Atrioventricular Defect Research Articles

Late onset complete atrioventricular block following surgical closure of atrioventricular defect: case report

Late onset complete atrioventricular block following surgical closure of atrioventricular defect: case report

Fully Automated Valve Segmentation for Blood Flow Assessment From 4D Flow MRI Including Automated Cardiac Valve Tracking and Transvalvular Velocity Mapping.

Automated 4D flow MRI valvular flow quantification without time-consuming manual segmentation might improve workflow. Compare automated valve segmentation (AS) to manual (MS), and manually corrected automated segmentation (AMS), in corrected atrioventricular septum defect (c-AVSD) patients and healthy volunteers, for assessing net forward volume (NFV) and regurgitation fraction (RF). Retrospective. 27 c-AVSD patients (median, 23 years; interquartile range, 16-31 years) and 24 healthy volunteers (25 years; 12.5-36.5 years). Whole-heart 4D flow MRI and cine steady-state free precession at 3T. After automatic valve tracking, valve annuli were segmented on time-resolved reformatted trans-valvular velocity images by AS, MS, and AMS. NFV was calculated for all valves, and RF for right and left atrioventricular valves (RAVV and LAVV). NFV variation (standard deviation divided by mean NFV) and NFV differences (NFV difference of a valve vs. mean NFV of other valves) expressed internal NFV consistency. Comparisons between methods were assessed by Wilcoxon signed-rank tests, and intra/interobserver variability by intraclass correlation coefficients (ICCs). P < 0.05 was considered statistically significant, with multiple testing correction. AMS mean analysis time was significantly shorter compared with MS (5.3 ± 1.6 minutes vs. 9.1 ± 2.5 minutes). MS NFV variation (6.0%) was significantly smaller compared with AMS (6.3%), and AS (8.2%). Median NFV difference of RAVV, LAVV, PV, and AoV between segmentation methods ranged from -0.7-1.0 mL, -0.5-2.8 mL, -1.1-3.6 mL, and - 3.1--2.1 mL, respectively. Median RAVV and LAVV RF, between 7.1%-7.5% and 3.8%-4.3%, respectively, were not significantly different between methods. Intraobserver/interobserver agreement for AMS and MS was strong-to-excellent for NFV and RF (ICC ≥0.88). MS demonstrates strongest internal consistency, followed closely by AMS, and AS. Automated segmentation, with or without manual correction, can be considered for 4D flow MRI valvular flow quantification. 3 TECHNICAL EFFICACY: Stage 3.

Low Mass Low Beat: The Effect of Bariatric Surgery on Cardiac Rhythm

Obesity is a global health problem, associated with significant morbidity and mortality. It is a multifactorial disorder associated with serious complications including diabetes mellitus, dyslipidemia and Cardiovascular Disease (CVD). Its prevalence has been increasing over the last few decades and has become a modern-day epidemic. The management and the treatment of obesity include lifestyle modifications and increased physical activity. Patients with a BMI of greater than 35 kg/m2 with other comorbidities such as type two diabetes are considered eligible for bariatric surgery. There is a plethora of evidence about the effect of bariatric surgery on medical outcomes including reversal of metabolic disease and reduction of negative cardiovascular outcome. Based on the few reported cases in the medical literature, increased cholinergic tone manifesting as bradycardia and delayed chronotropic response on stress test have been reported in post-bariatric surgery patients with significant weight loss. We reported three cases of patients that underwent bariatric surgery and present with brady-arrythmias. While considering other complications of bariatric surgery, it is important to consider cardiac related sequalae such as bradyarrhythmias like sinus bradycardia, atrioventricular block, sick sinus syndrome due to delayed chronotropic response and irreversible atrioventricular defect could be helpful in clinical decision making. We recommend that an EKG and echocardiogram should be a performed as part as of a routine analysis in patients who had a bariatric surgery.

Correlation of Cardiopulmonary Bypasses and Cardiac Troponin I in Predicting Post-Op Arrhythmia

Aim: The correlation of cardiopulmonary bypasses (CPB) and cardiac troponin I (cTnI) in predicting arrhythmia remain unclear. Aim of this study to investigate the correlation of cardiopulmonary bypasses duration and cardiac troponin I with the type of arrhythmias. Methods: This is a retrospective observational study took place in our hospital between May 2020-December 2021.The study included a total of thirty-three patients who underwent open-heart surgery. Patients between the age of 2 months and 14 years of both genders with the diagnosis of ventricular septal defect (VSD), atrioventricular defect (AVSD) and tetralogy of Fallot (TOF) were included in this study. Patients with preoperative a history of major intraoperative events and high-level of cardiac troponin I were excluded from the study. The accuracy was calculated using sensitivity and specificity. The area under the ROC curve (95% CI) and p-value were also calculated. Results: Out of thirty-three patients undergoing open-heart surgery, 58.1% were male and were one year of age or more (71%). A statistically significant correlation among arrhythmia, cardiac troponin I and cardiopulmonary bypasses was observed (p &lt; 0.05). Cardiac troponin I predicted high-level sensitivity for arrhythmias, hospital stay, and intensive care unit stay, while low specificity was reported for cardiac troponin I compared to cardiopulmonary bypasses. Conclusion: The higher level of cardiac troponin I was correlated with the underlying burden of arrhythmias. A novel high- sensitivity cardiac troponin I assay can protectively recognize patients at low risk of arrhythmias. Keywords: Arrhythmia, Cardiac troponin I, Cardiopulmonary bypass, Sensitivity, Specificity

Infekcyjne zapalenie wsierdzia u chłopca z zespołem Downa po operacji kardiochirurgicznej w okresie niemowlęcym i usunięciu 13 zębów w piątym roku życia

A 14-year-old boy with Down’s syndrome and an atrioventricular septum defect underwent cardiosurgical treatment at 3 months of age. The postoperative course included pericardiocentesis due to fluid accumulation, anemia, lack of body weight increase, and kidney failure. In the years that followed, the boy’s condition was stable, although he often suffered from infections. The reconstructed mitral valve showed good function, the leaflets were not thickened. At 5 years of age, the patient underwent extraction of 13 teeth consecutively, due to extensive inflammatory changes, without antibiotic cover. The child’s health deteriorated after the procedure. Inflammation indicators were positive and symptoms of sepsis appeared. Physical examination revealed splenomegaly, and Streptococcus mitis and Staphylococcus hominis bacteria were cultured in the blood culture. Transthoracic echocardiography and transesophageal echocardiography showed a hyperechogenic structure of 10 × 4 mm on the mitral valve, causing a narrowing of the inflow to the left ventricle and an exacerbation of grade I to III valve regurgitation as well as features of pulmonary hypertension. Vegetation in the course of infectious endocarditis was suspected and intensive antibiotic therapy was initiated in accordance with the antibiogram. After obtaining sterile cultures, the boy underwent diagnostic cardiac catheterization, which showed postcapillary type reversible pulmonary hypertension. The child was qualified for cardiac surgery during which the vegetation was removed and the Medtronic Hancock 23 mm biological valve was implanted in the mitral field. The boy’s condition has systematically improved and he is currently under outpatient control. After several years of follow-up, the mitral valve shows slight regurgitation. Also, a mild obstruction of the left ventricle outflow tract is observed, not requiring any intervention at the moment.

Repair of atrioventricular disruption after mitral valve replacement utilizing commando procedure principles.

Atrioventricular rupture is a life-threatening complication of mitral valve replacement. We present how incising the intervalvular fibrosa critically improves exposure. The aortic valve sacrifice allows access to a large atrioventricular dissociation defect and reliable repair of the anterolateral aspect of mitral valve annulus.

Hypoplastic right heart syndrome

Congenital heart diseases (CHDs) are of two types-acyanotic and cyanotic. Acyanotic heart diseases include atrial septal defect ASD, ventricular septal defect VSD, patent ductus arteriosus PDA, coarctation of aorta and atrioventricular cushion defects. Cyanotic heart disease includes Fallot’s tetralogy, transposition of the great vessels, Total anomalous pulmonary venous return, Tricuspid atresia and single ventricle or hypoplastic left heart or hypoplastic right heart syndrome (HRHS). Hypoplastic right heart is a rarer condition than the hypoplastic left heart. Our patient had a cyanotic heart disease; presented to us with hypoplastic right heart, a very rare association consisting of pulmonary atresia combined with a hypoplastic right ventricle and well-developed pulmonary arteries. Early clinical diagnosis and surgical intervention saved this child.

A surgical approach of an unusual variant of complete atrioventricular defect; A case report

BackgroundComplete atrioventricular canal is a congenital heart defect that is characterized by an atrial septal defect, ventricular septal defect, and a common atrioventricular valve. Standard surgical techniques for repairing complete atrioventricular canal defect mainly includes repairing the defect with a single patch, a double patch, or with the modified single patch technique.Case presentationThis paper presents a novel surgical repair technique of an unusual anatomical presentation for a complete atrioventricular canal defect in a patient with Down syndrome.ConclusionsUnusual anatomical variant for congenital heart defects occurs frequently, which gives surgeons real opportunities to innovate surgical approaches. This patient was an example of an unusual anatomical presentation for complete atrioventricular canal, and the surgical technique used for this patient was novel. Follow up for these patients is mandatory for long term results.

High-definition mapping of the atria using a novel multipolar mapping catheter in patients with complex adult congenital heart disease

BackgroundThe Advisor™ HD Grid Mapping Catheter (Abbott Technologies, Minneapolis, MN) has been recently introduced. Although the clinical use of HD Grid mapping catheter is well described in adults with no congenital heart disease, there is limited data on the feasibility of using the HD Grid multipolar catheter to create voltage and activation mapping in adults with congenital heart disease. The purpose of this study was to evaluate the safety and technical feasibility of using the Advisor™ HD Grid mapping catheter during the catheter ablation of atrial arrhythmias in adults with congenital heart disease. We included 6 consecutive adults with congenital heart disease suffering from atrial arrhythmias in our study. The HD Grid mapping catheter was used to perform voltage and activation mapping.ResultsSix patients with congenital heart diseases (d-TGA n = 1, Tricuspid atresia n = 1, atrioventricular defect repair n = 1, secundum atrial septal defect n = 1, double-inlet single-ventricle n = 1, Tetralogy of Fallot = 1); majority (84%) male, with the mean age was 35 ± 10 years included in our series. The mean ablation duration and the fluoroscopy time were 789 ± 433 and 502 ± 355 s, respectively. The mean radiation dose was 7.52 ± 9 milliGy/cm2. The HD Grid mapping catheter was used successfully for entire arrhythmia mapping in 5 out of 6 cases. During one procedure, HD Grid mapping catheter could not be used for the entire mapping due to suboptimal reach through baffle puncture. The acute success rate of ablation was 100% with no immediate complications.ConclusionsThe use of HD Grid mapping catheter is a safe and valuable adjunct to accurately create voltage and activation mapping in ACHD patients undergoing radiofrequency catheter ablation. However, a contact force-sensing ablation catheter should be considered in conjunction to supplement data acquisition in challenging anatomy and substrates.

Post-operative course of pulmonary artery pressure after complete atrioventricular canal defect repair.

The purpose of this study is to describe the evolution of pulmonary artery hypertension after repair of complete atrioventricular canal defect and to determine the time to normalisation of pulmonary artery pressure in both patients with and without Trisomy 21. This is a single centre, retrospective analysis of patients with complete atrioventricular canal defect admitted for surgical repair at the University of Maryland Medical Center from 2005 to 2015. T-test or Mann-Whitney test and Chi-Square or Fisher's exact tests were used to compare the two groups (patients with Trisomy 21 and those without). Repeated measures of analysis of variance and serial measurement analysis were performed. Twenty-nine patients meeting the inclusion criteria underwent repair of complete atrioventricular defects during the study period. The right ventricular pressure estimate remained elevated over time and did not show a significant difference between the two groups. Right ventricular to systolic blood pressure ratios for all patients remained > 0.5 over the time periods assessed. Our study suggests that in patients with complete atrioventricular canal defects, the right ventricular pressure remains elevated and does not normalise on echocardiograms performed up to one year after surgery, suggesting a sustained elevation in pulmonary vascular resistance.

Severe T-System Remodeling in Pediatric Viral Myocarditis.

Chronic heart failure (HF) in adults causes remodeling of the cardiomyocyte transverse tubular system (t-system), which contributes to disease progression by impairing excitation-contraction (EC) coupling. However, it is unknown if t-system remodeling occurs in pediatric heart failure. This study investigated the t-system in pediatric viral myocarditis. The t-system and integrity of EC coupling junctions (co-localization of L-type Ca2+ channels with ryanodine receptors and junctophilin-2) were analyzed by 3D confocal microscopy in left-ventricular (LV) samples from 5 children with myocarditis (age 14 ± 3 months), undergoing ventricular assist device (VAD) implantation, and 5 children with atrioventricular septum defect (AVSD, age 17 ± 3 months), undergoing corrective surgery. LV ejection fraction (EF) was 58.4 ± 2.3% in AVSD and 12.2 ± 2.4% in acute myocarditis. Cardiomyocytes from myocarditis samples showed increased t-tubule distance (1.27 ± 0.05 μm, n = 34 cells) and dilation of t-tubules (volume-length ratio: 0.64 ± 0.02 μm2) when compared with AVSD (0.90 ± 0.02 μm, p < 0.001; 0.52 ± 0.02 μm2, n = 61, p < 0.01). Intriguingly, 4 out of 5 myocarditis samples exhibited sheet-like t-tubules (t-sheets), a characteristic feature of adult chronic heart failure. The fraction of extracellular matrix was slightly higher in myocarditis (26.6 ± 1.4%) than in AVSD samples (24.4 ± 0.8%, p < 0.05). In one case of myocarditis, a second biopsy was taken and analyzed at VAD explantation after extensive cardiac recovery (EF from 7 to 56%) and clinical remission. When compared with pre-VAD, t-tubule distance and density were unchanged, as well as volume-length ratio (0.67 ± 0.04 μm2 vs. 0.72 ± 0.05 μm2, p = 0.5), reflecting extant t-sheets. However, junctophilin-2 cluster density was considerably higher (0.12 ± 0.02 μm−3 vs. 0.05 ± 0.01 μm−3, n = 9/10, p < 0.001), approaching values of AVSD (0.13 ± 0.05 μm−3, n = 56), and the measure of intact EC coupling junctions showed a distinct increase (20.2 ± 5.0% vs. 6.8 ± 2.2%, p < 0.001). Severe t-system loss and remodeling to t-sheets can occur in acute HF in young children, resembling the structural changes of chronically failing adult hearts. T-system remodeling might contribute to cardiac dysfunction in viral myocarditis. Although t-system recovery remains elusive, recovery of EC coupling junctions may be possible and deserves further investigation.

Heterotaxy Syndrome in a Pediatric Cardiac Patient: A Case Report of Rare, Complex Congenital Heart Defects

BackgroundHeterotaxy syndrome, or situs ambiguous, is a multitude of thoracoabdominal congenital irregularities involving organ rearrangements across the body axis. The array of symptoms can be subdivided into either left or right isomerism, which conventionally refers to the anatomy of the designated side presenting bilaterally. While there have been approximately 266 case reports published on heterotaxy syndrome to date, no case report has documented the combination of symptoms seen in our patient, who presents with defects characteristic of both left and right isomerism.PresentationA male infant was delivered early at gestational age 37 weeks and 3 days, due to poor fetal growth. Fetal echocardiogram had been performed prior to delivery and was indicative of complex congenital heart defects, specifically heterotaxy syndrome with dextrocardia, double‐outlet right ventricle with transposed great arteries, a complete atrioventricular canal defect, a large ventricular septal defect and a large common atrium. The suspected defects were confirmed after delivery via echocardiography and cardiac catheterization. Given that heterotaxy can occur by itself or as a secondary feature of another genetic disorder, karyotyping via chromosomal array and chromosomal analysis were performed; however, no chromosomal or genetic abnormalities were identified.Results – Anatomical Features ‐Mirror image dextrocardia with the inferior vena cava and descending aorta located to the left of the spine at the level of the diaphragm ‐There is both a large septum primum and septum secundum defect, which gives rise to essentially a single common atrium, with unrestricted flow across the atrium. The anatomic right atrium is on the patient left, and the anatomic left atrium is on the patient right ‐There are bilateral superior vena cava draining into the anatomic right side of the common atrium is on the patient left. All four pulmonary veins drain into the anatomic left atrium on the patient right. There is also anomalous drainage of the inferior vena cava into the anatomic left atrium is on the patient right ‐The anatomic right ventricular on the patient left gives rise to both the aorta and main pulmonary artery – double‐outlet right ventricle. There is also is transposition of the aorta and main pulmonary artery ‐There is a complete atrioventricular defect with a single common atrioventricular valve with few chordae tendinae attached to the ventricular septum ‐There is severe pulmonary valve stenosis with no appreciable regurgitation. There is no aortic valve stenosis or regurgitation, and the aortic valve is appropriately tri‐leafletConclusionThis form of heterotaxy syndrome partially matches both right and left atrial isomerism. Double‐outlet right ventricle, malposition of the great vessels, and pulmonary and subpulmonary stenosis are typical of right atrial isomerism. In contrast, the common atrioventricular canal defect, bilateral superior vena cava, and anomalous drainage of the inferior vena cava hint at left atrial isomerism. This anatomical case reports highlights the complexity of heart development and highlights the complexity of surgical and long‐term clinical management of heterotaxy syndrome.Cardiac catheterization visualization of dextrocardia and bilateral superior vena cava draining into patients left‐side of common atriumFigure 1Echocardiography visualization of common atrium with small intact septum (yellow arrow), common atrioventricular valve (red arrow), and ventricular septal defect (purple asterisk)Figure 2

An Unusual Atrial Septal Defect Producing Symptoms in a Young Lady

Atrial septal defect is the most common congenital heart disease among adult population. Secundum variety of atrial septal defect comprises most frequently encountered atrial septal anomaly which presents during late age. Primum atrial septal defect usually associated with atrio-ventricular cushion defect among patients with Down syndrome. Small number of patients may present with fenestrated atrial septal defect. We have presented case of a woman who is young and symptomatic due to atrial septal defect comprising both secundum and primum type.

Normothermia versus Hypothermia during Cardiopulmonary Bypass in Cases of Repair of Atrioventricular Septal Defect.

Background:Cardiopulmonary bypass (CPB) used for cardiac surgery is now uniformly carried out under normothermic conditions in adult patients; however, the temperature applied in pediatric CPB vary significantly, ranging from deep hypothermia to normothermia due to the lack of a consistent approach to CPB temperature in pediatric cardiac surgery, which is related to a lack of supportive evidence. Organs protection aim to decrease metabolic requirement and provide energy and oxygen, hypothermia has reached these goals by arresting and cooling the heart, delivering oxygen, and modifying reperfusion. Recently, a large number of studies investigated effect of hypothermia to decrease the negative impact of hypothermia. It has been suggested that the degree of hypothermia affects the inflammatory responses triggered by CPB. However, the use of normothermia during CPB had been introduced and resulted in acceptable results. We hypothesized that the use of normothermia during corrective surgery of AV septal defects improves the outcome of the CPB.Objective:The study aimed to compare the outcome of normothermic technique and mild hypothermic technique during (CPB) in pediatric cardiac patients undergoing repair of atrioventricular (AV) septal defect and their effect on tissue perfusion, serum lactate level, duration of patient intubation, and postoperative hospital stay.Patients and Methods:Forty patients presented for repair of AV defect aged from 1 month to 36 months were divided randomly into two equal groups (20 patients in each): Group I (Normothermic group) of body temperature more than 35°C up to 37°C and Group II (mild Hypothermic group) body temperature between (32°C–35°C). Basal data include complete blood count, electrolytes, arterial blood gases (ABGs), coagulation profile, and liver function tests were collected. Hemodynamic variables, ABG, serum lactate, and activated clotting time (ACT) measured in different time intervals related to CPB. With the termination of CPB, aortic cross-clamping time (minutes), CPB time (minutes), spontaneous regaining of the heart function, need for inotropic administration, and/or vasopressor requirements to wean the heart from CPB were reported in all patients.Results:This study showed statistically significant lower PH and HCO3 levels and significantly higher serum lactate levels in Group II (hypothermic) than Group I (normothermic) after weaning from CPB. Furthermore, ACT level was statistically significantly higher in Group II than Group I after weaning of CPB. During postoperative period, hypothermic group showed significantly higher liver enzymes than the normothermic group. The duration of inotropes administration and duration of intubation were significantly longer in Group II than Group I.Conclusion:Normothermia during CPB showed better global tissue perfusion than hypothermia in elective surgeries for repair of AV defects in the form of less degree of lactic acidosis, less effect on coagulation system, shorter duration of inotropic support, shorter intubation period, and shorter stay in the intensive care unit.

Characteristics and outcomes of fetuses with laterality defects are the current outcomes better? A single center study

Objective: To analyze the more recent outcomes of fetuses with different laterality defects.Material and methods: Out of 1508 fetuses with congenital heart disease (CHD) diagnosed by echocardiography between January 1995 and December 2015, 94 (6.3%) presented abnormal visceroatrial situs: 42 till December 2002 (group 1, analyzed retrospectively) and 52 since then until December 2015 (group 2, analyzed prospectively). Twenty-one had left isomerism (Lisom), 22 right isomerism (Risom), 16 situs inversus- dextrocardia (SVI-dx), 5 situs inversus- levocardia (SVI-levo), and 30 situs solitus-dextrocardia (SSol-dx).Results: Seventy-six cases (81%) had CHD, more frequently complex atrioventricular defect. Eighteen cases showed normal heart: half of subgroups SVI-dx and SVI-levo, a third of SSol-dx. Postoperative mortality in continuing pregnancy in group 2 was 43.7 versus 40% in group 1, lower in SVs-dx (0 versus 50%) and Lisom (33.3 versus 66.7%), worse in Risom (71.4 versus 25%). Total mortality in group 2 was 48.3 versus 55% in group 1, better in Ssol-dx (37.5 versus 50%) and in Lisom (27.4 versus 71.4%). In isolated forms all but one case are alive.Conclusions: Our fetal cases presented a relevant mortality in both periods. The outcomes were slightly better in a more recent era in SSol and Lisom.What is known about this topic?Out of laterality defects, the heterotaxies (i.e. left and right isomerism) are known to be associated to a relevant mortality in fetal and neonatal cases.Heterotaxies have a variable position of the heart, but some authors evaluated only those with dextrocardia in their studies on different laterality defects.Controversial data are presented in the literature for the outcomes of fetuses with laterality defects. Many large studies analyzed the data of a very long time period in which it is opinable to compare the results of the treatment, because of a recent improved management and surgical techniques.What does this study add?Our study presents an experience of a single center with cases of different types of laterality defects observed during a routine fetal echocardiography, not only heterotaxies.The knowledge of different laterality defects and of their characteristics (association with cardiac and extracardiac anomalies or with normal heart) is useful for the prenatal counseling.We compare the postoperative and total mortality in more recent period (since 2003) with respect to the previous era (1995–2002).

Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders.

BackgroundFollistatin‐like 1 (Fstl1) is a glycoprotein expressed throughout embryonic development. Homozygous loss of Fstl1 in mice results in skeletal and respiratory defects, leading to neonatal death due to a collapse of the trachea. Furthermore, Fstl1 conditional deletion from the endocardial/endothelial lineage results in postnatal death due to heart failure and profound atrioventricular valve defects. Here, we investigated patients with phenotypes similar to the phenotypes observed in the transgenic mice, for variants in FSTL1.MethodsIn total, 69 genetically unresolved patients were selected with the following phenotypes: campomelic dysplasia (12), small patella syndrome (2), BILU (1), and congenital heart disease patients (54), of which 16 also had kyphoscoliosis, and 38 had valve abnormalities as their main diagnosis. Using qPCR, none of 69 patients showed copy number variations in FSTL1. The entire gene body, including microRNA‐198 and three validated microRNA‐binding sites, were analyzed using Sanger sequencing.ResultsNo variants were found in the coding region. However, 8 intronic variants were identified that differed significantly in their minor allele frequency compared to controls. Variant rs2272515 was found to significantly correlate (p < 0.05) with kyphoscoliosis.ConclusionWe conclude that pathogenic variants in FSTL1 are unlikely to be responsible for skeletal or atrioventricular valve anomalies in humans.

Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome

Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78-day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8.2 mmol/L) and 381 mg/dL (21.2 mmol/L) three days after undergoing a complete repair of an atrioventricular defect. Hemoglobin A1c was 6.6%. The patient was born at term with a birth weight of 2.16 kg following a pregnancy complicated by gestational diabetes that was controlled with diet. The patient was initially started on a continuous intravenous insulin drip and subsequently placed on subcutaneous insulin (glargine, human isophane and regular insulin). Insulin was gradually decreased and eventually discontinued at seven months of age. Chromosomal microarray at 11 weeks of age showed XXY and a panel-based, molecular test for neonatal diabetes revealed a pathogenic heterozygous variant c.685G>A (p.Glu229Lys) in KCNJ11. The patient is now 34 months old and continues to have normal fasting and post-prandial glucose and HbA1C levels. The patient will need prospective follow up for assessment of his glycemic status. To our knowledge this is the second reported case of neonatal diabetes in an infant with Klinefelter syndrome and the first due to a mutation in the KCNJ11 in a patient with Klinefelter syndrome.

Excess ω-6 fatty acids influx in aging drives metabolic dysregulation, electrocardiographic alterations, and low-grade chronic inflammation.

Maintaining a balance of ω-6 and ω-3 fatty acids is essential for cardiac health. Current ω-6 and ω-3 fatty acids in the American diet have shifted from the ideal ratio of 2:1 to almost 20:1; while there is a body of evidence that suggests the negative impact of such a shift in younger organisms, the underlying age-related metabolic signaling in response to the excess influx of ω-6 fatty acids is incompletely understood. In the present study, young (6 mo old) and aging (≥18 mo old) mice were fed for 2 mo with a ω-6-enriched diet. Excess intake of ω-6 enrichment decreased the total lean mass and increased nighttime carbohydrate utilization, with higher levels of cardiac cytokines indicating low-grade chronic inflammation. Dobutamine-induced stress tests displayed an increase in PR interval, a sign of an atrioventricular defect in ω-6-fed aging mice. Excess ω-6 fatty acid intake in aging mice showed decreased 12-lipoxygenase with a concomitant increase in 15-lipoxygenase levels, resulting in the generation of 15( S)-hydroxyeicosatetraenoic acid, whereas cyclooxygenase-1 and -2 generated prostaglandin E2, leukotriene B4, and thromboxane B2. Furthermore, excessive ω-6 fatty acids led to dysregulated nuclear erythroid 2-related factor 2/antioxidant-responsive element in aging mice. Moreover, ω-6 fatty acid-mediated changes were profound in aging mice with respect to the eicosanoid profile while minimal changes were observed in the size and shape of cardiomyocytes. These findings provide compelling evidence that surplus consumption of ω-6 fatty acids, coupled with insufficient intake of ω-3 fatty acids, is linked to abnormal changes in ECG. These manifestations contribute to functional deficiencies and expansion of the inflammatory mediator milieu during later stages of aging. NEW & NOTEWORTHY Aging has a profound impact on the metabolism of fatty acids to maintain heart function. The excess influx of ω-6 fatty acids in aging perturbed electrocardiography with marked signs of inflammation and a dysregulated oxidative-redox balance. Thus, the quality and quantity of fatty acids determine the cardiac pathology and energy utilization in aging.

