Sequential dilation strategy in stent therapy of the aortic coarctation: A single centre experience.

Background: In our study, we sought to analyse the mid-term results after interventional aortic coarctation (CoA) stenting with sequential dilation of the stent.

Methods: The data of all 218 patients, who are above the age of 6 years and underwent CoA-stent implantation in our hospital, were retrospectively analysed on the rate of re-interventions, complications and arterial hypertension at a follow-up time of 31 months. To avoid any aortic complications, stents were deployed primarily not in full size and a second cardiac catheterisation for further dilatation was scheduled within 6-12 months after the stent implantation.

Quality of life after surgical treatment of coarctation in long-term follow-up (CoAFU): Predictive value of clinical variables.

Background: We sought to analyze the quality of life and the predictive value of clinical variables from previous follow-up study in patients late after surgical treatment of aortic coarctation on the quality of life.

Methods: All patients, who have participated in the prospective cross-sectional COALA Study in 2000 with a structural clinical investigation including blood pressure measurement and symptom-limited exercise test were contacted for the health-related quality of life questionnaire SF-36 from January 2013 through December 2014.

Results: From 273 eligible patients, we received data from 135 patients, 9 of them died during the follow-up time at the median age of 46years (range 30-64years).

Noninvasive Screening for Pulmonary Hypertension by Exercise Testing in Congenital Heart Disease.

Background: Patients with congenital heart disease and native or palliated conditions are at risk to develop pulmonary hypertension (PH) in later life. Screening for PH is currently performed by regular echocardiographic follow-up, which appears to be difficult in several congenital conditions. This study evaluated the screening for PH in congenital heart disease by cardiopulmonary exercise testing (CPET).

Value of N-terminal pro brain natriuretic peptide levels in different types of Fontan circulation.

Aims: N-terminal pro brain natriuretic peptide (NT-proBNP) is an important biomarker in congestive heart failure. This has also been confirmed in congenital heart disease. However, its clinical value in patients with different types of Fontan circulation remains questionable.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of α-dystroglycan (α-DG). Abnormal glycosylation of α-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan.