Ehlers-Danlos syndrome, cardiac valvular type

Ehlers-Danlos syndrome, cardiac valvular type is a genetic condition that affects the connective tissues in the body. This form of the syndrome is marked by soft, stretchy skin and joints that move more than usual. People with this condition often experience easy bruising and scar formation that can appear thin and stretched together. A particular feature of this condition is the impact on heart valves, especially the mitral and aortic valves. The valve issues can lead to problems with how the heart pumps blood. The condition is part of the broader group of Ehlers-Danlos syndromes, which affect the structure and strength of collagen in the body.

People with this condition may experience soft and hyperextensible skin, easy bruisability, atrophic scar formation, and joint hypermobility. In addition, heart valve problems such as issues with the mitral or aortic valves are common signs.

This condition is linked to changes in the COL1A2 gene. The genetic alteration affects how collagen is formed in the body, which in turn impacts the skin, joints, and heart valves. The condition is recognized as part of the spectrum of Ehlers-Danlos syndromes, and the gene mutation is a key factor in developing the symptoms observed.

Information about treatment is currently limited for this condition.

Information about the prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.