Technical performance scores are predictors of midterm mortality and reinterventions following congenital mitral valve repair.

The Technical Performance Score (TPS) has been shown to be predictive of postoperative mortality, morbidities and reinterventions following various cardiac procedures in children. We hypothesized that TPS is also a predictor of mitral valve repair outcomes. A review of patients who underwent mitral valve repair from January 2000 to December 2013 was performed. Primary repair of complete atrioventricular defect was excluded. The scores were determined according to previously published criteria based on the need for reintervention and predischarge echocardiograms: Class 1 (no residua), Class 2 (minor residua) or Class 3 (pacemaker implantation, major residua or reintervention for major residua prior to discharge). Cox proportional hazard models and Kaplan-Meier estimator were used. A total of 587 patients underwent mitral repair (median age 2.6 years). Median follow-up duration was 3 years. There were 125 (21.3%) post-discharge mitral reinterventions and freedom from reintervention was 85.2%, 78.2% and 69.4% at 1, 2 and 5 years, respectively. Both TPS Class 2 [hazard ratio (HR) 3.6, 95% confidence interval (CI) 1.4-10.0; P = 0.02] and Class 3 (HR 8.7, 95% CI 3.0-25.1; P < 0.001) were associated with post-discharge reinterventions. There were 31 late deaths/transplantations, and transplant-free survival at 1, 2 and 5 years was 97.8%, 95.3% and 93.2%. TPS 3 was associated with decreased post-discharge transplant-free survival (HR 5.5, 95% CI 1.2-25.0; P = 0.03). Post-discharge mitral reintervention was not associated with increased mortality. The TPS is a strong predictor of midterm mortality and post-discharge mitral reintervention in congenital patients who underwent mitral repair.

Occurrence of Congenital Heart Disease among Children with Down syndrome: What is the Influence of Maternal Age?

Abstract Background: The occurrence of Down syndrome is strongly dependent on maternal age and incidence varies at various maternal ages. This incidence may differ from one country to another according to the social and environmental factors predominant in such countries. The study aims to document the prevalence of congenital heart defects in patients with Down syndrome, identify the association between maternal age and occurrence of congenital heart disease among these subjects Methods: The study was prospective, cross-sectional and consecutive, involving subjects from two centers which were; a tertiary hospital, a private hospital which is a major cardiology center. Children with clinical features of Down syndrome had transthoracic echocardiography done by a cardiologist. Results: A total of 195 patients with Down syndrome were studied ages between1day to 12years. The mean age + SD were 241.03 + 529.71days and male to female ratio of 1.04:1. The mother’s age range was from 19 to 44years with a mean age + SD of 32.36 + 5.43 years. Up to 16.9% had structurally normal heart. The most common heart defect was atrioventricular septal defect 24.1%. There was no significant association between maternal age and occurrence of congenital heart defects in the subjects. Conclusion: The incidence of congenital heart disease is high among subjects with Down syndrome. Atrioventricular defects were the commonest cardiac defect among the subjects. The incidence of congenital heart defect in the subjects was decreasing from maternal age 36 years and above. Routine cardiac evaluation including echocardiography is recommended for all patients with Down syndrome.