Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling.

Cowden syndrome (CS) represents a rare autosomal dominant disorder caused by mutations in the gene located on chromosome 10q23.3. This entity belongs to the PTEN hamartoma tumor syndrome (PHTS) spectrum.

The Association Between Childhood Experience of Living with a Heavy Drinker and Self-Rated Mental Health in the Adult General Population.

Background And Objectives: Considering the link between childhood experiences with adult health and well-being, this study examined how living with a heavy drinker (HD) during childhood affected self-rated mental health (SRMH) in adulthood, while identifying risk and protective factors and assessing the prevalence within a regional context.

Materials And Methods: Data (N = 11,113) were obtained from a cross-sectional DEEP SEAS survey (2021) of the general population, aged 18-64 years, in six countries (Croatia, Bosnia and Herzegovina, Slovenia, Austria, Hungary, and Italy).

Results: A statistically significant difference in SRMH was found, related to the childhood experience of living with an HD (MD = -0.

Percutaneous Embolization of No Ligated Vertical Veins After Total Anomalous Pulmonary Vein Return Operation and Risk Factors for Its Persistence.

Background: The vertical vein (VV) ligation during the total anomalous pulmonary venous return (TAPVR) correction is still controversial. Our study aimed to define the potential risk factors for VV persistence and their percutaneous occlusion.

Methods: The retrospective cohort study included 40 patients (26 males) with TAPVR treated at the tertiary referral center from 2005 to 2024.

Differences between echocardiography and cardiac nuclear magnetic resonance parameters in children with bicuspid aortic valve-related aortopathy.

Objectives: The bicuspid aortic valve (BAV) is the most common congenital heart defect. Patients with BAV frequently develop aortopathy, which depends on the dysfunction and morphotype of the BAV.

Aim: The aim of our study was to compare the echocardiography and cardiac magnetic resonance (CMR) findings in BAV patients, and to define the risks of BAV dysfunction and aortopathy.

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.

Noonan syndrome (NS) is a congenital genetic disorder with a prevalence of 1 in 1000 to 2500 live births, and is characterized by distinctive facial features, short stature, chest deformities, and congenital heart disease. This study aims to evaluate the prevalence of specific genetic mutations and their impact on cardiovascular and other outcomes in NS. We conducted a retrospective clinical study of 25 pediatric patients diagnosed with NS at two institutions: The Mother and Child Health Care Institute of Serbia and the Clinic for Children Diseases, University Clinical Center of the Republic of Srpska.