Herniation of mitral leaflets in the Ehlers-Danlos syndrome

A 47 year old patient with the Ehlers-Danlos syndrome (hypermobility of the joints, hyperextensibility of the skin and atrophic cutaneous scars) was evaluated because of a mitral regurgitant murmur and paroxysmal atrial tachycardia. Angiocardiography and echocardiography demonstrated marked systolic herniation of the posterior leaflets of the mitral valve. An echocardiogram from the patient's daughter, who also had paroxysmal atrial tachycardia, revealed the same abnormality. Although a "floppy" valve is common in Marfan's syndrome, this report emphasizes that it may also occur in patients with other heritable disorders of connective tissue.