Cardiac-valvular Ehlers-Danlos syndrome (cvEDS), a rare type of the disease, is characterized by problems in the heart valves, which accompany the more commonly observed disease symptoms of stretchy skin or overly flexible joints.
What causes cvEDS?
Ehlers-Danlos syndrome (EDS) affects the connective tissue that supports the skin, joints, blood vessels, and organs, including the heart. The connective tissue is primarily made up of collagen, a protein that provides structure and strength to these tissues. More than 15 types of collagen exist, and type 1 collagen is one of the most abundant forms in the body. Type 1 collagen consists of two so-called pro-α1(1), and one pro-α2(1) chains made up of amino acids (the building blocks of proteins).
cvEDS is caused by a mutation in the COL1A2 gene, which carries the instruction to make pro-α2(1). Mutations in this gene lead to the production of defective pro-α2(I), which interferes with the correct assembly, structure, and function of type 1 collagen, and results in weakened connective tissues and the symptoms associated with cvEDS.
How is cvEDS inherited?
The COL1A2 gene is located on chromosome 7, an autosome or a chromosome that does not determine gender. Two copies of every gene are located on autosomes, one copy from each parent.
cvEDS-causing mutations are inherited in an autosomal recessive manner, which means that both copies of the COL1A2 gene must be mutated for the disease to develop. This can happen when both parents have a genetic defect in the COL1A2 gene and are “carriers” of the disease. In such cases, their children have a 25% chance of developing cvEDS.
What are the symptoms of cvEDS?
The symptoms of different types of EDS overlap. Some cvEDS patients experience:
- progressive weakening of heart valves.
- high blood pressure or arterial disease.
- thin skin that bruises easily.
- increased movement of the joints which causes recurrent dislocations or fractures, difficulty walking, and poor grip.
- scoliosis or abnormal sideways curvature of the spine.
How is cvEDS diagnosed?
A healthcare team may suspect cvEDS based on a detailed review of the patient’s symptoms, physical exam, family medical history, and clinical findings.
An echocardiogram (heart ultrasound) can be used to detect heart abnormalities. Due to the overlap of symptoms with other EDS types, a skin biopsy and genetic testing must be used to confirm a diagnosis of cvEDS.
How is cvEDS treated?
Current treatments for cvEDS are similar to those for other types of EDS, and are centered around symptom management.
Physiotherapy can help patients gain muscle strength, improve their gait, and correct their posture. Exercises should only be performed in consultation with a trained physical and occupational therapist.
In severe cases, surgery may help correct scoliosis or fix joint problems. Cardiac surgery may also be an option to correct the heart valve defect in cvEDS patients.
Last updated: Oct. 23, 2019
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