[Cardiovascular manifestations of systemic elastorrhexis]

Systemic elastorrhexis or Grönblad-Strandberg-Touraine syndrome is a rare inherited disease characterized by a generalized elastic tissue dysplasia and polymorphic clinical features, with the main tissues affected being cutaneous, ocular and arterial.

Usual cardiovascular complications of this entity include ischemic heart disease, renovascular hypertension and atherosclerotic peripheral vascular disease. Some cases of restrictive cardiomyopathies and valvular disease have been reported. Coronary artery disease, often with early onset, is seen in approximately 20% of cases.

This review of the literature concerning a rare cause of cardiopathy underlines the need to search for underlying elastorrhexis in the clinical setting of early onset and severe coronary artery disease or arteriopathy, especially in the absence of vascular risk factors. This hereditary disease has been traced to chromosome 16p13.1 and may in the future be easily diagnosed, bypassing the need for cutaneous biopsy.