TRPM4 non-selective cation channel variants in long QT syndrome.

Background: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes.

Methods: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4).

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification.

Extracoronary echocardiographic findings as predictors of coronary artery lesions in the initial phase of Kawasaki disease.

Objective: To describe the significance of pericardial effusion (PE), mitral regurgitation (MR) and impaired systolic function in predicting coronary artery lesions (CAL) at diagnosis and follow-up in Kawasaki disease (KD).

Design: Echocardiographic records on admission, at 1-3 weeks of illness, and at 6-8 weeks of illness were retrospectively retrieved in children with acute KD treated by intravenous immunoglobulins.

Setting, Patients: The study included 194 consecutive children (113 male; median age 2.

Predicting fluid responsiveness in mechanically ventilated children under general anaesthesia using dynamic parameters and transthoracic echocardiography.

Background: Dynamic variables are accurate predictors of fluid responsiveness in adults undergoing mechanical ventilation. They can be determined using respiratory variation in aortic flow peak velocity (▵Vpeak), arterial pulse pressure [▵PP and pulse pressure variation (PPV)], or plethysmographic waveform amplitude [▵POP and pleth variability index (PVI)]. These indices have not been validated in children.

Impact of prenatal diagnosis of transposition of the great arteries on obstetric and early postnatal management.

Objectives: A growing percentage of cases of transposition of the great arteries (TGA) are being diagnosed prenatally. A decrease in the percentage of spontaneous deliveries has been reported, but the rate of cesarean section (c-section) in this population has never been studied. Our goal was to determine whether prenatal diagnosis affects delivery and immediate neonatal management of TGA neonates.