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Prenatal diagnosis of Holt-Oram syndrome Holt-Oram综合征的产前诊断
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0058
V. Foreste, C. Riccardi, B. Zizolfi, A. Gallo, A. Di Spiezio Sardo
Abstract Objectives To detect common congenital disorders in Holt-Oram syndrome. Case presentation We present a case of a 32 years old primigravida pregnant woman affected by Holt-Oram syndrome referred to our institution for second trimester routine anatomy scan. The ultrasound reported a bilateral aplasia radii, slightly curved ulna and bilateral twisted hand with four digital rays. A significant enlargement of the right atrium without tricuspid regurgitation was also detected. The patient refused the amniocentesis and the postnatal evaluation confirmed the diagnosis of Holt-Oram syndrome. Conclusions Holt-Oram syndrome is an autosomal dominant genetic condition. It is characterized by abnormalities in the bones of the upper limb and congenital heart malformation. The mutation can be inherited, but most cases result from a new mutation in patients without family history of the disorder.
目的探讨Holt-Oram综合征常见的先天性疾病。我们报告了一例32岁的初产妇因Holt-Oram综合征到我们的机构进行妊娠中期常规解剖扫描。超声显示双侧桡骨发育不全,尺骨轻微弯曲,双侧手扭曲。右心房明显增大,但无三尖瓣反流。患者拒绝羊膜穿刺术,产后检查证实诊断为Holt-Oram综合征。结论Holt-Oram综合征是一种常染色体显性遗传病。它的特点是上肢骨骼异常和先天性心脏畸形。这种突变可以遗传,但大多数病例是由于没有这种疾病家族史的患者发生了新的突变。
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引用次数: 0
Haemophagocytic lymphohistiocytosis during pregnancy: a case presentation and literature review 妊娠期嗜血球性淋巴组织细胞增多症一例报告及文献复习
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0004
Larissa Fávero Vanraes, Veerle Beckers, K. van Berkel, L. Gucciardo, G. Faron
Abstract Objectives Haemophagocytic lymphohistiocytosis (HLH) is a potentially fatal disorder of the immune system that typically occurs in the paediatric population. Diagnosing this rare disease in the adult population is challenging, particularly during pregnancy. Case presentation We present a case of a gravid patient developing HLH at week 13 of gestation undergoing a medical termination of pregnancy at 27 weeks due to anhydramnios and associated stopped foetal growth. Conclusions Disease triggers could vary from a simple viral infection to the pregnancy as such causing the disorder. Treatment should benefit the mother and limit the foetal harm.
摘要:目的噬血细胞性淋巴组织细胞增多症(HLH)是一种潜在的致命性免疫系统疾病,通常发生在儿科人群中。在成年人群中诊断这种罕见疾病具有挑战性,特别是在怀孕期间。病例介绍我们提出一例妊娠患者在妊娠13周发展HLH经历医学终止妊娠27周由于羊水和相关胎儿停止生长。结论:疾病的触发因素可能从简单的病毒感染到导致疾病的妊娠。治疗应该有利于母亲,限制对胎儿的伤害。
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引用次数: 0
The journey from blue to pink–a rare cause for self-limiting methemoglobinemia in an Indian baby 从蓝色到粉红色的过程——这是一个印度婴儿患上自限性高铁血红蛋白血症的罕见原因
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0054
S. Chandran, B. Ross, Manish Kumar
Abstract Objectives To describe a rare case of methemoglobinemia in a newborn baby with excellent prognosis. Methemoglobinemia in the neonatal period is very rare and when present is usually caused by environmental toxicity from strong oxidizing agents and rarely due to enzyme deficiency or inherited disorders of hemoglobin metabolism. Case presentation We report a newborn baby presented with cyanosis and desaturation right from birth, later found to have methemoglobinemia and started medication. Genetic evaluation revealed a mutation in the gamma chain of fetal haemoglobin (HbF) causing abnormal hemoglobin. Physiologically significant mutations in gamma-globin genes cause symptoms in the fetus and neonate that gradually abate in the first few months of life. Conclusions Genetic evaluation is advisable in babies with unexplained methemoglobinemia as the prognosis of the condition depends on the underlying mutation. Early diagnosis of methemoglobinemia due to gamma chain mutation in HbF as in our case helps in reassuring the parents and also in preventing unnecessary aggressive investigations.
