Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.

Use of Pulmonary Arterial Hypertension Therapies in Patients with a Fontan Circulation: Current Practice Across the United Kingdom.

Background The Fontan circulation is a successful operative strategy for abolishing cyanosis and chronic volume overload in patients with congenital heart disease with single ventricle physiology. "Fontan failure" is a major cause of poor quality of life and mortality in these patients. We assessed the number and clinical characteristics of adult patients with Fontan physiology receiving pulmonary arterial hypertension (PAH) therapies across specialist centers in the United Kingdom.

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

Background: The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in or .

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.

Purpose: The Ehlers-Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders. Vascular EDS (vEDS) is caused by pathogenic variants in COL3A1, most frequently glycine substitutions. We describe the phenotype of the largest series of vEDS patients with glutamic acid to lysine substitutions (Glu>Lys) in COL3A1, which were all previously considered to be variants of unknown significance.

Echocardiographic Screening for Pulmonary Hypertension in Congenital Heart Disease: JACC Review Topic of the Week.

Echocardiography is the mainstay in screening for pulmonary hypertension (PH). International guidelines suggest echocardiographic parameters for suspecting PH, but these may not apply to many adults with congenital heart disease (ACHD). PH is relatively common in ACHD patients and can significantly affect their exercise capacity, quality of life, and prognosis.

The management of the second stage of labour in women with cardiac: A mixed methods study.

Objective: To examine the duration of the passive and active parts of the second stage (SS) of labour in women with cardiac disease (CD) and to assess the adherence to antenatal care plans regarding timing of assisted delivery. Cardiac parameters were measured in a subset of women to investigate any differences between the passive and active SS of labour.

Study Design: Cohort study of 73 women with CD, classified into mWHO Class Groups I-IV.

Why is post-partum haemorrhage more common in women with congenital heart disease?

Objective: To identify the factors associated with an increased post-partum blood loss in women with congenital heart disease (CHD).

Methods: The study was a retrospective cohort study, which included 366 nulliparous women with CHD and a singleton pregnancy cared for in a single tertiary centre (Chelsea and Westminster Hospital) between 1994 and 2014. The women were classified into one of 12 different functional groups and univariate and multivariate regression analysis were used to identify factors associated with increased blood loss at delivery.

A cohort study of women with a Fontan circulation undergoing preconception counselling.

Objective: To describe outcomes for women with a Fontan circulation attending preconception counselling (PCC). Exploring (1) impact of counselling on decision to become pregnant; (2) pregnancy rates in those opting for pregnancy and (3) short-term and long-term outcome of those who succeeded in becoming pregnant.

Methods: Retrospective review of women aged 16-45 years with a Fontan circulation from 1994 to 2014.

Use of high intensity adjusted dose low molecular weight heparin in women with mechanical heart valves during pregnancy: a single-center experience.

The use of standard dose low molecular weight heparin (LMWH) to anticoagulate women with mechanical valves in pregnancy is associated with morbidity and mortality. We conducted a prospective audit of the use of adjusted dose high intensity LMWH in 12 pregnancies in 11 women with prosthetic heart valves. LMWH +/- low-dose aspirin was started at therapeutic-dose with monitoring of anti-Xa levels to achieve a target level of 1.