Congenital Cardiac Anesthesia Society
A Section of the the Society for Pediatric Anesthesia

{“questions”:{“p4uw2”:{“id”:”p4uw2″,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Ahmed Zaghw, MB.BCH – University of California, Davis, CA and Destiny Chau, MD – Arkansas Children\u2019s Hospital \/University of Arkansas for Medical Sciences, Little Rock, AR \r\n\r\nA 4-month-old male infant undergoes full repair for Tetralogy of Fallot. During the first 24 hours postoperatively, the patient develops a hemodynamically significant arrhythmia requiring aggressive medical intervention. What is the MOST COMMON type of arrhythmia occurring after pediatric cardiac surgery?\r\n”,”desc”:””,”hint”:””,”answers”:{“d6xty”:{“id”:”d6xty”,”image”:””,”imageId”:””,”title”:”A.\tComplete heart block”},”y5ah9″:{“id”:”y5ah9″,”image”:””,”imageId”:””,”title”:”B.\tJunctional ectopic tachycardia “,”isCorrect”:”1″},”7zeg0″:{“id”:”7zeg0″,”image”:””,”imageId”:””,”title”:”C.\tAtrial ectopic tachycardia”},”ehc31″:{“id”:”ehc31″,”image”:””,”imageId”:””,”title”:”D.\tSecond degree atrioventricular heart block”}}}},”results”:{“3z56y”:{“id”:”3z56y”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:”EXPLANATION \r\nEarly postoperative arrhythmias after congenital cardiac surgery occurs with a reported incidence of 7.5% to 48%. Commonly encountered rhythm derangements include junctional ectopic tachycardia (JET), complete heart block, and supraventricular tachycardia. In the postoperative period, arrhythmias are poorly tolerated and may lead to life-threatening hemodynamic instability due to diminished cardiac output. Arrhythmias are commonly associated with surgery in proximity to the sinus node or the AV node. They may also be related to an atriotomy or a ventriculotomy incision. Additional risk factors for early postoperative arrhythmias include electrolyte abnormalities, myocardial ischemia, myocardial inflammation, increased sympathetic tone, prolonged cardiopulmonary bypass and aortic cross-clamp duration, and the use of arrhythmogenic vasoactive medications. \r\n\r\nBradyarrhythmias diminish cardiac output due to a decrease in heart rate. Furthermore, bradyarrhythmia in combination with non-sinus rhythm may impair cardiac filling and decrease resultant stroke volume due to a disruption in atrioventricular (AV) synchrony. Tachyarrhythmias reduce cardiac output by decreasing stroke volume due to a shorter diastolic filling time, and while occurring simultaneously with non-sinus rhythm may similarly compromise cardiac output due to a loss of AV synchrony. When causing a decrease in cardiac output, both bradyarrhythmias and tachyarrhythmias result in decreased myocardial oxygen supply, thus creating an imbalance in myocardial oxygen supply and demand. Tachyarrhythmias may cause additional disparity in myocardial oxygen supply and demand because of increased myocardial oxygen demand secondary to an elevated heart rate. \r\n\r\nOverall, JET is the most commonly reported rhythm disturbance after pediatric congenital cardiac surgery. It occurs most frequently after repair of Tetralogy of Fallot, ventricular septal defects, atrioventricular septal defects, Transposition of the Great Arteries, and total anomalous pulmonary venous return. The incidence of JET after Tetralogy of Fallot repair is reported to occur in up to 20% of patients. \r\nManagement of JET includes reducing core temperature, atrial pacing, and anti-arrhythmic drugs such as amiodarone. For medically refractory cases, support with extracorporeal membrane oxygenation may be indicated. Cardioversion is generally deemed ineffective for terminating JET. \r\nSusceptibility to a particular rhythm disturbance differs by cardiac lesion and type of cardiac surgery. After orthotopic heart transplantation, atrial fibrillation is the most common arrhythmia in the early postoperative period, occurring in up to 24% of patients. Some reports suggest that the biatrial surgical method is associated with a greater risk of atrial tachyarrhythmias as compared to the bicaval technique. Of note, early cardiac graft rejection may present clinically with atrial tachyarrhythmias. \r\n \r\nComplete heart block is the most common postoperative bradyarrhythmia, with a reported incidence of 1.5% to 17.8%. Temporary pacing is an important treatment modality for the postoperative management of bradyarrhythmia with most cases recovering within 1- 2 weeks after surgery. \r\nIn conclusion, in the early postoperative period after congenital cardiac surgery, JET is the most common arrhythmia overall. Complete heart block is the most common bradyarrhythmia. The majority of arrhythmias are transient and self-limiting with adequate medical management. \r\n\r\nREFERENCES \r\nDelaney JW, Moltedo JM, Dziura JD, et al. Early postoperative arrhythmias after pediatric cardiac surgery. J Thorac Cardiovasc Surg.