Cardiomyocyte maturation alters molecular stress response capacities and determines cell survival upon mitochondrial dysfunction.

Cardiomyocyte maturation during pre- and postnatal development requires multiple intertwined processes, including a switch in energy generation from glucose utilization in the embryonic heart towards fatty acid oxidation after birth. This is accompanied by a boost in mitochondrial mass to increase capacities for oxidative phosphorylation and ATP generation required for efficient contraction. Whether cardiomyocyte differentiation is paralleled by augmented capacities to deal with reactive oxygen species (ROS), physiological byproducts of the mitochondrial electron transport chain (ETC), is less clear.

Heart transplantation surgery in children and young adults with congenital heart disease.

Background: Pediatric cardiac transplantation remains a surgical challenge as a variety of cardiac and vessel malformation are present in patients with congenital heart disease (CHD). Despite limited availability and acceptability of donor hearts, the number of heart transplantations remains on a stable level with improved survival and quality of life.

Observation: As treatment options for CHD continue to improve and the chances of survival increase, more adult CHD patients are listed for transplantation.

Inhibition of mitochondrial respiration has fundamentally different effects on proliferation, cell survival and stress response in immature versus differentiated cardiomyocyte cell lines.

Myocardial tissue homeostasis is critically important for heart development, growth and function throughout the life course. The loss of cardiomyocytes under pathological conditions ultimately leads to cardiovascular disease due to the limited regenerative capacity of the postnatal mammalian heart. Inhibition of electron transport along the mitochondrial respiratory chain causes cellular stress characterized by ATP depletion as well as excessive generation of reactive oxygen species.

Ventricular assist devices in paediatric cardiomyopathy and congenital heart disease: An analysis of the German National Register for Congenital Heart Defects.

Background: Ventricular assist devices (VAD) are increasingly used in patients with end-stage heart failure due to acquired heart disease. Limited data exists on the use and outcome of this technology in children.

Methods: All children (<18 years of age) with VAD support included in the German National Register for Congenital Heart Defects were identified and data on demographics, underlying cardiac defect, previous surgery, associated conditions, type of procedure, complications and outcome were collected.

Against all odds-late repair of multiple shunt lesions in a patient with Down syndrome: a case report.

Background: Children with congenital heart defects (CHD) usually undergo elective surgical repair of haemodynamically relevant shunt lesions within the first year of life. Due to susceptibility for pulmonary arterial hypertension (PAH) in patients with Down syndrome, repair is usually aimed for no later than 6 months of life. However, with rising immigration from developing countries to Europe, more patients with unrepaired CHD are diagnosed at a later age.

Cardiac CT in the Preoperative Diagnostics of Neonates with Congenital Heart Disease: Radiation Dose Optimization by Omitting Test Bolus or Bolus Tracking.

Rationale And Objectives: Congenital heart diseases (CHD) belong to the leading causes of infant mortality worldwide. Prognostic improvements result from multimodal therapy strategies leading to an increased demand for noninvasive imaging. The aim of the study was to further optimize cardiac CT radiation dose by omitting the test bolus or bolus tracking scan, which can have a relevant share of radiation exposure, especially in neonates.

Valve-Sparing Aortic Root Replacement in an 8-Month-Old Infant With Loeys-Dietz Syndrome.

The clinical experience with Loeys-Dietz syndrome (LDS) reveals fateful natural history with intracerebral incidents and aortic dissections. A newborn child was referred to our hospital with significantly dilated aortic root and clinical signs of LDS phenotype later genetically confirmed as LDS type I. A therapy with antihypertensive medicines was initiated to postpone the surgery.

Extubation in the Operating Room After Fontan Procedure: Does It Make a Difference?

Early extubation appears to have beneficial effects on the Fontan circulation. The goal of this study was to assess the impact of extubation on the operating table in comparison with extubation during the first hours after Fontan operation (FO) on the early postoperative course. Between 2013 and 2016, 114 children with a single ventricle heart malformations (mean age, 3.

Long-term single-center experience of defibrillator therapy in children and adolescents.

