A Common Polymorphism in the MTHFD1 Gene Is a Modulator of Risk of Congenital Heart Disease.

Several environmental and genetic factors may influence the risk of congenital heart defects (CHDs), which can have a substantial impact on pediatric morbidity and mortality. We investigated the association of polymorphisms in the genes of the folate and methionine pathways with CHDs using different strategies: a case-control, mother-child pair design, and a family-based association study. The polymorphism rs2236225 in the MTHFD1 was confirmed as an important modulator of CHD risk in both, whereas polymorphisms in MTRR, FPGS, and SLC19A1 were identified as risk factors in only one of the models. A strong synergistic effect on the development of CHDs was detected for MTHFD1 polymorphism and a lack of maternal folate supplementation during early pregnancy. A common polymorphism in the MTHFD1 is a genetic risk factor for the development of CHD, especially in the absence of folate supplementation in early pregnancy.

Decreased tissue oxygenation in newborns with congenital heart defects: a case-control study.

AIM: To compare regional tissue oxygenation (rSO2) in the brain, intestine, and kidney between newborns with and without congenital heart defects (CHD). METHODS: This observational case-control study was conducted at the Neonatal Department of Children's Hospital Ljubljana between December 2012 and April 2014. It included 35 newborns with CHD and 30 healthy age- and sex-matched controls. CHD were assessed echocardiographically and divided into acyanotic and cyanotic group. RSO2 in the brain, intestine, and kidney was measured using near-infrared spectroscopy (NIRS). Simultaneously, heart rate (HR), breathing frequency (BF), mean arterial blood pressure (MAP), and arterial oxygen saturation (Sao2) were recorded. RESULTS: Newborns with CHD had significantly lower rSO2 in the left brain hemisphere (67±11% vs 76±8%, P=0.004), right brain hemisphere (68±11% vs 77±8%, P<0.001), and the kidney (68±13% vs 77±10%, P=0.015). RSO2 in the intestine did not significantly differ between the groups. HR, MAP, and Sao2 also did not differ between the groups, whereas BF was significantly higher in the CHD group (57±12 vs 39±10 breaths/min, P<0.001). Between cyanotic and acyanotic group, we found no significant differences in rSO2 of any tissue. CONCLUSIONS: Monitoring tissue oxygenation by NIRS could enable a timely detection of hemodynamically important CHD.

Fluoroless catheter ablation of various right and left sided supra-ventricular tachycardias in children and adolescents.

Electrophysiology study (EPS) and catheter ablation (CA) in children and adolescents carries a potentially harmful effect of radiation exposure when performed with the use of fluoroscopy. Our aim was to evaluate the feasibility, safety and effectiveness of fluoroless EPS and CA of various supra-ventricular tachycardias (SVTs) with the use of the 3D mapping system and intracardiac echocardiography (ICE). Forty-three consecutive children and adolescents (age 13 ± 3 years) underwent fluoroless EPS and CA for various supra-ventricular tachycardias. A three-dimensional (3D) mapping system NavX™ was used for guidance of diagnostic and ablation catheters in the heart. ICE was used as a fundamental imaging tool for transseptal punctures. Acute procedural success rate was 100 %. There were no procedure related complications and short-term follow up (10 ± 3 months) revealed 93 % arrhythmia free survival rate. Fluoroless CA of various SVTs in the paediatric population is feasible, safe and can be performed successfully with 3D mapping system and ICE.

Cardiac damage after treatment of childhood cancer: a long-term follow-up.

BACKGROUND: With improved childhood cancer cure rate, long term sequelae are becoming an important factor of quality of life. Signs of cardiovascular disease are frequently found in long term survivors of cancer. Cardiac damage may be related to irradiation and chemotherapy.We have evaluated simultaneous influence of a series of independent variables on the late cardiac damage in childhood cancer survivors in Slovenia and identified groups at the highest risk. METHODS: 211 long-term survivors of different childhood cancers, at least five years after treatment were included in the study. The evaluation included history, physical examination, electrocardiograpy, exercise testing and echocardiograpy. For analysis of risk factors, beside univariate analysis, multivariate classification tree analysis statistical method was used. RESULTS AND CONCLUSION: Patients treated latest, from 1989-98 are at highest risk for any injury to the heart (73%). Among those treated earlier are at the highest risk those with Hodgkin's disease treated with irradiation above 30 Gy and those treated for sarcoma. Among specific forms of injury, patients treated with radiation to the heart area are at highest risk of injury to the valves. Patients treated with large doses of anthracyclines or concomitantly with anthracyclines and alkylating agents are at highest risk of systolic function defect and enlarged heart chambers. Those treated with anthracyclines are at highest risk of diastolic function defect. The time period of the patient's treatment is emerged as an important risk factor for injury of the heart.

Cardiac resynchronization therapy for the failing Fontan patient.

Myocardial dysfunction is the leading cause of death in single-ventricle patients. Heart transplantation has traditionally been reserved for Fontan patients with end-stage myocardial dysfunction. Cardiac resynchronization therapy with multisite pacing was found to improve the myocardial performance in Fontan patients in acute postoperative settings; however, its role is unclear in chronic Fontan patients with progressive myocardial dysfunction. We present a case in which cardiac resynchronization therapy improved both hemodynamics and clinical condition in a Fontan patient with advanced myocardial dysfunction.

First-degree heart block in the fetus of an anti-SSA/Ro-positive mother: reversal after a short course of dexamethasone treatment.

Isolated congenital heart block is almost invariably associated with the presence of antibodies to SSA/Ro and SSB/La antigens in the maternal circulation. Once established, third-degree congenital heart block is permanent. However, a lesser degree of autoantibody-associated heart block in a fetus can be reversed if it is recognized and treated early enough with fluorinated glucocorticosteroids. The only method available clinically for the recognition of first-degree heart block in a fetus is measurement of the mechanical PR interval by pulsed Doppler echocardiography. This is the first report of a fetus in whom a diagnosis of first-degree heart block and the consequent decision to intervene were based solely on this technique. In addition, the first-degree heart block resolved completely after only 2 weeks of dexamethasone treatment, and the heart rhythm remained stable throughout the remainder of the pregnancy despite early discontinuation of therapy due to oligohydramnios.