<\/em> 2006;131(6):1296-1300. \r\n\r\nTalwar S, Patel K, Juneja R, et al. Early postoperative arrhythmias after pediatric cardiac surgery. Asian Cardiovasc Thorac Ann.<\/em> 2015;23(7):795-801. \r\n\r\nNelson JS, Vanja S, Maul TM, et al. Early arrhythmia burden in pediatric cardiac surgery fast-track candidates: Analysis of incidence and risk factors. Progress in Pediatric Cardiology.<\/em> 2019;(52): 8-12.\r\n\r\nSahu MK, Das A, Siddharth B, et al. Arrhythmias in children in early postoperative period after cardiac surgery. World J Pediatr Congenit Heart Surg.<\/em> 2018;9(1):38-46. \r\n\r\nJoglar JA, Wan EY, Chung MK, et al. Management of arrhythmias after heart transplant: current state and considerations for future research. Circ Arrhythm Electrophysiol. <\/em> 2021;14(3):e007954. \r\n\r\nIshaque S, Akhtar S, Ladak AA, et al. Early postoperative arrhythmias after pediatric congenital heart disease surgery: a 5-year audit from a lower- to middle-income country. Acute Crit Care.<\/em> 2022;37(2):217-223. \r\n\r\nValdes SO, Kim JJ, Miller-Hance WC. Arrhythmias: diagnosis and management. In: Andropoulos DB, ed. Anesthesia for Congenital Heart Disease. 3rd ed. Hoboken, NJ; Wiley-Blackwell. 2015: 404-436.\r\n\r\n\r\n\r\n”,”redirect_url”:””}}}

{“questions”:{“u2t8o”:{“id”:”u2t8o”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Bryce Ferry, DO and Destiny F. Chau, MD – Arkansas Children\u2019s Hospital\/University of Arkansas for Medical Sciences, Little Rock, AR \r\n\r\nA 7-year-old male child presents to the emergency room with a history of syncope while playing soccer. He also has a family history of sudden death at a young age. Workup demonstrates a normal electrocardiogram at rest, a structurally normal heart on transthoracic echocardiogram, and a right heart biopsy demonstrating normal myocardium. Genetic testing reveals a mutation in the RYR2 gene. Which of the following conditions is MOST LIKELY in this patient?”,”desc”:””,”hint”:””,”answers”:{“6av5d”:{“id”:”6av5d”,”image”:””,”imageId”:””,”title”:”A. Arrhythmogenic right ventricular cardiomyopathy “},”3gk8b”:{“id”:”3gk8b”,”image”:””,”imageId”:””,”title”:”B. Long QT syndrome”},”bn5hw”:{“id”:”bn5hw”,”image”:””,”imageId”:””,”title”:”C. Catecholaminergic polymorphic ventricular tachycardia “,”isCorrect”:”1″},”8nebs”:{“id”:”8nebs”,”image”:””,”imageId”:””,”title”:”D. Brugada syndrome”}}}},”results”:{“r279t”:{“id”:”r279t”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:”EXPLANATION \r\nSyncope due to cardiac disease can be life-threatening. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrhythmogenic disorder characterized by bidirectional or polymorphic ventricular tachycardia (VT) that is triggered by an adrenergic surge secondary to exercise or emotional stress. CPVT may result from mutations in the cardiac ryanodine receptor gene (RYR2), which is inherited in an autosomal dominant pattern or the calsequestrin gene CASQ2, inherited in an autosomal recessive pattern. These genes are likely involved in calcium release from the sarcoplasmic reticulum. To date, other genes have also been implicated in CPVT. \r\nThe mean age of symptom presentation is between 7 and 12 years old with syncope being a common presenting sign. Diagnostic workup often reveals a normal resting baseline electrocardiogram (ECG) and a structurally normal heart on echocardiography. However, an exercise or pharmacologic stress test typically reveals bidirectional or polymorphic VT. In children who cannot perform a stress test, a Holter monitor or an event recorder can aid in detecting an abnormal ECG during periods of adrenergic stress. Typically, when the heart rate goes above a threshold of 100-120 beats per minute (BPM), the ECG will demonstrate premature ventricular complexes (PVCs) followed by short runs of non-sustained VT. With continued stress, the VT can degenerate into ventricular fibrillation (VF). Self-resolution of the arrhythmia can occur when the stress occurs over a short time period. \r\nThe first line treatment of CPVT is nonselective beta blockers, such as nadolol, often at high doses to achieve clinical effectiveness. It may also be clinically indicated to add flecainide or a calcium-channel blocker to beta blocker therapy. With persistent syncope or progression to cardiac arrest, the recommendation is an implantable cardioverter defibrillator. When left untreated, CPVT will result in cardiac arrest in up to 30% and recurrent syncope in up to 80% of affected patients. \r\nAnesthetic management for patients with CPVT centers on preventing periods of adrenergic stress and catecholamine surges. To this point, a patient’s emotional distress and pain should be anticipated and prevented. It is imperative that beta blockers are continued during the perioperative period. Adrenergic drugs are to be avoided and tachycardia should be promptly treated. Prevention of postoperative nausea and vomiting and adequate pain control is important. Patients with the cardiac ryanodine gene (RYR2) do not seem susceptible to malignant hyperthermia, which is linked to the RYR1 receptor. \r\nArrhythmogenic cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia\/cardiomyopathy, is a rare non-ischemic cardiomyopathy in which the right ventricular myocardium is replaced by fibrofatty tissue that may lead to arrythmias, dyspnea, and possible syncopal episodes. Arrhythmogenic cardiomyopathy can develop during childhood, but most cases arise during the third to fourth decade of life. Long QT syndrome can present similarly to CPVT with regards to emotional or physical stress but instead displays prolongation of the QT interval on the resting ECG. Brugada syndrome may also present with syncope, but often has characteristic ECG findings of variable ST segment abnormalities. This patient’s presentation, diagnostic findings, and genetic results are most consistent with catecholaminergic polymorphic ventricular tachycardia. \r\n\r\nREFERENCES \r\nPflaumer A, Davis AM. Guidelines for the diagnosis and management of catecholaminergic polymorphic ventricular tachycardia. Heart Lung Circ.<\/em> 2012;21(2):96-100. \r\n\r\nOmiya K, Mitsui K, Matsukawa T. Anesthetic management of a child with catecholaminergic polymorphic ventricular tachycardia undergoing insertion of implantable cardioverter defibrillator : a case report.JA Clin Rep.<\/em> 2020;6(1):16. \r\n\r\nStaikou C, Chondrogiannis K, Mani A. Perioperative management of hereditary arrhythmogenic syndromes. Br J Anaesth.<\/em> 2012;108(5):730-744. \r\n\r\nBrugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R. Present status of Brugada syndrome: JACC State-of-the-Art Review. J Am Coll Cardiol.<\/em> 2018;72(9):1046-1059. \r\n\r\nShah SR, Park K, Alweis R. Long QT Syndrome: A comprehensive review of the literature and current evidence. Curr Probl Cardiol.<\/em> 2019;44(3):92-106. \r\n\r\nGandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R. Clinical diagnosis, imaging, and genetics of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: JACC State-of-the-Art Review. J Am Coll Cardiol.<\/em> 2018;72(7):784-804. \r\n\r\n”,”redirect_url”:””}}}

{“questions”:{“joghu”:{“id”:”joghu”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Christopher Busack MD, Chinwe Unegbu MD, and Daniela Perez-Velasco DO \u2013 Children\u2019s National Hospital \r\n\r\nAn 11-year-old adolescent male with a history of recurrent syncope after intense emotional distress and a structurally normal heart presents for a cardioneuroablation procedure. Which of the following arrhythmias represents the STRONGEST indication for the cardioneuroablation procedure targeting epicardial parasympathetic ganglionic plexuses? “,”desc”:”EXPLANATION \r\nNeurally mediated syncope (NMS) or Neurally Mediated Reflex Syncope (NMRS) traditionally refers to syncope owing to an imbalance of sympathetic and parasympathetic tone. Enhanced parasympathetic tone due to vagal nerve stimulation can lead to dramatic slowing of the sinus node or atrioventricular nodes resulting in prolonged sinus bradycardia, junctional rhythm, pauses, sinus arrest, asystole or second or third-degree atrioventricular block. Triggering factors for NMS vary widely and include orthostatic stress, emotional stress, urination, coughing, swallowing, physical exercise, and stimulation of the carotid sinus in susceptible patients.\r\nTypically, a patient with NMS will feel warmth, nausea, and lightheadedness and may appear pale before abruptly losing consciousness. Occasionally, patients do not experience any symptoms prior to syncope. Prior to a diagnosis of NMS, other causes of syncope must be ruled out by means of history, physical examination and appropriate tests. Frequently, the cause of syncope is identified during initial clinical evaluation and no further testing is needed. When the cause of syncope is not clear, a stepwise approach is required for diagnosis. The differential diagnosis for syncope is broad and includes structural heart disease, neurologic disease, cardiac disease, and arrhythmias such as life-threatening ventricular tachycardia, rapid supraventricular tachycardia and prolonged asystole. Prolonged asystole is the most common arrythmia (> 50%) leading to syncope in patients without significant structural heart disease and a normal ECG. If an arrhythmia is suspected, a 24-hour Holter or long-term event monitor can be used to establish the diagnosis. Invasive electrophysiology studies can be performed to distinguish whether syncope is caused by an arrhythmia such as ventricular tachycardia, sinus node dysfunction or intracardiac conduction delay. Often, syncope is due to a mixed pathology. \r\nIn the absence of structural heart disease and with a suspicion of NMS, a head-up-tilt-table (HUTT) test is performed to confirm the diagnosis. This is a provocative test with an orthostatic challenge to determine a patient\u2019s susceptibility to syncope. The test is considered positive if symptoms are reproduced along with objective evidence of a sudden decrease in blood pressure or decrease in heart rate. \r\n\r\nMedical therapy for NMS consists of beta blockers, alpha agonists, selective serotonin reuptake inhibitors, fludrocortisone, and anticholinergics. Pacemaker therapy can be helpful for patients refractory to medical therapy. According to the American College of Cardiology\/American Heart Association, minimal carotid sinus pressure that induces asystole greater than three seconds in the absence of medications that depress sinoatrial or atrioventricular (AV) node conduction is considered a class I indication for pacemaker placement when the result is recurrent syncope. NMS with severe bradycardia reproduced during HUT testing is a class IIb indication for pacemaker insertion. The North American Vasovagal Pacemaker study published in 1993, which involved 54 patients with frequent syncopal spells and positive HUT tests, demonstrated that recurrence of syncope was significantly reduced in patients with pacemakers (22%) versus those without pacemakers (70%). Though pacemaker therapy is used in the treatment of NMS, the decision to implant a pacemaker is difficult and challenging in young patients with structurally normal hearts. \r\n\r\nA novel therapy for NMS is cardioneuroablation (CNA) and was first described by Pachon in 2005 in 21 patients with a mean age of 48 years and diagnoses varying from NMS, functional high grade atrioventricular block and sinus node dysfunction. The CNA procedure is performed percutaneously and is based on radiofrequency ablation. The therapy targets vagal efferent postganglionic neurons innervating the sinoatrial (SA) or atrioventricular (AV) node. The postganglionic neurons are primarily located in discrete epicardial structures known as fat pads. Long-term vagal denervation of the atria, SA and AV nodes can be achieved by radiofrequency catheter ablation of these fat pads. \r\n\r\nIn 2017, Aksu and colleagues conducted a literature review to assess efficacy of CNA for treatment of NMS, which included five observational studies and five case reports. The review demonstrated reduced vagal tone lasting for at least 12 months after the procedure with improved tolerance of repeated head-up tilt testing. An additional study by Pachon et al published in 2011 demonstrated a significant decrease in atropine test positivity following CNA. However, in long-term follow up, patients demonstrated increased atropine test positivity suggesting either partial reinnervation and\/or partial ablation. \r\n\r\nAlthough initial reports of CNA have been positive, no formal guidelines exist regarding specific indications or contraindications for the procedure. The 2018 European Society of Cardiology guidelines do acknowledge the novel procedure as a possible treatment modality for NMS, but state that current evidence is insufficient to confirm the efficacy of vagal ganglia ablation. A 2022 prospective, randomized control trial by Piotrowski and colleagues included patients with documented symptomatic cardioinhibitory or mixed vasovagal syncope and positive atropine test. Patients who underwent CNA had less frequent syncope and better quality of life at 24-month follow-up. \r\n\r\nReports of complications from CNA have been sparse. A case report by Kumthekar et al published in 2020 describes a pediatric patient that developed paroxysmal atrial fibrillation after CNA. The arrhythmia was well controlled with medical therapy, and subsequently resolved. A study of long-term outcomes after CNA, published by Sun et al in 2016, noted one patient with inappropriate but transient sinus tachycardia. \r\n\r\nChoice A is the correct answer as high-grade third-degree AV block in a structurally normal heart is more likely to be related to NMS and would be a strong indication for CNA. Choices B and C are not typical arrhythmias related to NMS but rather cardiac disease. Choice D, sinus arrhythmia, is not correct as it is a commonly encountered variation of normal sinus rhythm. \r\n\r\n\r\nREFERENCES \r\n1.\tPachon JC, Pachon EI, Pachon JC, et al. \”Cardioneuroablation\”–new treatment for neurocardiogenic syncope, functional AV block and sinus dysfunction using catheter RF-ablation. Europace.<\/em> 2005;7(1):1-13. doi: 10.1016\/j.eupc.2004.10.003 \r\n\r\n2.\tPachon JC, Pachon EI, Cunha Pachon MZ, et. al. Catheter ablation of severe neurally meditated reflex (neurocardiogenic or vasovagal) syncope: cardioneuroablation long-term results. Europace.<\/em> 2011;13:1231\u20131242. doi:10.1093\/europace\/eur163\r\n\r\n3.\tZaqqa M, Massumi A. Neurally mediated syncope. Tex Heart Inst J.<\/em> 2000;27(3):268-272. \r\n\r\n4.\tKumthekar RN, Sumihara K, Moak JP. Pediatric radiofrequency ablation of cardiac parasympathetic ganglia to achieve vagal denervation. HeartRhythm Case Rep.<\/em> 2020;6(11):879-883. doi: 10.1016\/j.hrcr.2020.09.004 \r\n\r\n5.\tAksu T, G\u00fcler TE, Bozyel S, et. al. Cardioneuroablation in the treatment of neurally mediated reflex syncope: a review of the current literature. Turk Kardiyol Dern Ars.<\/em> 2017;45(1):33-41. doi: 10.5543\/tkda.2016.55250. \r\n\r\n6.\tHussain S, Raza Z, Kumar TVV, et al. Diagnosing Neurally Mediated Syncope Using Classification Techniques. J Clin Med.<\/em> 2021;10(21):5016. doi: 10.3390\/jcm10215016 \r\n\r\n7.\tTask Force for the Diagnosis and Management of Syncope; European Society of Cardiology (ESC); European Heart Rhythm Association (EHRA); Heart Failure Association (HFA); Heart Rhythm Society (HRS), Moya A, Sutton R, Ammirati F, et. al. Guidelines for the diagnosis and management of syncope (version 2009). Eur Heart J.<\/em> 2009;30(21):2631-2671. doi: 10.1093\/eurheartj\/ehp298 \r\n\r\n8.\tMoya A, Brignole M, Menozzi C, et al; International Study on Syncope of Uncertain Etiology (ISSUE) Investigators. Mechanism of syncope in patients with isolated syncope and in patients with tilt-positive syncope. Circulation.<\/em> 2001;104(11):1261-1267. doi: 10.1161\/hc3601.095708 \r\n\r\n9.\tGregoratos G, Cheitlin M, Conill A, et al. ACC\/AHA Guidelines for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices: Executive Summary\u2014a report of the American College of Cardiology\/American Heart Association Task Force on Practice Guidelines (Committee on Pacemaker Implantation). Circulation.<\/em>1998;97:1325-1335. doi:10.1161\/01.cir.97.13.1325 \r\n\r\n10.\tConnolly SJ, Sheldon R, Roberts RS, et al. The North American Vasovagal Pacemaker Study (VPS). A randomized trial of permanent cardiac pacing for the prevention of vasovagal syncope. J Am Coll Cardiol. <\/em>1999;33:16-20. doi:10.1016\/s0735-1097(98)00549-x \r\n\r\n11.\tSun W, Zheng L, Qiao Y, et al. Catheter Ablation as a Treatment for Vasovagal Syncope: Long-Term Outcome of Endocardial Autonomic Modification of the Left Atrium. J Am Heart Assoc. <\/em> 2016;5(7):e003471.doi:10.1161\/JAHA.116.003471 \r\n\r\n12.\tBrignole M, Moya A, de Lange FJ, et al; ESC Scientific Document Group. 2018 ESC Guidelines for the diagnosis and management of syncope. Eur Heart J. 2018 Jun 1;39(21):1883-1948. doi: 10.1093\/eurheartj\/ehy037. \r\n\r\n13.\tPiotrowski R, Baran J, Sikorska A, Krynski T, Kulakowski P. Cardioneuroablation for Reflex Syncope: Efficacy and Effects on Autonomic Cardiac Regulation-A Prospective Randomized Trial. JACC Clin Electrophysiol. 2022 Aug 28:S2405-500X(22)00680-6. doi: 10.1016\/j.jacep.2022.08.011.\r\n”,”hint”:””,”answers”:{“lpdtd”:{“id”:”lpdtd”,”image”:””,”imageId”:””,”title”:”A. Third degree atrioventricular block “,”isCorrect”:”1″},”9gaf7″:{“id”:”9gaf7″,”image”:””,”imageId”:””,”title”:”B. Non-sustained ventricular tachycardia”},”melsv”:{“id”:”melsv”,”image”:””,”imageId”:””,”title”:”C. Paroxysmal supraventricular tachycardia”},”uxqjt”:{“id”:”uxqjt”,”image”:””,”imageId”:””,”title”:”D. Sinus arrhythmia”}}}}}

{“questions”:{“kiytl”:{“id”:”kiytl”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Daniela Perez-Velasco DO, Chinwe Unegbu MD, and Christopher Busack MD \u2013 Children\u2019s National Hospital \r\n\r\nAn 8-year-old male child with a history of Noonan syndrome and mild supravalvar pulmonary stenosis presents for dental rehabilitation surgery. Which of the following is the MOST LIKELY hematologic abnormality seen in patients with Noonan syndrome?”,”desc”:””,”hint”:””,”answers”:{“teocu”:{“id”:”teocu”,”image”:””,”imageId”:””,”title”:”A. Anemia”},”o8phx”:{“id”:”o8phx”,”image”:””,”imageId”:””,”title”:”B. Polycythemia”},”uafba”:{“id”:”uafba”,”image”:””,”imageId”:””,”title”:”C. Thrombocytopenia”,”isCorrect”:”1″},”a5nrm”:{“id”:”a5nrm”,”image”:””,”imageId”:””,”title”:”D. Neutropenia”}}}},”results”:{“391u2”:{“id”:”391u2″,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:”Noonan syndrome (NS) was first described in 1963 and has an estimated prevalence of 1 in 1000 to 2500 live births. Initially considered to be a type of \u201cmale Turner syndrome\u201d, Dr. Jaqueline Noonan then described NS as clinically and etiologically unique from Turner syndrome and occurring in both males and females. Patients with NS have a normal karyotype, and most cases are likely secondary to de novo mutations, which are inherited in an autosomal dominant manner. Patients with NS demonstrate a wide range of phenotypic features including short stature, hypertelorism, ptosis, undescended testes, skeletal malformations, mild cognitive impairment, and congenital cardiac malformations. The incidence of congenital cardiac defects in NS is approximately 60%, of which the most common is pulmonary valve stenosis (50%). \r\n\r\nBleeding disorders are common in patients with NS and represent a serious, yet poorly defined, complication of NS. In her first report, Dr. Noonan described a NS patient with persistent thrombocytopenia. The estimated frequency of bleeding diatheses in NS is between 20-65%. There are reports in the literature of cases of decreased coagulation factor levels (factors II and XI), von Willebrand disease (vWD), thrombocytopenia, and abnormal platelet function. A study published in 1997 by Singer et al. described findings of a literature review of bleeding disorders in NS citing multiple types of hemostatic abnormalities with a wide range of clinical presentations. The most frequently described hemostatic abnormality was low Factor XI levels but thrombocytopenia and abnormal platelet function were also common. NS patients with hemostatic abnormalities may present with easy bruising and prolonged bleeding. Since there is no consistent pattern of hemostatic defects in this patient population, a definitive coagulation abnormality may not be identified in some NS patients. One potential factor leading to increased bleeding tendency may