摘要目的报道一例罕见的新生儿高铁血红蛋白血症,预后良好。新生儿时期的高铁血红蛋白血症是非常罕见的,当出现时通常是由强氧化剂的环境毒性引起的,很少是由于酶缺乏或遗传性血红蛋白代谢障碍。我们报告一个新生儿从出生开始就表现为紫绀和去饱和,后来发现有高铁血红蛋白血症并开始药物治疗。遗传评估显示胎儿血红蛋白(HbF) γ链突变导致异常血红蛋白。生理上显著的γ -珠蛋白基因突变会导致胎儿和新生儿出现症状,这些症状在出生后的最初几个月逐渐减轻。结论对不明原因高铁血红蛋白血症的婴儿进行遗传评估是可取的,因为这种疾病的预后取决于潜在的突变。在本病例中,由于乙型肝炎γ链突变引起的高铁血红蛋白血症的早期诊断有助于让父母放心,也有助于防止不必要的积极检查。
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引用次数: 0
Fetal neonatal alloimmune thrombocytopenia treatment with intravenous immunoglobulin: a challenge in pregnancy management and infection assessment ‒ case report 静脉注射免疫球蛋白治疗胎儿新生儿同种免疫血小板减少症:妊娠管理和感染评估的挑战-病例报告
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0095
S. da Cunha, Maria Carolina Fortuna Carneiro, I. Reis, C. Rasteiro, Augusta Pinto, T. Teles
Abstract Objectives Fetal and neonatal alloimmune thrombocytopenia is a rare condition associated with fetal and neonatal morbimortality. Prevention of recurrence includes intravenous immunoglobulin. One challenge in pregnancy surveillance remains the fact that maternal intravenous immunoglobulins therapy can result in false-positive infectious markers. The goal of this case report is to highlight the possible serological misdiagnosed infection associated with intravenous immunoglobulins therapy in pregnancy, and the difficulty of management in this time of a women’s life. Case presentation We report a case of a 38-year-old pregnant woman, with a previous affected child with fetal neonatal alloimmune thrombocytopenia. To prevent recurrence, intravenous immunoglobulin treatment was administered in early second trimester. In the second trimester routine analysis, a positive anti-treponemal test and a toxoplasmosis seroconversion occurred. Infection suspicion based on test positivity of some infectious agents, after passive acquired antibodies, can lead to anxiety and subsequent unnecessary treatment. Conclusions Clinicians and pathologists must be aware of the possible acquisition of these antibodies during treatment and be able to counsel patients receiving intravenous immunoglobulin. Managing possible infectious intercurrences in pregnancy remains a challenge.
摘要目的胎儿和新生儿同种免疫性血小板减少症是一种罕见的与胎儿和新生儿死亡率相关的疾病。预防复发包括静脉注射免疫球蛋白。妊娠监测面临的一个挑战仍然是,母体静脉注射免疫球蛋白治疗可能导致感染标志物假阳性。本病例报告的目的是强调与妊娠期静脉注射免疫球蛋白治疗相关的可能的血清学误诊感染,以及在妇女生命的这一时期管理的困难。我们报告一例38岁的孕妇,与以前的影响儿童与胎儿新生儿同种免疫性血小板减少症。为防止复发,在妊娠中期早期给予静脉注射免疫球蛋白治疗。在妊娠中期常规分析中,抗螺旋体试验阳性和弓形虫病血清转化发生。在被动获得性抗体后,基于某些感染因子测试阳性的感染怀疑可能导致焦虑和随后的不必要治疗。结论临床医生和病理学家必须意识到在治疗过程中可能获得这些抗体,并能够建议患者接受静脉注射免疫球蛋白。管理妊娠期可能出现的感染交叉仍然是一项挑战。
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引用次数: 0
Acute uterine inversion – A complication revisited; a case series and review of literature 急性子宫内翻-并发症再遇;一个案例系列和文献综述
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2020-0081
A. Kaur, Beant Singh
Abstract Objectives The objective of this case series is to discuss the various presentations of acute uterine inversion and to discuss how these varied presentations can cause a diagnostic confusion. Differences in acute uterine inversion following a vaginal delivery and a cesarean section are also discussed along with the management of acute uterine inversion, emphasizing the need for a rapid diagnosis and management. Case presentation Three such cases of acute uterine inversion – two after vaginal delivery (one second-degree inversion and one third degree inversion) and one during cesarean section have been discussed along with their management. Conclusions Uterine inversion is a potentially life-threatening complication which can be prevented by active and careful management of third stage of labor and avoiding cord traction prior to development of the signs of placental separation. Early stages of uterine inversion may be confused with a prolapsed fibroid or a cervical polyp. Prompt management can avert maternal mortality and morbidity.
