15^th International Conference On Pediatrics and Pediatric Cardiology February 19-20, 2018 Paris, France(Holiday Inn Paris – Marne La Vallée Noisy-le-grand)

Biography:

Vladimir Rotrekl has completed his PhD from Masaryk University in Czech Republic and Max Planck Institute in Cologne (DE) and Postdoctoral studies from Health Science Center at San Antonio, University of Texas, USA. He is the Assistent Professor and Scientific Board Member at the Department of Biology, Masaryk University and Group Leader of Stem Cell and Disease Modelling group at the International Research Center (ICRC) at St Annes University Hospital in Brno, Czech Republic. He has published more than 20 papers in reputed journals.

Abstract:

Duchenne muscular dystrophy (DMD) is a genetic condition characterized by the lack of functional dystrophin. Majority of the DMD patients develops heart muscle fibrosis and cardiomyopathy, leading to heart failure. Although several molecular mechanisms leading to the DMD cardiomyocyte death were described during the recent decades, the link between dystrophin deficiency and delayed onset of cardiomyopathy is still unclear. Recent evidence suggests involvement of progenitor population failure: thus we focused on studying DMD stem cells. In order to dissect the mechanism of cardiac progenitor cells (CPCs) depletion in humans, we used DMD patient specific induced pluripotent stem cell model and human embryonic stem cells with dystrophin mutation introduced by CRISPR/Cas technology (DMD hPSC for both models). We observed that absence of dystrophin in DMD hPSC leads to dysregulation of nitric oxide synthase (NOS), resulting in excessive release of reactive oxygen species (ROS). ROS are in turn associated with increased DNA damage and elevated mutant frequency in DMD hPSCs. The inhibition of NOS or ROS scavenging, results in DNA damage reduction. Finally we observed dramatic increase in CPCs population in young adult (2-3 months) mdx mice hearts, followed by steep decrease in mature animals, which is in contrast to stable CPCs population in WT mouse hearts. CPCs depletion in mdx animal hearts is associated with elevated nuclear DNA damage. Based on these results, we suggest that elevated proliferation of CPCs together with NOS induced-ROS mediated-genomic instability leads to CPCs depletion, and subsequently to limited regenerative capacity of the heart muscle.

Biography:

Robert Gajda Director and Owner of Center for Sports Cardiology (CSC) at the Gajda-Med Medical Center in Pułtusk, Poland. He is a Cardiologist and respected Sports Medicine Physician. His main area of research interest include physiological adaptation to endurance training as well as to extreme endurance efforts. He cooperates with best Polish scientific institutes in this field and is an author or co-author of many papers and lectures including papers published in Scandinavian Journal of Medicine & Science in Sports and Journal of Cardiology. He is an active runner and record holder of Polish medics in marathon.

Abstract:

Millions of physically active individuals worldwide use heart rate monitors (HRMs) to control their exercise intensity. In many cases, the HRM indicates an unusually high heart rate (HR) or even arrhythmias during training. Unfortunately, studies assessing the reliability of these devices to help control HR disturbances during exercise did not exist. We examined 142 regularly training endurance runners and cyclists, aged 18-51, with unexplained HR abnormalities indicated by various HRMs to assess the utility of HRMs in diagnosing exertion-induced arrhythmias. Each athlete simultaneously wore a Holter electrocardiogram (ECG) recorder and an HRM during typical endurance training in which they had previously detected “arrhythmias” to verify the diagnosis. Average HRs during exercise were precisely recorded by all types of HRMs. No signs of arrhythmia were detected during exercise in approximately 39% of athletes, and concordant HRs were recorded by the HRMs and Holter ECG. HRMs indicated surprisingly high short-term HRs in 45% of athletes that were not detected by the Holter ECG and were artifacts. In 15% of athletes, single ventricular/supraventricular beats were detected by the Holter ECG but not by the HRM. We detected a serious tachyarrhythmia in the HRM and Holter ECG data with concomitant clinical symptoms in only one athlete, who was forced to cease exercising. We conclude that the HRM is not a suitable tool for monitoring heart arrhythmias in athletes and propose an algorithm to exclude the suspicion of exercise-induced arrhythmia detected by HRMs in asymptomatic, physically active individuals.

Biography:

Robert Gajda Director and Owner of Center for Sports Cardiology (CSC) at the Gajda-Med Medical Center in Pułtusk, Poland. He is a Cardiologist and respected Sports Medicine Physician. His main area of research interest include physiological adaptation to endurance training as well as to extreme endurance efforts. He cooperates with best Polish scientific institutes in this field and is an author or co-author of many papers and lectures including papers published in Scandinavian Journal of Medicine & Science in Sports and Journal of Cardiology. He is an active runner and record holder of Polish medics in marathon.

Abstract:

Millions of physically active individuals worldwide use heart rate monitors (HRMs) to control their exercise intensity. In many cases, the HRM indicates an unusually high heart rate (HR) or even arrhythmias during training. Unfortunately, studies assessing the reliability of these devices to help control HR disturbances during exercise did not exist. We examined 142 regularly training endurance runners and cyclists, aged 18-51, with unexplained HR abnormalities indicated by various HRMs to assess the utility of HRMs in diagnosing exertion-induced arrhythmias. Each athlete simultaneously wore a Holter electrocardiogram (ECG) recorder and an HRM during typical endurance training in which they had previously detected “arrhythmias” to verify the diagnosis. Average HRs during exercise were precisely recorded by all types of HRMs. No signs of arrhythmia were detected during exercise in approximately 39% of athletes, and concordant HRs were recorded by the HRMs and Holter ECG. HRMs indicated surprisingly high short-term HRs in 45% of athletes that were not detected by the Holter ECG and were artifacts. In 15% of athletes, single ventricular/supraventricular beats were detected by the Holter ECG but not by the HRM. We detected a serious tachyarrhythmia in the HRM and Holter ECG data with concomitant clinical symptoms in only one athlete, who was forced to cease exercising. We conclude that the HRM is not a suitable tool for monitoring heart arrhythmias in athletes and propose an algorithm to exclude the suspicion of exercise-induced arrhythmia detected by HRMs in asymptomatic, physically active individuals.

Biography:

Inge Schalkers has obtained her PhD degree in 2016 with the dissertation entitled “Quality of Paediatric Hospital Care. Understanding the Perspectives of Children and Families”. Now she works as a Policy Advisor for ‘De Hart &Vaatgroep’, a Dutch patient organisation representing the interests of people with cardiovascular diseases. Her area of interest lies in the organisation of patient participation in cardiovascular research. 

Abstract:

Children are not just small adults; they need to be diagnosed and treated in the context of their rapid growth and development. However, in guideline development, children’s needs and interests are still overlooked. This study aims to develop a tool that could stimulate guideline developers to take children into account on a more structural basis and to explore how to facilitate children’s participation in the process of guideline development. A three-phase multimethod sequential study design was used. Professionals involved in guideline development participated in interviews (n=12), filled in a questionnaire (n=60) and/or participated in the focus group meeting (n=11). The study results in a comprehensive understanding of the considerations that professionals take into account when deciding whether guidelines need to apply to children specifically. This resulted into a tool that assists guideline developers to make this assessment more accurately. It takes the form of a flowchart that guides users through a series of critical questions. The flowchart reminds guideline developers to consider children as a particular patient population when prioritizing and demarcating new guideline topics. It will help to ensure that clinical guidelines address children’s unique health care needs and perspectives. Facilitating children’s and parent’s participation in the process of guideline development is perceived as challenging; nevertheless, it should be the next step in making paediatric guidelines more child-centred and family-centred.

Biography:

Early detection of cardiac allograft vasculopathy (CAV) presents a challenge to pediatricians since symptoms of myocardial ischemia (eg, classic angina pectoris symptoms) are typically absent or atypical. Although rhythm disturbances are related to CAV, Sick Sinus Syndrome (SSS) remains an elusive sign of vasculopathy. An 18 year old male with history of heart transplant in 2011 secondary to myocarditis and associated dilated cardiomyopathy, presented to our pediatric emergency room due to chest tightness and shoulder pain on exertion without associated fevers, cough, leg swelling, or increased abdominal girth. Cardiac enzymes and electrocardiography (ECG) performed at that time were found within normal limits and patient was discharged home. Three days later, patient awoke from sleep with shortness of breath and dizziness, stating episodes of “slow beats” and near-syncope during the previous days precipitated during hot showers. He returned to ER where cardiac monitoring placed and noted with tachycardia/bradycardia paroxysms without ST segment changes on ECG. BNP and Panel Reactive Antibodies were sent and found elevated, therefore patient was transferred to Cardiovascular Center for suspected transplant rejection, allograft vasculopathy, and associated sick sinus syndrome. He was taken to cardiac angiography which revealed severe (>90%) stenosis of multiple segments of right coronary artery requiring bare-metal stent placement with immediate evidence of appropriate revascularization. SSS is defined by ECG abnormalities (eg, bradycardia, sinus pauses, sinus arrest) that occur in association with clinical signs and symptoms. It should be widely recognized and alarm primary physicians of serious underlying vasculopathies, particularly in the pediatric population.

Abstract:

Guillermo Torres Viera is a Medical Resident currently completing his fourth year in the Combined Internal Medicine-Pediatrics Residency Program of the University of Puerto Rico School of Medicine. He completed his MD at the University of Puerto Rico in 2014 and entered the first class of this combined specialty program to be created in Puerto Rico for the advancement of knowledge and skill in the effective transition from youth to adulthood. He is currently also pursuing his Master’s in Clinical and Translational Research focused towards the identification and prevention of early-onset cardiovascular disease.

Biography:

Megan Koehle is a medical student at Ludwig Maximilian University in Munich, Germany. She is currently pursuing her medical doctorate with the research group SFB 914 at said institution and is employed at the Munich Transplant Center.

Abstract:

We report the case of a 66 year old female who presented to our institution fourteen years after receiving a St. Jude Mechanical Mitral Valve Replacement. She presentedin refractory NYHA class IV congestive heart failure with comorbidities of acute renal failure, liverfailure, and mental status changes. She was found to have immobility of one of the mitral valvedisks with resultant severe mitral stenosis with a mean pressure gradient of 12 mmHg.

Evaluation and Management: The patient was found to have an STS predicted mortality of 39%with redo surgical MVR, and evaluation by the valve team led to a recommendation of a hybridsurgical and transcatheter procedure. The patient underwent femoral bypass and hypothermiawith a sternotomy and left atrial approach. The mechanical discs were removed utilizing needle drivers without removal of the St. Jude ring. Subsequently, a 26 mm Edwards Sapien XT valve wasdeployed under direct and fluoroscopic visualization.The patient had an event free post-operativ e course, and one year following the proced urehas had an outstandi ng clin ical r esponse with NYHA class II congestive heart fai lure. Her echocardiogram reveals normal valve function with a MPG of 4 mmHg without mitral regurgitation.

Conclusion: Transatrial hybrid TMVR within the ring of a St. Jude mechanical mitral valve appearsto be a feasible procedure which may be used in the future to decrease morbidity and mortalityassociated with high-risk redo-MVR in patients with mechanical mitral valve prostheses.We report the case of a 66 year old female who presented to our institu-tion fourteen years after receiving a St. Jude Mechanical Mitral Valve Replacement. She presented in refractory NYHA class IV congestive heart failure with comorbidities of acute renal failure, liver failure, and mental status changes. She was found to have immobility of one of the mitral valve disks with resultant severe mitral stenosis with a mean pressure gradient of 12mmHg.

Biography:

Jean AMIRAL, PhD, has been working for 40 years in the coagulation area, first as scientific director of Diagnostica Stago (until 1998), then as the founder of HYPHEN BioMed and its scientific and research director (until 2012), and is now scientific and technical consultant for HYPHEN BioMed and Sysmex. He developed many assays for hemostasis and thrombosis, and participate to many studies. He discovered PF4, when complexed with heparin, as the target for heparin induced antibodies.

Abstract:

Prophylaxis of Hemophilia, identified early in life, is becoming an important requirement from affected patients and society, in all countries demanding treatments for managing hemorrhages. Such a therapeutic modality highly improves hemophiliacs’ quality of life, through a dramatic reduction of severe bleeding events and disease burdens. Availability of recombinant proteins has introduced an abundant offer of therapeutic products, and overwhelms limitations of blood extracted products. The recent introduction of long-acting products reduces the frequency and constraints of prophylaxis therapy, but there is an important cost for public health, and individual monitoring of drug kinetics in treated patients allows optimizing the associated costs, as conventional clotting assays are APTT based methods, prerequisite FVIII or FIX deficient. New recombinant and long-acting products (Glyco-pegylated, Fc or Human Albumin fusion proteins) can present huge differences with the different APTT reagents, and drug-specific calibrators can be needed. Availability of multiple drugs, which present different behaviors in the assays, renders APTT based clotting assays inappropriate for monitoring drug kinetics in treated patients. Chromogenic assays are now available for overcoming these inconveniences: all blood extracted, recombinant, or long-acting products generate the same dose-response curves for a same product potency. We have experience with Biophen™ Factor VIII and Biophen™ Factor IX chromogenic assays, which can be calibrated using plasma calibrators with assigned FVIII or FIX concentrations, and can be used for all drugs. Dynamic ranges cover all concentrations from < 10% to > 200% FVIII or FIX activity, and low range protocols are available for concentrations down to 0.1%. Assays are automatable on all coagulation platforms, and can be used with the micro-Elisa plate format for high throughput testing. Multicentric studies have demonstrated the robustness of these chromogenic assays, with good reproducibility and accuracy, and high reliability between centers. These assays are now widely used for the various FVIII or FIX drug potency value assignment in pharmaceutic industry. Internal standards are available. They are established against the WHO International Standards, for FVIII or FIX concentrates, and they are prepared and supplied by NIBSC (Potters Bar, UK).

Biography:

Jerard Seghatchian the senior longstanding editor of Transfusion Apheresis Science [TRASCI] and international consultant in transfusion and transplant. . He is presently a senior member of both Best Collaborative and ISTH. He has published more than 390 papers in peer reviewed reputable journals and coedited 5 books in various quality and safety transfusion aspects. He has been serving as an editorial board member TRASCI and section senior editor of the journal.

Abstract:

This commentary encompasses, as a preamble, the current views on the laboratory and clinical aspects of pediatric transfusion, cellular therapy and apheresis emergencies, all appearing as theme in TRASCI , appering in April 2018{1}.

In brief, the key areas of this presentation embody: firstly, the newer insights into pediatric apheresis including, hematopoietic progenitor stem cell collection, challenging dynamics of progenitor cell recruitment, individual adaptation of procedural parameters and vigilant evaluation of risk factors/adverse effects: secondly, the essentials in pediatric transfusion with innovative DDR questions in screening, manufacturing processes/procedures, quality assurance, and opportunities for standardization of personalized clinical practices.

IN RESPECT TO WHERE WE WERE AND WHERE ARE NOW:

One of the most important challenges in transfusion practice is to provide factual reflections and evidence-based recommendations on pediatric transfusion, a highly complex area of transfusion science and medicine, covering a broad range of patients from intrauterine life to young adults. In clinical pediatric practice an effective transfusion embodies enormous opportunities & challenges at all levels; for laboratories to be upgraded continuously with validated newer and safer technologies; for suppliers to produce the safest and highly specialized components; for physicians to select applicable components or alternatives while balancing the risks and benefits. A high quality research and development strategies are still needed on which the guidelines should be based.

IN RESPECT TO WHERE WE ARE GOING!

Continual efforts are directed in developing many innovative approaches to this multidisciplinary field by key opinion holders to provide a collective platform for TRASCI readers in line with our future plan (1). This is of particular relevance to current situation as we are witnessing the newer products/processes being introduced to the pediatric fields. 

Biography:

Elie Ghoussoub is a Lebanese Medical Doctor practicing Neonatology. He currently serves as a Neonatal Fellow at CHI-André Grégoire, Montreuil-France where he has worked since June 2017. He completed his residency in Pediatrics at CHU-NDS, Jbeil-Lebanon and Rafic Hariri University Hospital, Beirut-Lebanon. He has special interest in Neonatal Cardiology. His practice focuses on extreme prematurity and patent ductus arteriosus. 

Abstract:

Pulmonary hemorrhage is frequently associated with hemodynamically-significant Patent Ductus Arteriosus (hsPDA) especially in premature infants, and considered a major risk for mortality and morbidities in this population. We have studied pulmonary hemorrhage incidence in extreme premature infants after the implementation of a new protocol of early ultrasonographic diagnosis followed by ibuprofen-based treatment. In 2016, a new protocol was introduced for early diagnosis and treatment within the first 24 hours of life of premature infants born less than 26 weeks of gestation and/or less than 1000 grams. Three of the 4 criteria present on cardiac ultrasound (12 to 24 hours of life) were needed to confirm hsPDA: Left atrium/Aorta ratio > 1.5 mm, Ductus arteriosus diameter > 1.5 mm, Transductal flow velocity < 2 m/sec and mean left pulmonary artery velocity > 0.2 m/sec. We realized a study divided into 2 parts. The first one was retrospective of children born from September 2015 to August 2016 (PDA-1) and the second prospective of children born from September 2016 to May 2017 (PDA-2). 55 premature infants were illegible for the study: 31 in PDA-1 cohort and 24 in PDA-2 group. We noticed a tendency to a reduction in the incidence of pulmonary hemorrhage in PDA-2 compared to PDA-1 cohort (4.3% vs. 29.1% respectively; p = .055) but not statistically significant. The survival rate was increased by third in PDA-2 group (91.5% vs. 67.7%; p=.033). Screening and early-treatment of a hsPDA did not show a significant reduction of pulmonary hemorrhage incidence, but increased the survival rate of infants born less than 26 weeks of gestation and/or less than 1000 grams by third.

Biography:

Oberhuber R D works as a Clinical Health Psychologist at the Kepler University Hospital in Linz, Children’s Heart Center, Austria, as well as working in private practice and teaching as Professor of Psychology at the University of Education of Upper Austria. As a heart patient (CHD) himself, and as a Scientist he is uniquely able to empathize and communicate with heart patients and their families and to provide them with expert professional care.

Abstract:

Introduction: Neurological and radiologic research results show an abnormal cerebral micro-structure as well as abnormal neurodevelopment in patients treated for hypoplastic left heart syndrome. The aim of this study was to assess the varying cognitive performance these children have developed in dependence upon prenatal diagnosis, surgical techniques, surgical learning effects, anatomy, perfusion techniques, gender, pedagogic and sociodemographic parameters in comparison to age-adjusted normative values.

Methods: School-age children (6.3-16.9 years) with hypoplastic left heart syndrome, who were treated at the Children’s heart Center Linz between 1997 and 2009, (n=74), were surveyed about cognitive achievements. 43 patients were examined prospectively by psychologists using the Wechsler Intelligence Scale for Children IV to determine the respective total intelligence quotient index for each child’s developmental stage.

Results: The mean index was 84.5 (percentile rank 26.4). The statistical spread and standard deviation ranged from a minimum of 40 to a maximum of 134±20.8. The results for verbal comprehension, perceptual reasoning, and processing speed corresponded with total index results and were thus lower than the mean value of the normative values. The assessment of working memory showed results in the average. Prenatal diagnosis, type of lung perfusion, anatomy, and various cerebral perfusion techniques did not significantly affect the cognitive results of the patients.

Conclusion: The results show that hypoplastic left heart syndrome patients can be successfully tutored formally as well as personally in cognitive areas, although when compared to healthy children, they showed lower results for intellectual area parameters.

Biography:

Kaddoum R N joined AUBMC in 2011 as Assistant Professor at the Department of Anesthesiology from St. Jude Children’s Research Hospital in Memphis TN where he worked from 2008 till 2011. He conducted clinical Research at St. Jude and his main interests were the management of chronic pain in children with cancer, pediatric regional anesthesia, and pediatric airway management in children with mediastinal masses. He is currently Director of Pediatric Anesthesia and Director of the Operating Room at the American University of Beirut Medical Center. He has also been recently promoted to Associate Professor of Clinical Anesthesiology. His main focus at AUBMC is pediatric open-heart anesthesia.

Abstract:

Background: Percutaneous cannulation of the femoral artery in the pediatric age group can be technically challenging, especially when performed by residents in training.

Objective: We examined whether the use of real-time ultrasound guidance is superior to a palpation landmark technique for femoral artery catheterization in children undergoing heart surgery.

Methods: Patients were prospectively randomized into two groups. In the palpation group, the femoral artery was cannulated using the traditional landmark method of palpation of arterial pulse. In the ultrasound group, cannulation was guided by real-time scanning with an ultrasound probe. Ten minutes were set as time limit for the resident's trials during which the time taken for attempted cannulation (primary outcome), number of attempts, number of successful cannulations on first attempt, and success rate were compared between the two groups. Adverse events were monitored on postoperative days 1 and 3.

Results: A total of 106 patients were included in the study. The time taken for attempted femoral artery cannulation was shorter (301±234 vs. 420±248 s; difference in mean: 119; 95% confidence interval (CI) of difference: 26-212; P=0.012) and the number of attempts was lower [1 (1-10) vs. 2 (1-5); difference in median: 1, 95% CI of difference: 0.28-1.72; P=0.003] in the ultrasound group compared with the palpation group. The number of successful cannulations on first attempt was higher in the ultrasound group compared with palpation group [24/53 (45%) vs. 13/53 (25%); odds ratio (OR): 2.54, 95% CI: 1.11-5.82; P=0.025]. The number of patients who had successful cannulation was 31 of 55 (58%) in the palpation group and 40 of 53 (75%) in the ultrasound group (OR: 2.18, 95% CI: 0.95-5.01; P=0.06). None of the patients had adverse events at days 1 and 3.

Conclusions: Ultrasound-guided femoral arterial cannulation in children when performed by anesthesia residents is superior to the palpation technique based on the reduction of the time taken for attempted cannulation and the number of attempts, and improvement in first attempt success

Biography:

YoungAh Youn MD, PhD has completed her PhD in Pediatrics at 2012 from the Catholic Medical College at Seoul, Korea. As a Neonatologist, she is working at Neonatal Intensive Care Unit (NICU) in Seoul St. Mary’s Hospital. She has earned many medical experiences on the care of extremely low birth weight infants and working as an active member of Korean Neonatal Society. She also published more than 20 papers in reputed journals and has been serving as a vice chief of NICU which holds 50 intensive care beds.

Abstract:

Since corticosteroids are broadly administered, particularly on neurological outcomes, remain a concern. Hypotension and shock within the first week of life for VLBWI are the first indications of circulatory collapse that might require treatment with steroids. Postnatal administration of dexamethasone in preterm infants has been adopted with caution due to its adverse long-term outcomes. Since 2012, our unit has only used hydrocortisone as an alternative to dexamethasone in an attempt to minimize negative long-term neurological outcomes. We examined whether hydrocortisone exposure ≤ 1week in very low birth weight infants (VLBWI) was associated with poor neurodevelopmental outcomes at corrected 18 months. Of a total of 191 VLBWI, 115 (60.2%) infants were exposed to early postnatal hydrocortisone ≤ 1 week of life in our NICU of Seoul St. Mary’s Hospital, The Catholic University of Korea between December 2012 and December 2014. The morbidities were significantly higher in the group with early hydrocortisone exposure group. At corrected age of 18 months, 183 (95.8%) infants in the early hydrocortisone exposure group had significantly lower scores in all three (cognitive, language and motor) composites of Bayley Scales of Infant and Toddler Development III. The multivariable logistic regression analysis showed that periventricular leukomalacia (PVL) is consistently associated with poor long-term outcomes. Our results suggest that early hydrocortisone exposure ≤ 1week in VLBWI may not increase the risk for poor long-term outcomes compared to those not exposed. Only PVL is considered as a risk factor for poor long-term neurodevelopmental outcomes.

Biography:

Debadatta Mukhopadhyay has completed her MBBS with Honours from Medical College, Kolkata. After completing her DCH from Institute of Child Health, Kolkata she completed her MD and then MRCPCH. She has trained in Paediatric Intensive Care and is also a BPICC instructor. She has trained in Paediatric Cardiology in RN Tagore International Institute of Cardiac Sciences, Kolkata and as Fellow Paediatric Cardiology at University Hospital, Southampton, UK. Currently, she is working as Assistant Professor, Paediatrics, Medical College, Kolkata, India where she also runs Paediatric cardiology services. Her special interest are complex congenital heart diseases and fetal echo.

Abstract:

Introduction: Myocarditis is a known complication of various febrile illnesses of infective and noninfective etiology. Here we describe some atypical causes of myocarditis, their clinical profile and outcome.

