Marfan Syndrome and Related Disorders: Genetic Basis, Molecular Mechanisms, and Genotype–Phenotype Correlations

Dear Colleagues,

Marfan syndrome belongs, on one side, to the group of rare heritable connective tissue disorders (HCTD) and, on the other side, to the group of syndromic and non-syndromic hereditary thoracic aortic aneurysms/dissections (s/ns-HTAAD). The clinical and genetic features that allow the diagnosis of Marfan syndrome are aneurysm/dissection of thoracic aorta at the Valsalva’s sinus; subluxation/luxation of the eye lenses; and presence of systemic features with a score ≥7. Genetic signs are represented by first-degree familiarity for Marfan syndrome and characterization of a pathogenetic mutation in the propositus or in first-degree relatives. Marfan syndrome is associated with FBN1 in more than 90% of patients. The genetic analysis through the next-generation sequencing (NGS) technique allows a differential diagnosis with isolated TAAD, aortic bicuspid valve (VAB) Loeys–Dietz, arterial tortuosity, vascular Ehlers–Danlos, ectopia lentis, Weil–Marchesani syndromes, and homocystinuria. The various clinical phenotypes among relatives of the same family suggest the presence of modifier genes, some of which have been identified. NGS technology will hopefully help in detecting other modifying genes and other genes associated to Marfan syndrome and in distinguishing diseases associated with the same gene/different alleles vs. diseases present in comorbidity.

This Special Issue will focus on the current state-of-the-art and novel research findings concerning the molecular basis and pathogenesis of Marfan syndrome and related disorders, with particular interest in news regarding genotype–phenotype correlation, the discovery and characterization of modifier genes, and the patterns of mutations/genes associated to a clinical phenotype and and the techniques applied to these studies. A review regarding the aspects of hereditary transmission, of the genes associated with several pathologies or of the single gene underlying each pathology is also welcome, as well as a review regarding the cell-molecular physiopathology of Marfan syndrome and related disorders.

This issue is not meant to include papers reporting only clinical descriptions of Marfan syndrome and related disorders.

Prof. Dr. Guglielmina Pepe
Guest Editor

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