摘要目的本病例系列的目的是讨论急性子宫内翻的各种表现,并讨论这些不同的表现如何引起诊断混乱。阴道分娩和剖宫产后急性子宫内翻的差异也与急性子宫内翻的处理一起讨论,强调快速诊断和处理的必要性。本文讨论了3例急性子宫内翻的病例,其中2例为阴道分娩后(1例为二度内翻,1例为三度内翻),1例为剖宫产时的处理方法。结论子宫内翻是一种潜在的危及生命的并发症,在出现胎盘分离迹象之前,积极谨慎地处理第三产程,避免脐带牵引,可以预防子宫内翻。子宫内翻的早期阶段可能与脱垂的肌瘤或宫颈息肉混淆。及时管理可避免产妇死亡和发病。
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引用次数: 0
Neonatal sepsis due to Coxsackievirus B3 complicated by liver failure and pulmonary hemorrhage 柯萨奇B3病毒致新生儿败血症并发肝功能衰竭和肺出血
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0085
Rasmey Thach, L. Gitto
Abstract Objectives Coxsackievirus B3 (CVB3) is a single-stranded RNA included in the “Human Enterovirus B” category associated with multiple, even severe, health issues in humans. Newborns are at risk of life-threatening conditions due to enteroviral infections. In newborns, the infection can be transmitted vertically, intrapartum or postpartum, and potentially through breast milk. Neonatal sepsis may result in severe complications, such as liver failure and pulmonary hemorrhage, with subsequent death. Case presentation A male newborn was admitted to the emergency department with fever, generalized hypotonia, hypo-reactivity to external stimuli, multiple episodes of apnea and desaturation, and metabolic acidosis. Laboratory studies revealed disseminated intravascular coagulation, and evidence of progressive multiorgan failure. Polymerase chain reaction performed on specimens collected at the time of admission returned positive for Enterovirus, specifically Coxsackievirus B3 VP1 gene. The patient eventually succumbed after several days due to severe sepsis, despite aggressive treatment with immunoglobulins and Pleconaril. An autopsy revealed hemorrhage in the lung, liver, heart, and gastric mucosa. Conclusions Enteroviral neonatal infections should be included in the differential diagnosis of a newborn presenting with fever, failure to thrive, and hyporeactivity, especially if symptoms arise during the classic CVB3 season. Maternal medical history should be reviewed for any possible febrile symptoms associated with a recent enterovirus infection. Aggressive treatment with immunoglobulins and, if available, Pleconaril could effectively treat the infection.
柯萨奇B3病毒(CVB3)是一种单链RNA,属于“人类肠道病毒B”类别,与人类多种甚至严重的健康问题相关。由于肠道病毒感染,新生儿面临生命危险。在新生儿中,感染可通过垂直、产时或产后传播,也有可能通过母乳传播。新生儿败血症可导致严重的并发症,如肝功能衰竭和肺出血,随后死亡。一例男婴因发热、全身性张力低下、对外部刺激反应低下、多次呼吸暂停和去饱和、代谢性酸中毒而入院急诊。实验室研究显示弥散性血管内凝血和进行性多器官功能衰竭的证据。对入院时采集的标本进行聚合酶链反应,肠病毒,特别是柯萨奇病毒B3 VP1基因呈阳性。尽管患者接受了免疫球蛋白和Pleconaril的积极治疗,但由于严重的败血症,患者最终在几天后死亡。尸检显示肺、肝、心和胃粘膜出血。结论新生儿肠病毒感染应纳入以发热、发育不良和低反应性为表现的新生儿的鉴别诊断,特别是在典型的CVB3季节出现症状的新生儿。应回顾产妇的病史,以发现与近期肠道病毒感染有关的任何可能的发热症状。积极治疗免疫球蛋白,如果有的话,Pleconaril可以有效治疗感染。
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引用次数: 1
Acute glycogenic hepatopathy in pregnancy: a case report and literature review 妊娠期急性糖原性肝病1例报告并文献复习
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0065
O. Abuzeid, Mia Heiligenstein, Lama R. Noureddine, C. Heiselman, J. Bernasko
Abstract Objectives Acute glycogenic hepatopathy (AGH) is a rare complication of poorly controlled diabetes mellitus. This is the first report in the English literature describing accurate diagnosis and management of AGH during pregnancy. Case presentation A 46 year-old gravida 4 para 2 presented at 30 weeks gestation with uncontrolled diabetes, ketoacidosis, and severe hypertension. Euglycemia and normotension were achieved within 24 h of admission but serum transaminase levels which had been normal on admission increased to a very high level over several days, and then resolved spontaneously. Conclusions AGH may occur during pregnancy and should be considered in the context of chronic poorly controlled overt diabetes, rapid normalization of maternal blood glucose levels following high dose insulin therapy, and unexplained new-onset serum transaminase levels elevation. Accurate diagnosis is important because the correct treatment is conservative management, not delivery.
