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

{“questions”:{“gvdza”:{“id”:”gvdza”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Author: Michael A. Evans, MD \u2013 Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern Feinberg School of Medicine \r\n\r\nA 5-year-old male child with a history of Mucopolysaccharidosis Type I-H (Hurler Syndrome) presents for an elective MRI. Upon exam, the anesthesiologist auscultates a previously undiagnosed murmur. A preprocedural transthoracic echocardiogram is ordered prior to the MRI. Which lesion is MOST LIKELY to be found on echocardiogram in a patient with Mucopolysaccharidosis Type I-H?\r\n”,”desc”:””,”hint”:””,”answers”:{“zk19v”:{“id”:”zk19v”,”image”:””,”imageId”:””,”title”:”A. Atrial Septal Defect”},”1omj9″:{“id”:”1omj9″,”image”:””,”imageId”:””,”title”:”B. Ventricular Septal Defect”},”ji188″:{“id”:”ji188″,”image”:””,”imageId”:””,”title”:”C. Patent Ductus Arteriosus”},”66ngm”:{“id”:”66ngm”,”image”:””,”imageId”:””,”title”:”D. Mitral regurgitation”,”isCorrect”:”1″}}}},”results”:{“64t9g”:{“id”:”64t9g”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:””,”redirect_url”:”https:\/\/ccasociety.org\/wp-content\/uploads\/2022\/01\/CCAS-Question-of-the-Week-January-6-2022.pdf”}}}

{“questions”:{“2gab8”:{“id”:”2gab8″,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Pascual Sanabria, MD –Hospital Universitario Infantil La Paz. Madrid, Espa\u00f1a and Destiny F Chau, MD –Arkansas Children\u2019s Hospital\/University of Arkansas for Medical Sciences, Little Rock, AR \r\n\r\nThis Question of the Week was written by Dr. Sanabria from Madrid, Spain and Dr. Chau. English translation by Destiny Chau, MD. \r\n\r\nUn reci\u00e9n nacido de 2,9 kg con estenosis de la v\u00e1lvula pulmonar (EP) fue sometido a cateterismo card\u00edaco y dilataci\u00f3n con bal\u00f3n de la v\u00e1lvula pulmonar. El paciente estaba recibiendo una infusi\u00f3n de prostaglandina E1 (PGE1). El ecocardiograma previo al cateterismo mostr\u00f3 EP grave, insuficiencia valvular tric\u00faspide (IT) grave, shunt bidireccional tanto en el ductus arterioso persistente (DAP) como en el foramen oval persistente (FOP). La valvuloplastia pulmonar con bal\u00f3n se consider\u00f3 satisfactoria y se detuvo la PGE1. En el posoperatorio, el paciente mostr\u00f3 signos de hipoperfusi\u00f3n sist\u00e9mica con desarrollo de acidosis metab\u00f3lica grave. El ecocardiograma repetido mostr\u00f3 insuficiencia pulmonar severa, IT severa, shunt de derecha a izquierda en el FOP y de izquierda a derecha en el DAP. \u00bfQu\u00e9 intervenci\u00f3n considera como la M\u00c1S adecuada para estabilizar y mejorar la hemodin\u00e1mica de este paciente?\r\n\r\n\r\nA 2.9 kg neonate with pulmonary valve stenosis (PS) underwent cardiac catheterization and balloon dilation of the pulmonary valve. The patient was on a prostaglandin E1(PGE1) infusion. Pre-catheterization echocardiogram showed severe PS, severe tricuspid valve regurgitation (TR), bi-directional shunting at both the patent ductus arteriosus (PDA) and patent foramen ovale (PFO) levels. The pulmonary balloon valvuloplasty was deemed successful and the PGE1 was stopped. Postoperatively, the patient showed signs of hypoperfusion with development of severe metabolic acidosis. Repeat echocardiogram showed severe pulmonary insufficiency (PI), severe TR, right to left shunting at the PFO and left to right shunting at the PDA. What next intervention would be the MOST effective to stabilize and improve this patient\u2019s hemodynamics?