Emotional and psychosocial functioning in youngsters with a congenital heart disease (CHD) in comparison to healthy controls.

Objective: Due to their medical vulnerability, youngsters with congenital heart disease (CHD) may experience more overwhelming emotions than healthy peers. This multi-informant-based study aims to examine differences between these youngsters and their peers in psychosocial functioning, attachment and emotion regulation.

Study Design: 217 youngsters (8-18 years) with CHD (53.

Loss-of-function GHSR variants are associated with short stature and low IGF-I.

Context: The growth hormone (GH) secretagogue receptor, encoded by GHSR, is expressed on somatotrophs of the pituitary gland. Stimulation with its ligand ghrelin, as well as its constitutive activity, enhances GH secretion. Studies in knock-out mice suggest that heterozygous loss-of-function of GHSR is associated with decreased GH response to fasting, but patient observations in small case reports have been equivocal.

Prevalence and management of hypertension in Turner syndrome: data from the International Turner Syndrome (I-TS) registry.

Introduction: Cardiovascular disease is the most common cause of death in Turner syndrome (TS) for which arterial hypertension has a direct influence and is a key modifiable risk factor.

Objective: To investigate the prevalence and patterns of hypertension diagnosis and management in adult patients with TS who are registered in a large international multicentre database (TS-HTN study).

Methods: Retrospective multicentre observational study of patients aged ≥18 years included in the I-TS (International-TS) registry (2020-2022), using registry and participating centre-collected data.

Management of aortic disease in children with FBN1-related Marfan syndrome.

Marfan syndrome (MFS) is a hereditary connective tissue disorder with an estimated prevalence of 1:5000-1:10 000 individuals. It is a pleiotropic disease characterized by specific ocular, cardiovascular, and skeletal features. The most common cardiovascular complication is aortic root dilatation which untreated can lead to life-threatening aortic root dissection, mainly occurring in adult patients.