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).

Impact of pulmonary hypertension and congenital heart disease with hemodynamic repercussion on the severity of acute respiratory infections in children under 5 years of age at a pediatric referral center in Colombia, South America.

Background: Acute respiratory infection is one of the main causes of morbidity in children. Some studies have suggested that pulmonary hypertension and congenital heart disease with haemodynamic repercussion increase the severity of respiratory infections, but there are few publications in developing countries.

Methods: This was a prospective cohort study evaluating the impact of pulmonary hypertension and congenital heart disease (CHD) with haemodynamic repercussion as predictors of severity in children under 5 years of age hospitalised for acute respiratory infection.

Paediatric cardiomyopathies: echocardiographic diagnosis, clinical profile, and demographic characteristics: the experience of a tertiary referral centre for Latin American paediatric cardiology.

Background: Although multiple studies have been conducted in the adult population, there is a vast knowledge gap regarding the epidemiologic characteristics of cardiomyopathies in the paediatric population. This issue is even more crucial when the precarious situation of medical research in Latin America is considered. Given the potential impact that these disorders could have on Latin American health systems, a comprehensive epidemiologic study regarding the clinical profile and sociodemographic characteristics of these patients will influence the way we approach paediatric cardiomyopathies.

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.