摘要目的急性糖原性肝病(AGH)是糖尿病控制不良的罕见并发症。这是英语文献中第一篇描述妊娠期AGH的准确诊断和管理的报告。一例46岁孕妇,妊娠30周出现未控制的糖尿病、酮症酸中毒和严重高血压。入院24小时内血糖正常,血压正常,但入院时正常的血清转氨酶水平在几天内升高到非常高的水平,然后自行消退。结论妊娠期可能发生AGH,在慢性控制不良的显性糖尿病、高剂量胰岛素治疗后母体血糖水平迅速正常化、不明原因的新发血清转氨酶水平升高等情况下应予以考虑。准确的诊断很重要,因为正确的治疗是保守管理,而不是分娩。
{"title":"Acute glycogenic hepatopathy in pregnancy: a case report and literature review","authors":"O. Abuzeid, Mia Heiligenstein, Lama R. Noureddine, C. Heiselman, J. Bernasko","doi":"10.1515/crpm-2021-0065","DOIUrl":"https://doi.org/10.1515/crpm-2021-0065","url":null,"abstract":"Abstract Objectives Acute glycogenic hepatopathy (AGH) is a rare complication of poorly controlled diabetes mellitus. This is the first report in the English literature describing accurate diagnosis and management of AGH during pregnancy. Case presentation A 46 year-old gravida 4 para 2 presented at 30 weeks gestation with uncontrolled diabetes, ketoacidosis, and severe hypertension. Euglycemia and normotension were achieved within 24 h of admission but serum transaminase levels which had been normal on admission increased to a very high level over several days, and then resolved spontaneously. Conclusions AGH may occur during pregnancy and should be considered in the context of chronic poorly controlled overt diabetes, rapid normalization of maternal blood glucose levels following high dose insulin therapy, and unexplained new-onset serum transaminase levels elevation. Accurate diagnosis is important because the correct treatment is conservative management, not delivery.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76604239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum 遗传咨询在肾脏和泌尿系统先天性异常(CAKUT)频谱的挑战
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0063
Ping Gong, M. Pelletier, N. Silverman, K. Kuhlman, R. Wallerstein
Abstract Objectives Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum. Case presentation We report on two families who presented with recurrent pregnancies affected with bilateral renal agenesis and negative family histories. Likely pathogenic variants in the GREB1L gene were identified in the affected pregnancies and subsequently in their asymptomatic fathers. The first familial variant was identified by a multi-gene CAKUT panel and the second by whole exome sequencing. Renal ultrasound showed the father in family 1 had asymptomatic unilateral pelvic kidney and the father in family 2 had no apparent renal anomalies. Conclusions Recent identification of genes responsible for CAKUT allows for genetic testing of affected families. Identification of the genetic etiology of CAKUT cases has multiple benefits including accurate risk assessment and reproductive options. Genetic counseling around CAKUT is challenging due to the extreme variability in presentation of the disorders.
