rare variants in the known LDS genes impinge on SCAD risk, implying a pathophysiological role for dysregulated transforming growth factor β signaling and, hence, opening new avenues for SCAD research and future prevention and therapy. Although validation in other SCAD cohorts is warranted, our results advocate for routine molecular diagnostic screening of LDS genes in patients with SCAD, even in those without connective tissue disease manifestations. We showed that pathogenic FLNA and LOX variants are occasionally found in SCAD±FMD cases and revealed the presence of pathogenic COL3A1 variants in both patients with SCAD±FMD and patients with FMD only.

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

Minuz, Pietro;Mansueto, Giancarlo;De Marchi, Sergio;Marcon, Denise;
2020

Abstract

rare variants in the known LDS genes impinge on SCAD risk, implying a pathophysiological role for dysregulated transforming growth factor β signaling and, hence, opening new avenues for SCAD research and future prevention and therapy. Although validation in other SCAD cohorts is warranted, our results advocate for routine molecular diagnostic screening of LDS genes in patients with SCAD, even in those without connective tissue disease manifestations. We showed that pathogenic FLNA and LOX variants are occasionally found in SCAD±FMD cases and revealed the presence of pathogenic COL3A1 variants in both patients with SCAD±FMD and patients with FMD only.
Loeys-Dietz syndrome
coronary artery disease
fibromuscular dysplasia
genetics
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1024814
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