Case 1: A two-year-old girl presented with low grade fever and respiratory distress for three days. Significant clinical findings were cardiomegaly, gallop rhythm and tender hepatomegaly. Diuretics and inotropes as Dobutamine and Milrinone were commenced. Echocardiography revealed gross dilatation of LV and severe systolic dysfunction (EF 31%) (Fig1a). Absolute eosinophil counts dramatically reduced to 288 after 10 days. There was also improvement of cardiac function (EF-42 %) (Fig 1b). On follow up, LV dilatation and mild to moderate dysfunction persisted.

A five month old child was brought to the A and E with incessant crying. She had tachycardia (HR 198/min, sinus rhythm), High BP (97^th centile) and cardiomegaly. She had been bitten by a scorpion two hour back. There was LV dilatation and severe cardiac systolic dysfunction (EF 33%). CPK MB and Trop T levels were raised as were the inflammatory markers like ESR and CRP. The tachycardia and hypertension settled gradually after starting oral Prazosin and intravenous Labetalol infusion. After few days the cardiac function improved and normalized on follow up with cardiac chambers resuming their normal size.

Case 2: Myocarditis is a known complication of Dengue fever in the tropical countries, characterized by LV dilatation and dysfunction. A six year old boy presented with shock with history of fever for last five days. Patient received adequate fluids and inotropes including Milrinone and Levosimendan. Later, IVIg was also given which led to marked improvement in function. There was Leukocytosis, thrombocytopenia and Dengue serology (IgM and IgG) was positive. In addition to severe systolic dysfunction (EF 33%), pericardial effusion, echocardiography also showed unusual hypertrophy of the interventricular septum (IVSd 1.3cm: >4 z scores, LVPWd = 1cm, >4 z scores) (Fig2a, b and c). On D6 PICU stay, LV Ejection fraction was found to have significantly increased to 60% (Fig 3a and 3b).

Biography:

Peter Benn completed his undergraduate degree at the University of St Andrews, Scotland, received a PhD from the University of Birmingham, England, and post-doctoral training at the University of Pennsylvania.  He also holds a DSc degree from the University of St Andrews.  For the past 25 years, he has been at the University of Connecticut Health Center and is currently Professor Emeritus in the Department of Genetics and Genome Sciences. Clinical responsibilities have included oversight of the cytogenetics and prenatal screening laboratories.  His research interests have focused on prenatal testing and diagnosis, most recently involving the introduction of non-invasive prenatal testing

Abstract:

The 22q11.2 Deletion Syndrome (22q11.2DS) Is associated with a variably expressed complex phenotype that includes cardiac abnormalities that are present in approximately 74% of cases.  A high proportion of conotruncal and right aortic arch malformations are attributable to 22q11.2DS.  Prenatal prevalence may be as high as 1 in 1000 fetuses.We developed a non-invasive prenatal screening test for 22q11.2DS and 4 other clinically significant microdeletion syndromes based on analysis of single-nucleotide polymorphisms in maternal cell-free DNA.  In 80,449 pregnancies screened for 22q11.2 deletions, we found 263 (0.39%) at high-risk for fetal deletion and 6 (1 in 13,408) maternal carriers. Pregnancy outcome information was available in 153 pregnancies at high-risk for a fetal deletion of which 24 were true-positive.  The testing had a positive predictive value of 15.7%, a false-positive-rate of 0.33%, and the estimated prevalence of 22q11.2DS was 1/1255 in the referral population.  Of the 24 true-positives, 21 showed prenatal ultrasound abnormalities including 10 with Tetralogy of Fallot, 3 unspecified cardiac malformations, 1 truncus arteriosis, 1 double outlet right ventricle and 1 VSD.  A screening enhancement has reduced the false-positive rate to 0.07% and increased the positive predicative value to 44.2%.Screen-positive pregnancies need to be confirmed by chromosome microarray, either on a prenatal sample (amniotic fluid or chorionic villus) or at birth (blood). Prenatal screening provides an opportunity to reduce adverse sequelae in 22q11.2DS through delivery at a tertiary medical center, the earliest possible management of cardiac, velopharyngeal, and other malformations, seizure management, and additional specialty consultation.