[Cardiovascular manifestations of systemic elastorrhexis]

Area of Science:

• Genetics and rare diseases
• Cardiovascular pathology
• Connective tissue disorders

Context:

• Systemic elastorrhexis (Grönblad-Strandberg-Touraine syndrome) is a rare inherited disorder causing generalized elastic tissue dysplasia.
• Key affected tissues include skin, eyes, and arteries, leading to diverse clinical manifestations.
• Cardiovascular complications are common, including early-onset coronary artery disease in about 20% of patients.

Purpose:

• To review the literature on systemic elastorrhexis and its cardiovascular implications.
• To highlight the association between this rare condition and early-onset severe coronary artery disease.
• To emphasize the importance of considering elastorrhexis in patients with arteriopathy and no vascular risk factors.

Summary:

• Systemic elastorrhexis is an inherited condition with significant cardiovascular manifestations, notably early-onset coronary artery disease.
• The review stresses the need to investigate elastorrhexis in cases of premature severe coronary or arterial disease, particularly when cardiovascular risk factors are absent.
• Genetic linkage to chromosome 16p13.1 suggests potential for future diagnostic advancements, possibly avoiding invasive biopsies.

Impact:

• Enhances understanding of rare inherited connective tissue disorders and their cardiovascular sequelae.
• Promotes earlier diagnosis of systemic elastorrhexis, enabling timely intervention for cardiovascular complications.
• Guides clinicians in suspecting elastorrhexis in atypical presentations of coronary artery disease, improving patient outcomes.