be shear stress due to pulmonary valve stenosis, resulting in reduced quality of functional von Willebrand factor. \r\n\r\nThe increased likelihood of hemostatic abnormalities in NS patients has important clinical implications. Anesthesiologists need to be aware of the increased risk of bleeding since NS patients often present for cardiac catheterization, open heart surgery, and noncardiac surgical procedures. Given the increased risk of perioperative bleeding, it may be advisable that NS patients have a full hematology workup and screening prior to invasive procedures. Evaluation should include a careful history of bleeding tendencies (i.e. bruising, epistaxis), a complete blood count, and coagulation profile. If any of these tests yield abnormal results, it is warranted to consider a hematology consultation for a more extensive evaluation. A hematology evaluation may include individual factor levels, tests of platelet function, and perhaps a bone marrow biopsy. Specific recommendations from a hematologist regarding aspirin use is advisable in NS patients given the risk of baseline platelet abnormalities. \r\n\r\nAnswer C is correct because patients with NS have a high incidence of hemostatic abnormalities including thrombocytopenia. Answers A,B, and D are not correct because these are not typical findings in NS. \r\n\r\nREFERENCES \r\n1.\tNoonan J.A., Ehmke D.A.: Associated noncardiac malformations in children with congenital heart disease. J Pediatr.<\/em> 1963; 63: pp. 468-470. \r\n2.\tNoonan JA. Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease. American journal of diseases of children (1960). <\/em> 1968;116(4):373-380. doi:10.1001\/archpedi.1968.02100020377005 \r\n3.\tAllanson JE, Bohring A, D\u00f6rr HG, et al. The face of Noonan syndrome: Does phenotype predict genotype. Am J Med Genet A. <\/em>2010;152A(8):1960-1966. doi:10.1002\/ajmg.a.33518 \r\n4.\tDerbent M, \u00d6ncel Y, Tokel K, et al. Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. Am J Med Genet A. <\/em>2010;152A(11):2768-2774. doi:10.1002\/ajmg.a.33713 \r\n5.\tSinger ST, Hurst D, Addiego JE. Bleeding disorders in Noonan syndrome: Three case reports and review of the literature. Journal of pediatric hematology\/oncology. <\/em>1997;19(2):130-134. doi:10.1097\/00043426-199703000-00006 \r\n6.\tMorice A, Harroche A, Cairet P, Khonsari RH. Preoperative Detailed Coagulation Tests Are Required in Patients With Noonan Syndrome. J Oral Maxillofac Surg. <\/em>2018;76(7):1553-1558. doi:10.1016\/j.joms.2017.12.012 \r\n7.\tWitt DR, McGillivray BC, Allanson JE, et al. Bleeding diathesis in Noonan syndrome: a common association. Am J Med Genet.<\/em> 1988;31(2):305-317. doi:10.1002\/ajmg.1320310208. \r\n8.\tWiegand G, Hofbeck M, Zenker M, Budde U, Rauch R. Bleeding diathesis in Noonan syndrome: is acquired von Willebrand syndrome the clue?. Thromb Res.<\/em> 2012;130(5):e251-e254. doi:10.1016\/j.thromres.2012.08.314\r\n\r\n”,”redirect_url”:””}}}

{“questions”:{“79e15”:{“id”:”79e15″,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Author: Stephanie Grant, MD \u2013 Emory University and Children\u2019s Healthcare of Atlanta \r\n\r\nA three-week-old female with supravalvular aortic stenosis, peripheral pulmonary artery stenosis, and dysmorphic facial features consistent with an elfin-like face is being evaluated prior to supravalvular aortic stenosis repair. A transthoracic echocardiograph demonstrates narrowing of the aorta at the sinotubular junction with a supravalvular aortic gradient of 90 mmHg and normal coronary arteries. Results of genetic testing are pending. Which of the following electrolyte abnormalities would you MOST LIKELY expect on this patient\u2019s pre-operative labs?”,”desc”:””,”hint”:””,”answers”:{“zmjvj”:{“id”:”zmjvj”,”image”:””,”imageId”:””,”title”:”A. Hypoglycemia “},”wh6hi”:{“id”:”wh6hi”,”image”:””,”imageId”:””,”title”:”B. Hypocalcemia”},”e1ym0″:{“id”:”e1ym0″,”image”:””,”imageId”:””,”title”:”C. Hypercalcemia”,”isCorrect”:”1″},”clo8h”:{“id”:”clo8h”,”image”:””,”imageId”:””,”title”:”D. Hypernatremia”}}}},”results”:{“heel0”:{“id”:”heel0″,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:””,”redirect_url”:”https:\/\/ccasociety.org\/wp-content\/uploads\/2022\/11\/CCAS-QOW-Posted-11-17-2022.pdf”}}}