\r\n\r\n”,”desc”:””,”hint”:””,”answers”:{“gez7j”:{“id”:”gez7j”,”image”:””,”imageId”:””,”title”:”A)\tReinicio del PGE1 \/ Restarting the PGE1″},”v0dvh”:{“id”:”v0dvh”,”image”:””,”imageId”:””,”title”:”B)\tOclusi\u00f3n de DAP \/ PDA occlusion “,”isCorrect”:”1″},”vad98″:{“id”:”vad98″,”image”:””,”imageId”:””,”title”:”C)\tSeptostom\u00eda auricular con bal\u00f3n \/ Balloon atrial septostomy “},”f1za0”:{“id”:”f1za0″,”image”:””,”imageId”:””,”title”:”D)\tAdministraci\u00f3n de paracetamol \/ Acetaminophen administration”}}}},”results”:{“belhq”:{“id”:”belhq”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:”Explicaci\u00f3n: \r\n\r\nEste paciente desarroll\u00f3 un shunt circular despu\u00e9s del inicio de un insuficiencia pulmonar (IP) grave por la valvuloplastia pulmonar con bal\u00f3n. Un shunt circular (CS) ocurre cuando la sangre fluye a trav\u00e9s de cada una de las cuatro c\u00e1maras card\u00edacas y regresa a su c\u00e1mara original sin pasar por un lecho capilar. La implicaci\u00f3n hemodin\u00e1mica es que una gran parte del gasto cardiaco ventricular recircula de forma ineficaz entre ambos ventr\u00edculos sin contribuir a la perfusi\u00f3n sist\u00e9mica, lo que da lugar a un s\u00edndrome de bajo gasto card\u00edaco sist\u00e9mico y riesgo de fallo multiorg\u00e1nico. La sangre recirculada tambi\u00e9n causa una sobrecarga de volumen ventricular e insuficiencia card\u00edaca. En este caso, el shunt circular se gener\u00f3 en presencia de insuficiencia pulmonar grave que permiti\u00f3 que la sangre fluyera hacia atr\u00e1s volviendo al ventr\u00edculo derecho, retrocediendo por la v\u00e1lvula tric\u00faspide incompetente hacia la aur\u00edcula derecha, pasando a trav\u00e9s del FOP al coraz\u00f3n izquierdo, luego bombeada hacia la aorta por donde ingresa al DAP a la arteria pulmonar y, en lugar de proseguir por la circulaci\u00f3n pulmonar, vuelve de regreso a trav\u00e9s de la v\u00e1lvula pulmonar incompetente, al ventr\u00edculo derecho. Otras combinaciones anat\u00f3micas descritas de anomal\u00edas card\u00edacas que predisponen a shunt circulares incluyen: \r\n1. Defecto del tabique ventricular, EP grave, IT y FOP \r\n2. Atresia pulmonar con tabique ventricular intacto, posvalvotom\u00eda IP, IT y FOP \r\n3. Anomal\u00eda de Ebstein (IT), IP, DAP y FOP \r\n\r\nLa interrupci\u00f3n del shunt circular es esencial para revertir el bajo gasto cardiaco. En este caso cl\u00ednico, la oclusi\u00f3n ductal mediante el cierre con dispositivo transcat\u00e9ter o la ligadura quir\u00fargica, o el cierre espont\u00e1neo final despu\u00e9s de la interrupci\u00f3n de la PGE1 romper\u00eda el shunt circular, aumentar\u00eda la perfusi\u00f3n sist\u00e9mica y disminuir\u00eda la insuficiencia card\u00edaca. En el contexto de un flujo pulmonar sangu\u00edneo adecuado a trav\u00e9s de la arteria pulmonar principal, se restablecer\u00eda el gasto card\u00edaco sist\u00e9mico y se restablecer\u00eda la estabilidad hemodin\u00e1mica. Otros m\u00e9todos de tratamiento quir\u00fargico descritos para la reducci\u00f3n del shunt circular incluye el banding de DAP o banding de arterias pulmonares. \r\n\r\nLa combinaci\u00f3n de lesiones card\u00edacas cong\u00e9nitas coloc\u00f3 a este beb\u00e9 a riesgo de un shunt circular despu\u00e9s de la valvuloplastia pulmonar. La anticipaci\u00f3n y el seguimiento cercano por los primeros signos de hipoperfusi\u00f3n sist\u00e9mica posoperatorio son fundamentales para una intervenci\u00f3n oportuna. La monitorizaci\u00f3n por espectroscopia de infrarrojo cercano (NIRS) parece un indicador \u00fatil para detectar cambios tempranos en la tendencia de la perfusi\u00f3n sist\u00e9mica relacionados con la direccionalidad del flujo sangu\u00ednea a trav\u00e9s del DAP; la disminuci\u00f3n de los valores de NIRS despu\u00e9s de la valvuloplastia puede reflejar un shunt importante de izquierda a derecha y un robo de perfusi\u00f3n sist\u00e9mico, mientras que aumentos en los valores de NIRS despu\u00e9s de la ligadura del DAP ayudan a determinar la efectividad de la intervenci\u00f3n de un modo inmediato. \r\n\r\nLas otras opciones de respuesta del cuestionario, sobre reiniciar la PGE1 o realizar una septostom\u00eda auricular con bal\u00f3n, aumentar\u00edan y empeorar\u00edan el shunt circular. Aunque se ha descrito que la administraci\u00f3n de paracetamol promueve el cierre del DAP en reci\u00e9n nacidos prematuros, su efectividad, confiabilidad y tiempo oportuno en el cierre ductal son altamente cuestionables en este escenario urgente.