Background: Implantable cardioverter-defibrillator (ICD) systems are established therapy for prevention of sudden cardiac death. Long-term data on ICD systems in children and adolescents is rare. The present study displays a long-term single-center follow-up of children and adolescents with ICD systems.

Single Ostium of the Right and Left Coronary Artery From the Right Pulmonary Artery.

We describe a newborn with single-ventricle malformation and anomalous origin of both coronary arteries from single ostium in the middle portion of the right pulmonary artery whose coronary anatomy was discovered during the operation and who underwent successful staged operative management. This report presents a unique anatomic association, proposes a means of management, and highlights the importance of intraoperative analysis.

Stenting of Native Right Ventricular Outflow Tract Obstructions in Symptomatic Infants.

Objective: To assess feasibility, safety and effectiveness of right ventricular outflow tract (RVOT) stenting in symptomatic young infants.

Methods: Multicentre evaluation of 35 patients intended to undergo RVOT stenting in 11 pediatric cardiac centres from 2009 to August 2011.

Results: Median age and weight at the time of first stent implantation were 8 weeks and 3.

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis was suggested in another three individuals. We present an update of one case and the detailed clinical phenotype of six other cases with Singleton-Merten syndrome.

Do the age of patients with tetralogy of fallot at the time of surgery and the applied surgical technique influence the reoperation rate? a single-center experience.

Background And Purpose: Primary repair of tetralogy of Fallot (TOF) has been favored in many centers for years now and results and advantages of this management seem to verify this procedure. The authors wanted to know, if the age at the time of surgery and the surgical techniques had an influence on the long-term results.

Patients And Methods: Between 1992 and 2003, 124 patients underwent complete repair of TOF at the University Hospital Münster, Germany.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by mutations in BRAF, MEK1, MEK2, or KRAS. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw (Noonan-like/MGCL syndrome (NL/MGCLS)).

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.

The following study describes the discovery of a new inherited metabolic disorder, dolichol kinase (DK1) deficiency. DK1 is responsible for the final step of the de novo biosynthesis of dolichol phosphate. Dolichol phosphate is involved in several glycosylation reactions, such as N-glycosylation, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, and C- and O-mannosylation.

Lethal subarachnoid bleeding under immunosuppressive therapy due to mycotic arteritis.

A subarachnoid haemorrhage (SAH) occurred 67 days after cardiac transplantation in a 10-year-old girl with consecutive immunocompromising therapy. Neither digital subtraction angiography (DSA) nor computed tomographic angiography showed signs of intracranial vascular malformations. One month before the lethal SAH occurred, she had developed arterial hypertension and attacks of severe headache with cerebrospinal fluid (CSF) pleocytosis while CT scans showed an infarct of the left thalamus.

Lethal subarachnoid bleeding under immunosuppressive therapy due to mycotic arteritis.

A subarachnoid haemorrhage (SAH) occurred 67 days after cardiac transplantation in a 10-year-old girl with consecutive immunocompromising therapy. Neither digital subtraction angiography (DSA) nor computed tomographic angiography showed signs of intracranial vascular malformations. One month before the lethal SAH occurred, she had developed arterial hypertension and attacks of severe headache with cerebrospinal fluid (CSF) pleocytosis while CT scans showed an infarct of the left thalamus.

Cardiomyopathy in congenital disorders of glycosylation.

Congenital disorders of glycosylation are a group of inherited metabolic multisystem disorders characterized by defects in the glycosylation of proteins and lipids. In most cases, neuromuscular disease is present. The purpose of this study was to characterize the cardiological aspects in this disorder.

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia.

Unlabelled: Severely affected children with congenital disorder of glycosylation type Ia (CDG-Ia; MIM 212065) may develop hypertrophic cardiomyopathy. In this report we describe the near-death of a 10-month-old girl with CDG-Ia due to acute left-ventricular outlet obstruction caused by hypertrophic cardiomyopathy and acute dehydration. The girl had multi-organ failure and signs of severe myocardial damage mimicking myocardial infarction.