A Novel Splice-Site Mutation in the Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.

The gene encodes elastin, a fundamental protein of the extracellular matrix that confers elasticity to different tissues including blood vessels. The formation of elastin fibers is a complex process involving monomer coacervation and subsequent crosslinking. Mutations in exons 1-29 of the gene have been linked to supravalvular aortic stenosis (SVAS) whereas mutations in exons 30-33 are associated with autosomal dominant cutis laxa (ADCL).

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.

Identification of clinically relevant phenotypes in patients with Ebstein anomaly.

Background: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes.

Hypothesis: Phenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors.

Methods: A comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out.