\r\n\r\n\r\n\r\nExplanation: \r\n\r\nThis patient developed a circular shunt after the onset of severe pulmonary insufficiency (PI) from the balloon pulmonary valvuloplasty. A circular shunt (CS) occurs when blood flows through each of the four cardiac chambers and returns to its original chamber without going through a capillary bed. The hemodynamic implication is that a large portion of the ventricular output recirculates ineffectively between both ventricles without contributing to systemic perfusion resulting in low systemic cardiac output and leading to the risk of multiorgan failure. The recirculated blood also causes ventricular volume load and high output cardiac failure. In this case, the circular shunt was generated in the presence of severe pulmonary insufficiency which allowed blood to flow backwards into the right ventricle. The blood flow was then regurgitated through the incompetent tricuspid valve into the right atrium and then passed through the patent foramen ovale (PFO) into the left heart. It was then pumped into the aorta where the blood flow entered the patent ductus arteriosus (PDA) into the pulmonary artery. Instead of going through the lungs, the blood flows retrograde through the incompetent pulmonary valve back into the right ventricle. Other described anatomic combinations of cardiac anomalies predisposing to circular shunts include: \r\n1.\tVentricular septal defect, severe PS, TR, and PFO \r\n2.\tPulmonary atresia with intact ventricular septum, post-valvotomy PI, TR, and PFO \r\n3.\tEbstein\u2019s anomaly (TR), PI, PDA and PFO \r\nInterruption of the circular shunt is essential for restoration of hemodynamic stability. In this case scenario, ductal occlusion via transcatheter device closure, surgical ligation, or eventual spontaneous closure after PGE1 discontinuation would break the circular shunt leading to increased systemic perfusion and decreased high output cardiac failure. In the setting of adequate forward pulmonary blood flow through the main pulmonary artery, systemic cardiac output would be restored and hemodynamic stability re-established. Other described surgical approaches for reducing the circular shunt include PDA banding or pulmonary artery banding. \r\n\r\nThe combination of congenital cardiac lesions placed this infant at risk for a circular shunt after the pulmonary valvuloplasty. Anticipation and close monitoring for early signs of postprocedural systemic hypoperfusion is critical for timely intervention. Near infrared spectroscopy (NIRS) monitoring has been reported as a useful indicator for detecting and trending early systemic perfusion changes related to blood shunt directionality through the PDA. Thus, decreasing NIRS values after the valvuloplasty may reflect significant left to right shunting through the PDA and systemic \u201csteal\u201d while increases in NIRS values after ligation of the PDA aids in determining the intervention\u2019s effectiveness. \r\n\r\nThe other answer choices of restarting the PGE1 or performing balloon atrial septostomy would only worsen the circular shunt. Although acetaminophen administration has been described to promote closure of PDA in premature infants, its effectiveness, reliability and timeliness on ductal closure are highly questionable in this emergent case scenario. \r\n\r\n\r\nReferences: \r\n\r\nSchmitz ML, Ullah S, Dasgupta R, Thompson LL. Anesthesia for right-sided obstructive lesions. In: Andropoulos D, Stayer S, Mossad E, Miller-Hance W, eds. Anesthesia for Congenital Heart Disease<\/em>. 3rd Edition. Hoboken, New Jersey: John Wiley & Sons, Inc.; 2015: 522. \r\n\r\nElzein C, Subramanian S, Ilbawi M. Surgical management of neonatal Ebstein’s anomaly associated with circular shunt. World J Pediatr Congenit Heart Surg<\/em>. 2019; 10(1): 116-120. \r\n\r\nHasegawa M, Iwai S, Yamauchi S, et al. Bilateral pulmonary artery banding in Ebstein’s anomaly with circular shunting. Ann Thorac Surg<\/em>. 2019; 107(5): e317-e319. \r\n\r\nBautista-Rodriguez C, Rodriguez-Fanjul J, Moreno Hernando J, Mayol J, Caffarena-Calvar JM. Patent ductus arteriosus banding for circular shunting after pulmonary valvuloplasty. World J Pediatr Congenit Heart Surg<\/em>. 2017; 8(5): 643-645. \r\n\r\nChock VY, Rose LA, Mante JV, Punn R. Near-infrared spectroscopy for detection of a significant patent ductus arteriosus. Pediatr Res<\/em>. 2016; 80(5): 675-680. \r\n\r\nChock VY, Ramamoorthy C, Van Meurs KP. Cerebral oxygenation during different treatment strategies for a patent ductus arteriosus. Neonatology<\/em>. 2011; 100(3): 233-240. \r\n \r\nOhlsson A, Shah PS. Paracetamol (acetaminophen) for patent ductus arteriosus in preterm or low birth weight infants. Cochrane Database Syst Rev<\/em>. 2018; 4(4): CD010061. \r\n\r\n\r\n\r\n\r\n\r\n”,”redirect_url”:””}}}

{“questions”:{“tf7ir”:{“id”:”tf7ir”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Jorge Guerrero, MD and Destiny F Chau, MD Arkansas Children\u2019s Hospital\/University of Arkansas for Medical Sciences, Little Rock, AR \r\n\r\nA five-year-old female child with a history of Williams-Beuren syndrome and mild supravalvar pulmonary stenosis is undergoing a diagnostic colonoscopy for abdominal pain. After an uneventful intraprocedural course with stable hemodynamics, ondansetron and acetaminophen are administered prior to emergence of anesthesia. Within a few minutes the electrocardiogram (ECG) shows torsades de pointes. The MOST LIKELY trigger for this arrhythmia is:\r\n”,”desc”:””,”hint”:””,”answers”:{“xrsh7”:{“id”:”xrsh7″,”image”:””,”imageId”:””,”title”:”A)\tLight anesthesia”},”v606t”:{“id”:”v606t”,”image”:””,”imageId”:””,”title”:”B)\tVenous air embolism”},”z1s56″:{“id”:”z1s56″,”image”:””,”imageId”:””,”title”:”C)\tOndansetron administration”,”isCorrect”:”1″},”h6mju”:{“id”:”h6mju”,”image”:””,”imageId”:””,”title”:”D)\tAcetaminophen administration”}}}},”results”:{“bwn36”:{“id”:”bwn36″,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:”Williams or Williams-Beuren syndrome (WBS) is a genetic disease that affects 1: 8000-10,000 individuals. The syndrome has been linked to deletions of 1.5 to 1.8 base pairs on chromosome 7q11.25, which encompass the elastin gene (ELN). The cardiovascular findings associated with WBS are due to the lack of elastin production as a consequence of this gene deletion. Eighty percent of patients with WBS have cardiovascular manifestations, which include supravalvular aortic stenosis and pulmonary artery stenosis – typically the branch pulmonary arteries. Forty-five percent of patients with supravalvular aortic stenosis will also have coronary anomalies. Any artery may be involved, including the mid- thoracic aorta, renal arteries, carotid arteries, and cerebral arteries. \r\n\r\nUp to 14% of WBS patients will have a prolonged QTc\/JTc interval. This may be a contributing factor to a higher-than-normal incidence of adverse cardiac events related to WBS. Many patients with WBS exhibit increased prolongation of the QTc during periods of increased heart rate, which also occurs in patients with microvascular cardiac disease. The occurrence of ectopic beats may also suggest ischemia. However, a concurrent channelopathy due to the genetic deletion cannot be excluded. In a retrospective study by McCarty et al, patients with supravalvular aortic stenosis but without WBS were compared to patients with supravalvular aortic stenosis and WBS. The results demonstrated that the QTc was significantly prolonged in patients with WBS independent of the degree of myocardial hypertrophy as compared to patients without WBS. Additionally, patients with WBS whom underwent repair of obstructive outflow lesions did not show a regression of the prolonged QTc, which presumably would resolve in patients with supravalvular aortic obstruction without WBS. Further studies are needed to elucidate the etiology of the prolonged QTc (ie the role of channelopathies, microvascular abnormalities and related ischemia, or a combination of both). In general, a prolonged QTc can be an isolated finding or it can occur in the setting of cardiac structural lesions. A prolonged QTc can lead to torsades de pointes and may degrade to ventricular fibrillation. It is prudent to avoid drugs that prolong QTc especially if QTc prolongation is already present. Many medications used for anesthesia and sedation, including the potent inhaled anesthetics, can prolong QTc. \r\n\r\n\r\nOther features associated with WBS include a \u201ccocktail-like\u201d personality, high degree of anxiety, attention deficit hyperactivity disorder, and aversion to loud noises. Patients with WBS have intelligence quotients around 50-60. Facial characteristics include a broad forehead, stellate iris, wide nasal bridge, upward pointing nose, large mouth with thick lips, periorbital thickness, and pointed chin. Patients with WBS may exhibit hypercalcemia early in life as well as subclinical hypothyroidism and may develop glucose intolerance progressing to diabetes mellitus in adulthood. They also have a propensity for colic as infants, chronic otitis media, poor dentition and scoliosis. The underlying pathophysiology of WBS predisposes these patients to require more medical attention and undergo more procedures than the general population. Additionally, they are 25-100 times more likely to have an adverse cardiovascular event than the general population. A great majority of events occur when receiving sedation or general anesthesia. Factors that increase the risk of adverse cardiac events are greater severity of supravalvular aortic stenosis (gradient >40 mm Hg), bilateral ventricular outflow obstructive lesions, coronary artery involvement, and a prolonged QTc of 460 ms or greater. Many of the adverse cardiovascular events seem to be related to imbalances in the myocardial oxygen supply and demand related to the vasodilatory and tachycardic effects of anesthetic agents. However, not all of the adverse cardiovascular events can be attributed to ischemia as the sole cause. \r\n\r\n\r\nOf the choices given in this scenario, ondansetron is the most likely trigger for torsades de pointes. It is known to prolong the QTc. In the setting of an uneventful intraoperative course and stable hemodynamics, the timing of ondansetron administration and subsequent presentation of torsades de pointes suggests that this patient with WBS had an abnormal prolonged QTc which was worsened by the ondansetron. Light anesthesia, venous air embolism, and acetaminophen are unlikely causes for torsades de pointes. \r\n\r\n\r\nReferences: \r\n\r\n\r\nStaudt GE, Eagle SS. Anesthetic considerations for patients with Williams syndrome. J Cardiothorac Vasc Anesth<\/em>. 2021; 35(1): 176-186. \r\n\r\n\r\nCollins RT, Collins MG, Schmitz ML, Hamrick JT. Peri-procedural risk stratification and management of patients with Williams syndrome. Congenit Heart Dis<\/em>. 2017; 12(2): 133-142. \r\n\r\n\r\nPober BR. Williams-Beuren syndrome. N Engl J Med<\/em>. 2010; 362(3): 239-252. \r\n\r\n\r\nMcCarty HM, Tang X, Swearingen CJ, Collins RT 2nd. Comparison of electrocardiographic QTc duration in patients with supravalvar aortic stenosis with versus without Williams syndrome. Am J Cardiol<\/em>. 2013; 111(10): 1501-1504. \r\n\r\n\r\nCollins RT 2nd, Aziz PF, Swearingen CJ, Kaplan PB. Relation of ventricular ectopic complexes to QTc interval on ambulatory electrocardiograms in Williams syndrome. Am J Cardiol<\/em>. 2012; 109(11): 1671-1676. \r\n\r\n\r\nCollins RT 2nd, Aziz PF, Gleason MM, Kaplan PB, Shah MJ. Abnormalities of cardiac repolarization in Williams syndrome. Am J Cardiol<\/em>. 2010; 106(7): 1029-1033. \r\n\r\n\r\n\r\n”,”redirect_url”:””}}}

{“questions”:{“zj75s”:{“id”:”zj75s”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Gokul Thimmarayan, MD – Marshfield Clinic, Marshfield, WI and\r\nDestiny F Chau, MD – Arkansas Children\u2019s Hospital\/University of Arkansas for Medical Sciences, Little Rock, AR. \r\n\r\nA 1-day-old neonate with congenital complete heart block is scheduled for a pacemaker placement. Echocardiographic findings reveal a structurally normal heart. What is the MOST COMMON cause of isolated congenital complete heart block?”,”desc”:””,”hint”:””,”answers”:{“wlk9w”:{“id”:”wlk9w”,”image”:””,”imageId”:””,”title”:”A) Maternal metabolic disease”},”tbhj2″:{“id”:”tbhj2″,”image”:””,”imageId”:””,”title”:”B) Maternal autoimmune antibodies”,”isCorrect”:”1″},”eck2s”:{“id”:”eck2s”,”image”:””,”imageId”:””,”title”:”C) Maternal medication exposure during pregnancy”},”s3ht8″:{“id”:”s3ht8″,”image”:””,”imageId”:””,”title”:”D) Maternal viral infection during pregnancy”}}}},”results”:{“7zkfx”:{“id”:”7zkfx”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:”Congenital complete heart block (CCHB) is a rare disorder that is associated with high morbidity and mortality occurring in approximately 1:15-20,000 patients. CCHB describes atrioventricular block diagnosed in utero or during the first 27 days of life. Of the patients with CCHB, fourteen to forty-two percent of cases are associated with congenital heart disease (CHD). This may include congenitally corrected transposition of the great arteries, complete atrioventricular canal defect, and heterotaxy with left atrial isomerism. Maternal autoimmune antibody transfer is the most common cause (ninety-one percent) of CCHB in the remaining percentage of cases. Maternal factors like diabetes, medication exposure (anticonvulsants and retinoic acid), viral infections, and channelopathies are also associated with increased risk of CCHB in the offspring. \r\n\r\nAutoimmune CCHB is a manifestation arising from neonatal lupus. Passively transferred maternal autoantibodies to the ribonuclear protein RO (SS-A) and LA (SS-B) cause neonatal lupus. Women with positive antibody titers carry approximately a two percent risk of having a baby with neonatal cardiac lupus after a prior unaffected pregnancy and have a thirteen to eighteen percent risk in subsequent pregnancies. The autoantibodies bind to the cardiac conduction tissue causing inflammation and fibrosis leading to conduction defects. The antibodies are also postulated to affect myocardial cells resulting in cardiomyopathy and endocardial fibroelastosis. Slow heart rate in the fetus with no structural anomaly of the heart and positive maternal antibody is diagnostic of autoimmune CCHB. The vast majority of infants present with third-degree or complete heart block although the presentation may vary from first- to third- degree atrioventricular block. Autoimmune CCHB has an approximate mortality rate of nineteen percent in which a majority occur in utero. Risk of fetal mortality is increased with hydrops, diagnosis of CCHB at earlier than twenty weeks of gestation, ventricular escape rate less than fifty-five beats per minute , impaired left ventricular function, myocardial inflammation, and dilated cardiomyopathy. The presence of dilated cardiomyopathy is a poor prognostic factor. Noncardiac manifestations of neonatal lupus typically self-resolve with clearance of the maternal autoantibodies over the first months of life. \r\n\r\nFetal echocardiography with doppler is the standard diagnostic tool in evaluating CCHB. The assessment of cardiac anatomy, heart rate and mechanical function can deduce abnormalities of electrophysiologic conduction and cardiac structure. With early diagnosis, subsequent intervention is based on the severity of the heart block along with close follow-up and monitoring with serial fetal echocardiograms. Maternal corticosteroids, intravenous immunoglobulin therapy, beta-agonist therapy, and hydroxychloroquine have been used with varying degrees of success. Once CCHB occurs, it is mostly likely irreversible, necessitating pace-maker implantation. In fact, more than two-thirds of these patients require a permanent pacemaker, the majority of which are implanted in the neonatal period. \r\n\r\nReferences: \r\nSteinberg L. Congenital heart block. Card Electrophysiol Clin<\/em>. 2021; 13(4): 691-702. \r\n\r\nPruetz JD, Miller JC, Loeb GE, Silka MJ, Bar-Cohen Y, Chmait RH. Prenatal diagnosis and management of congenital complete heart block. Birth Defects Res<\/em>. 2019; 111(8): 380-388. \r\n\r\nFriedman DM, Duncanson LJ, Glickstein J, Buyon JP. A review of congenital heart block. Images Paediatr Cardiol<\/em> 2003; 5(3): 36-48. \r\n\r\nIzmirly PM, Chalumeau CN, Pisoni C, et al. Maternal use of hydroxychloroquine is associated with a reduced risk of recurrent Anti-SSA\/RO associated cardiac manifestation of neonatal lupus. Circulation<\/em>. 2012; 126(1): 76-82.\r\n”,”redirect_url”:””}}}

{“questions”:{“hc55h”:{“id”:”hc55h”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Gokul Thimmarayan, MD – Marshfield Clinic, Marshfield, WI and\r\nDestiny F. Chau, MD – Arkansas Children\u2019s Hospital\/University of Arkansas for Medical Sciences, Little Rock, AR. \r\n\r\nA 1-week-old neonate with pulmonary atresia and ventricular septal defect undergoes a complete surgical repair. Postoperatively, the patient has persistent hypocalcemia and prolonged mechanical ventilation due to pneumonia. Subsequent workup demonstrates immunodeficiency. Which of the following syndromes is MOST LIKELY associated with this constellation of findings?\r\n”,”desc”:””,”hint”:””,”answers”:{“8gytg”:{“id”:”8gytg”,”image”:””,”imageId”:””,”title”:”A) 22q11.2 deletion syndrome”,”isCorrect”:”1″},”6n0bu”:{“id”:”6n0bu”,”image”:””,”imageId”:””,”title”:” B) CHARGE syndrome”},”qc38e”:{“id”:”qc38e”,”image”:””,”imageId”:””,”title”:”C) Williams syndrome”},”aj4h6″:{“id”:”aj4h6″,”image”:””,”imageId”:””,”title”:”D) Alagille syndrome”}}}},”results”:{“s50zx”:{“id”:”s50zx”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:”22q11.2 deletion syndrome is the most common chromosomal microdeletion disorder affecting 1:2000 to 1:6000 live births. The microdeletion leads to the maldevelopment of structures derived from the third and fourth pharyngeal arches. It is associated with parathyroid aplasia or hypoplasia resulting in hypocalcemia; hypoplasia of the thymus leading to immunodeficiency; and conotruncal anomalies such as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, and ventricular septal defect. It is also associated with palatal anomalies, facial dysmorphism, renal anomalies, speech and learning disabilities, and psychiatric illness. 22q11.2 deletion syndrome is a multisystem disorder with a heterogeneous presentation also known as DiGeorge syndrome, Velocardiofacial syndrome, and Conotruncal anomaly face syndrome. \r\n\r\nCongenital heart disease (CHD) is the most common cause of mortality in 22q11.2 deletion syndrome. Patients often require multiple cardiac surgeries due to complex congenital heart disease. The postoperative course may be complicated by prolonged mechanical ventilation, inotropic support, and prolonged intensive care unit and hospital stays. Hypocalcemia from parathyroid hypoplasia can be associated with perioperative hemodynamic instability and postoperative seizures. The incidence of hypocalcemia is higher in those patients with CHD than those without CHD. Thymic hypoplasia is associated with T-cell deficiency resulting in an increased risk of recurrent and severe infections. Immunoglobulin (IgG, IgM, IgA) deficiency is seen in 10% of the patients with 22q11.2 deletion syndrome. Transfusion of blood products in IgA deficient patients could lead to a severe anaphylactic reaction. Irradiated and leukocyte-depleted blood products should be used to reduce the risk of infection and prevent transfusion-associated graft vs host disease due to the immunodeficient state. Craniofacial abnormalities such as micrognathia, retrognathia, and cleft palate could cause difficulty during endotracheal intubation. Of the syndromes listed in the answer choices, this patient\u2019s findings of a conotruncal cardiac lesion, persistent hypocalcemia, and immunodeficiency are most consistent with 22q11.2 deletion syndrome. The other syndromes are briefly described below. \r\nCHARGE syndrome is an acronym for the multisystem genetic conditions: Coloboma, Heart defects, Atresia of choanae, Retardation of growth and mental development, Genitourinary anomalies and Ear malformations\/hearing loss. It occurs with an approximate frequency of 1:10,000 births. It is diagnosed clinically and confirmed by detection of a genetic mutation in the CHD7 gene on chromosome 8q12. Cardiac malformations are present in 75-85% of the patients. Conotruncal defects, atrioventriculoseptal defects, and aortic arch abnormalities are seen commonly in CHARGE syndrome. \r\nWilliams syndrome or Williams-Beuren syndrome (WS) is a multisystem disorder caused by the deletion of multiple genes in chromosome 7 including the elastin gene. Williams syndrome occurs in 1:7,500 to 10,000 births. Patients with WS have characteristic facial findings including flat nasal bridge, short upturned nose, periorbital puffiness, long philtrum and delicate chin. Smooth muscle cells in patients with WS produce a decreased amount of normal elastin resulting in an arterial media with many hypertrophied smooth muscle cells, thickening of the media of large arteries, and ultimately obstructive lesions. The most common lesion is supravalvular aortic stenosis that characteristically develops at the sinotubular junction. Stenosis can also occur in the pulmonary arteries, coronary arteries, aortic arch, descending aorta, renal arteries, and mesenteric arteries. Patients with Williams syndrome are known to have increased risk of sudden cardiac death, especially in the setting of sedation and anesthesia. This is mostly attributed to the presence of coronary artery stenosis and biventricular outflow tract obstruction. Hypertension, hypercalcemia, impaired growth and impaired cognition are other associated findings. \r\n\r\nAlagille syndrome is a rare autosomal dominant, multisystem disorder occurring in approximately 1:70,000 births. It is related to mutations in the JAG1 gene or the NOTCH2 gene. It is associated with a paucity of intrahepatic bile ducts leading to cholestasis and potential liver failure. Other abnormalities include cardiac anomalies such as peripheral pulmonary artery stenosis and tetralogy of Fallot; butterfly vertebrae; typical facial features such as prominent forehead, deep-set eyes with moderate hypertelorism, pointed chin, and straight nose with a bulbous tip; and vascular and renal anomalies. \r\n\r\nReferences: \r\nYeoh TY, Scavonetto F, Hamlin RJ, Burkhart HM, Sprung J, Weingarten TN. Perioperative management of patients with DiGeorge syndrome undergoing cardiac surgery. J Cardiothorac Vasc Anesth.<\/em> 2014; 28(4): 983-989. \r\n\r\nRayannavar A, Levitt Katz LE, Crowley TB, et al. Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome. Am J Med Genet A.<\/em> 2018; 176(10): 2099-2103. \r\n\r\nDavies EG. Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol.<\/em> 2013; 4: 322. \r\n\r\nNational Institute of Health. National Center for Advancing Translational Sciences. Genetic and Rare diseases Information Center. 22q11.2 deletion syndrome. Last updated 2017 https:\/\/rarediseases.info.nih.gov\/diseases\/10299\/22q112-deletion-syndrome Accessed October 25, 2021. \r\n\r\nHsu P, Ma A, Wilson M, et al. CHARGE syndrome: a review. J Paediatr Child Health.<\/em> 2014; 50(7): 504-511. \r\n\r\nPober BR. Williams-Beuren syndrome. N Engl J Med.<\/em> 2010; 362(3): 239-252. \r\n\r\nBurch TM, McGowan FX, Kussman, BD, Powell AJ, DiNardo JA. Congenital Supravalvar Aortic Stenosis and Sudden Death Associated with Anesthesia: What\u2019s the Mystery? Anesth Analg. 2008;107(6); 1848-1854. \r\n\r\nCollins Ii RT, Collins MG, Schmitz ML, Hamrick JT. Peri-procedural risk stratification and management of patients with Williams syndrome. Congenit Heart Dis.<\/em> 2017; 12(2): 133. \r\n\r\nSaleh M, Kamath BM, Chitayat D. Alagille syndrome: clinical perspectives. Appl Clin Genet.<\/em> 2016; 9: 75-82. \r\n\r\n\r\n”,”redirect_url”:””}}}