{“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”:””}}}
Question of the Week 396
{“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”}}}
Question of the Week 395
{“questions”:{“vl96q”:{“id”:”vl96q”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Authors: Christopher Busack, MD and Daniela Perez-Velasco, DO \u2013 Children\u2019s National Hospital
\r\nA 3-year-old male child with heterotaxy syndrome is scheduled for the Fontan procedure. Which of the following anatomic configurations is MOST LIKELY to be associated with the lowest transplant free survival after the Fontan procedure?”,”desc”:””,”hint”:””,”answers”:{“qq6u5”:{“id”:”qq6u5″,”image”:””,”imageId”:””,”title”:”A. Situs inversus totalis”},”s9de1″:{“id”:”s9de1″,”image”:””,”imageId”:””,”title”:”B. Left isomerism”},”8hv5l”:{“id”:”8hv5l”,”image”:””,”imageId”:””,”title”:”C. Right isomerism”,”isCorrect”:”1″},”vih0e”:{“id”:”vih0e”,”image”:””,”imageId”:””,”title”:”D. Situs solitus\r\n\r\n”}}}},”results”:{“pps2l”:{“id”:”pps2l”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:””,”redirect_url”:”https:\/\/ccasociety.org\/wp-content\/uploads\/2022\/11\/CCAS-QOW-Posted-11-10-2022.pdf”}}}
Question of the Week 394
{“questions”:{“rayb8”:{“id”:”rayb8″,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Author: Sana Ullah, MB ChB, FRCA \u2013 Dallas, TX
\r\nAn 8-month-old male infant is status post repair of a large perimembranous ventricular septal defect (VSD). After separation from cardiopulmonary bypass, the patient has the following vital signs: heart rate 130, blood pressure 80\/45, and pulse oximetry 99% with a fractional inspired oxygen (FiO2<\/sub>) of 0.25. The post-repair transesophageal echocardiogram (TEE) reveals a small residual VSD. In order to determine if the VSD is hemodynamically significant, the surgeon samples blood from the superior vena cava (SVC) and the main pulmonary artery (PA), resulting in oxygen saturations of 60% and 80% respectively. What is the Qp:Qs?”,”desc”:””,”hint”:””,”answers”:{“n0fvy”:{“id”:”n0fvy”,”image”:””,”imageId”:””,”title”:”A. 1:1″},”jmf93″:{“id”:”jmf93″,”image”:””,”imageId”:””,”title”:”B. 2:1″,”isCorrect”:”1″},”a76xd”:{“id”:”a76xd”,”image”:””,”imageId”:””,”title”:”C. 3:1″},”637mm”:{“id”:”637mm”,”image”:””,”imageId”:””,”title”:”D. Cannot be calculated with the given information”}}}},”results”:{“gtnc6”:{“id”:”gtnc6″,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:””,”redirect_url”:”https:\/\/ccasociety.org\/wp-content\/uploads\/2022\/11\/CASS-QOW-Posted-11-3-2022.pdf”}}}
Question of the Week 393
{“questions”:{“44duu”:{“id”:”44duu”,”mediaType”:”image”,”answerType”:”text”,”imageCredit”:””,”image”:””,”imageId”:””,”video”:””,”imagePlaceholder”:””,”imagePlaceholderId”:””,”title”:”Author: Sana Ullah MB ChB, FRCA \u2013 Dallas TX
\r\n\r\nA 12-year-old male child is admitted to the cardiology service with frequent palpitations and dizziness. He is awake, alert and hemodynamically stable. A 12-lead ECG is performed. Which of the following types of congenital heart disease is MOST associated with supraventricular tachycardia secondary to an accessory pathway?”,”desc”:””,”hint”:””,”answers”:{“4xnv9”:{“id”:”4xnv9″,”image”:””,”imageId”:””,”title”:”A.\tCongenitally corrected transposition of the great arteries”},”axet3″:{“id”:”axet3″,”image”:””,”imageId”:””,”title”:”B.\tEbstein\u2019s anomaly”,”isCorrect”:”1″},”uxses”:{“id”:”uxses”,”image”:””,”imageId”:””,”title”:”C.\tLeft atrial isomerism”},”qyfdb”:{“id”:”qyfdb”,”image”:””,”imageId”:””,”title”:”D.\tRepaired Tetralogy of Fallot with a right ventricular to pulmonary artery conduit “}}}},”results”:{“onj1q”:{“id”:”onj1q”,”title”:””,”image”:””,”imageId”:””,”min”:”0″,”max”:”1″,”desc”:””,”redirect_url”:”https:\/\/ccasociety.org\/wp-content\/uploads\/2022\/10\/CCAS-QOW-Posted-10-26-2022.pdf”}}}
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