Genetic testing for Marfan-like disorders

Abstract

Marfan-like disorders are inherited conditions with features resembling Marfan syndrome but without a pathogenic variant in FBN1, and/or without a clinical diagnosis of Marfan syndrome according to the Revised Ghent criteria, and/or with a pathogenic variant in a different disease gene. Marfan-like disorders are clinically and genetically heterogeneous and have variable prognosis. They may have autosomal dominant or autosomal recessive patterns of inheritance. The prevalence of most Mar-fan-like disorders is unknown. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.

Keywords

• marfan-like syndromes
• loeys-dietz syndromes
• familial thoracic aortic aneurism
• cutis laxa syndromes
• bicuspid aortic valve disease
• arterial tortuosity syndrome
• ebtna utility gene test