Recessive TMOD1 mutation causes childhood cardiomyopathy.

Familial cardiomyopathy in pediatric stages is a poorly understood presentation of heart disease in children that is attributed to pathogenic mutations. Through exome sequencing, we report a homozygous variant in tropomodulin 1 (TMOD1; c.565C>T, p.

Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.

Background: Renal-hepatic-pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional variation to the phenotype. Many patients reported are within larger cohorts of congenital anomalies of kidney and urinary tract (CAKUT) or liver failure, and with minimal phenotypic and clinical course data.

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort.

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy.

Aims: Sudden cardiac death (SCD) is the most common mode of death in childhood hypertrophic cardiomyopathy (HCM). The newly developed HCM Risk-Kids model provides clinicians with individualized estimates of risk. The aim of this study was to externally validate the model in a large independent, multi-centre patient cohort.

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Background: Familial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive genetic testing are left without molecular diagnosis. Recently, biallelic protein-truncating variants (PTVs) in the nebulin-related anchoring protein gene (NRAP) were identified in a few patients with sporadic DCM.

Long-term renal prognosis and risk for hypertension after myeloablative therapies in survivors of childhood high-risk neuroblastoma: A nationwide study.

Background: Patients with high-risk neuroblastoma (HR NBL) treated with myeloablative regimens are reported to be at risk for cardiovascular morbidity, and this risk may be increased by impaired renal function.

Procedure: Long-term renal function was assessed in a national cohort of 18 (age 22.4 ± 4.

The effect of sildenafil on pleural and peritoneal effusions after the TCPC operation.

Background: We evaluated whether the administration of sildenafil in children undergoing the TCPC operation shortened the interval from the operation to the removal of the pleural and peritoneal drains.

Methods: We retrospectively reviewed the data of 122 patients who had undergone the TCPC operation between 2004 and 2014. Patients were divided into two groups on the basis of their treatments.

Right ventricular systolic function in hypoplastic left heart syndrome: A comparison of manual and automated software to measure fractional area change.

Background: Quantitative echocardiographic assessment of right ventricular function is important in children with hypoplastic left heart syndrome (HLHS). The aim of this study was to examine the repeatability of different echocardiographic techniques, both manual and automated, to measure fractional area change (FAC) in patients with HLHS and to correlate these measurements with magnetic resonance imaging (MRI)-derived ejection fraction (EF).

Methods: Fifty-one children with HLHS underwent transthoracic echocardiography and cardiac MRI under the same general anesthetic as part of routine inter-stage assessment.

Neonatal Arterial Morphology Is Related to Body Size in Abnormal Human Fetal Growth.

Background: Restriction in fetal growth is associated with cardiovascular disease in adulthood. It is unclear whether abnormal intrauterine growth influences arterial morphology during the fetal or neonatal stage. The objective was to study the regional arterial morphology with respect to gestational age and abnormal fetal body size.

Radiotherapy-related arterial intima thickening and plaque formation in childhood cancer survivors detected with very-high resolution ultrasound during young adulthood.

Background: The aim of the study was to evaluate arterial morphology and function in a national cohort of long-term survivors of high-risk neuroblastoma (NBL) treated with high-dose chemotherapy and autologous hematopoietic stem cell transplantation with or without total body irradiation (TBI).

Methods And Results: Common carotid, femoral, brachial, and radial artery morphology were assessed with very-high-resolution vascular ultrasound (25-55 MHz), and carotid artery stiffness and brachial artery flow-mediated dilatation measured with conventional vascular ultrasound in 19 adult or pubertal (age 22.7 ± 4.

Feasibility and precision of transcutaneous very-high resolution ultrasound for quantification of arterial structures in human neonates - comparison with conventional high resolution vascular ultrasound imaging.

Background: Non-invasive transcutaneous very-high resolution ultrasound (VHRU, 25-55 MHz) has recently been developed to quantify superficial vascular structures in humans. The performance of the method has yet not been evaluated in vivo in neonates. The aim of the study was to compare VHRU with conventional high-resolution ultrasound (HRU, 7-12 MHz), and to assess the feasibility and precision of VHRU in this population.

Screening for congenital heart defects by transabdominal ultrasound - role of early gestational screening and importance of operator training.

The majority of congenital heart defects occur without identifiable risk factors. Detection rates are therefore highly dependent on the experience and expertise of the obstetrical screening operator. In the first trimester, the risk of congenital heart defects increases with increasing nuchal thickness (≥2.

Prenatal diagnosis improves the postnatal cardiac function in a population-based cohort of infants with hypoplastic left heart syndrome.

Background: Prenatal diagnosis of hypoplastic left heart syndrome (HLHS) enables planning of perinatal care and is known to be associated with more stable preoperative hemodynamics. The impact on postnatal myocardial function is poorly known. The aim of this study was to determine the impact of prenatal diagnosis of HLHS on postnatal myocardial function.

Do spectral bands of fetal heart rate variability associate with concomitant fetal scalp pH?

Background: Objective information on specific fetal heart rate (FHR) parameters would be advantageous when assessing fetal responses to hypoxia. Small, visually undetectable changes in FHR variability can be quantified by power spectral analysis of FHR variability.

Aims: To investigate the effect of intrapartum hypoxia and acidemia on spectral powers of FHR variability.

Fetal heart failure.

Clinical fetal heart failure occurs in conditions associated with increasing left and right atrial filling and/or central venous pressures and manifests as right heart failure with the development of pericardial and pleural effusions, ascites and peripheral and placental edema. Fetal heart failure may occur in primary myocardial disease, in presence of the extracardiac pathology impacting the loading conditions of the fetal heart and in conditions associated with secondary myocardial dysfunction including structural heart defects, bradycardia or tachycardia. This review summarizes recent literature of the understanding of the normal fetal circulation and the pathogenic mechanisms responsible for the evolution of fetal heart failure, strategies for fetal and perinatal management of fetal heart failure, and future directions that may lead to novel strategies to treat affected pregnancies and.

A preliminary report--heparin counteracts indomethacin effect on ductus arteriosus in very low birthweight infants.

Objective: We report a clinical observation showing that continuous exposure to heparin via a central venous catheter is associated with patent ductus arteriosus treatment failure with indomethacin in very low birthweight infants.

Study Selection: A clinical observational case report in infants weighting <1501 g.

Data Extraction: This study compares the rates of patent ductus arteriosus treatment failure during a) the index period from June 2, 2003, to August 22, 2003, when all very low birthweight infants with a peripherally inserted central venous catheter received continuous infusion of heparinized parenteral nutrition; b) the baseline period of 1 yr before the index period; and c) the postindex period of 1 yr after the index period.

Marked fetal acidosis and specific changes in power spectrum analysis of fetal heart rate variability recorded during the last hour of labour.

Objective: To assess whether intrapartum acidosis affects specific components of fetal heart rate variability.

Design: Prospective clinical study.

Setting: Twelve Nordic delivery units.