strategies to manage skin fragility. Medications and therapies to manage chronic pain associated with joint hypermobility and other musculoskeletal issues.

3. Lifestyle Modifications:

Avoid high-impact activities that could increase the risk of joint dislocations or cardiovascular stress. A balanced diet supports overall health and potentially mitigates cardiovascular risk factors.

The Bottom Line!

Therefore, Cardiac-Valvular Ehlers-Danlos Syndrome is a rare but severe subtype of EDS, characterised by significant cardiac and systemic manifestations due to defective type I collagen. Early diagnosis, regular monitoring, and a multidisciplinary management approach are crucial for improving patient outcomes. Ongoing research holds promise for better understanding the disease and developing effective therapies, offering hope for improved quality of life for individuals affected by cvEDS. You can visit the German Heart Centre if you want to know more about it. Through continued advancements in genetic research, clinical care, and patient support, the future looks brighter for those living with this challenging condition.

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