摘要目的先天性肾和尿路异常是最常见的先天性缺陷之一。双侧肾发育不全是ckut谱系的一种严重表现。我们报告了两个家庭谁提出了复发妊娠影响双侧肾发育不全和阴性家族史。GREB1L基因可能的致病变异在受影响的妊娠和随后的无症状父亲中被确定。第一个家族性变异是通过多基因CAKUT小组鉴定的,第二个是通过全外显子组测序鉴定的。肾超声示家族1父亲无症状单侧盆腔肾,家族2父亲无明显肾异常。结论:最近对导致CAKUT的基因的鉴定使得对受影响家庭进行基因检测成为可能。确定CAKUT病例的遗传病因有多种好处,包括准确的风险评估和生殖选择。由于疾病表现的极端可变性,围绕CAKUT的遗传咨询具有挑战性。
{"title":"Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum","authors":"Ping Gong, M. Pelletier, N. Silverman, K. Kuhlman, R. Wallerstein","doi":"10.1515/crpm-2021-0063","DOIUrl":"https://doi.org/10.1515/crpm-2021-0063","url":null,"abstract":"Abstract Objectives Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum. Case presentation We report on two families who presented with recurrent pregnancies affected with bilateral renal agenesis and negative family histories. Likely pathogenic variants in the GREB1L gene were identified in the affected pregnancies and subsequently in their asymptomatic fathers. The first familial variant was identified by a multi-gene CAKUT panel and the second by whole exome sequencing. Renal ultrasound showed the father in family 1 had asymptomatic unilateral pelvic kidney and the father in family 2 had no apparent renal anomalies. Conclusions Recent identification of genes responsible for CAKUT allows for genetic testing of affected families. Identification of the genetic etiology of CAKUT cases has multiple benefits including accurate risk assessment and reproductive options. Genetic counseling around CAKUT is challenging due to the extreme variability in presentation of the disorders.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85191603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe hematoma following the use of low molecular weight heparin in preterm neonate 早产新生儿使用低分子肝素后的严重血肿
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0086
Naveed Ur Rehman Durrani, Elhindi Elfaki, Nqobile Tessa Sigola, C. Tscherning, S. Gupta, G. Glass, Phani Kiran Yajamanyum
Abstract Objectives With the increased survival of preterm neonates, thromboembolic (TE) events are increasingly being recognized due to the use of indwelling catheters. It is still debatable to treat TE with low molecular weight heparin (LMWH) or follow expectant management. Despite the safety and efficacy profile about using LMWH in adults, its use in extreme preterm neonates with TE events is limited. The therapeutic level and pharmacokinetics of LMWH in the preterm population are relatively variable. Case presentation We present a case with a severe hematoma on the left thigh following the use of LMWH, which was surgically drained and had a successful skin graft. Conclusions This case highlights the importance of early and close monitoring of injection sites in patients treated with LMWH.
摘要目的随着早产儿存活率的提高,由于留置导管的使用,血栓栓塞(TE)事件越来越多地被认识到。用低分子肝素(LMWH)治疗TE还是采用预期治疗仍有争议。尽管在成人中使用低分子肝素具有安全性和有效性,但它在有TE事件的极端早产新生儿中的使用是有限的。低分子肝素在早产儿中的治疗水平和药代动力学是相对可变的。我们报告一例使用低分子肝素后左大腿出现严重血肿的病例,手术引流并成功植皮。结论本病例强调了低分子肝素治疗患者早期密切监测注射部位的重要性。
{"title":"Severe hematoma following the use of low molecular weight heparin in preterm neonate","authors":"Naveed Ur Rehman Durrani, Elhindi Elfaki, Nqobile Tessa Sigola, C. Tscherning, S. Gupta, G. Glass, Phani Kiran Yajamanyum","doi":"10.1515/crpm-2021-0086","DOIUrl":"https://doi.org/10.1515/crpm-2021-0086","url":null,"abstract":"Abstract Objectives With the increased survival of preterm neonates, thromboembolic (TE) events are increasingly being recognized due to the use of indwelling catheters. It is still debatable to treat TE with low molecular weight heparin (LMWH) or follow expectant management. Despite the safety and efficacy profile about using LMWH in adults, its use in extreme preterm neonates with TE events is limited. The therapeutic level and pharmacokinetics of LMWH in the preterm population are relatively variable. Case presentation We present a case with a severe hematoma on the left thigh following the use of LMWH, which was surgically drained and had a successful skin graft. Conclusions This case highlights the importance of early and close monitoring of injection sites in patients treated with LMWH.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79737492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Chagasic heart failure in a pregnant woman in a non-endemic area: case report and long-term follow-up 非流行地区孕妇恰加斯型心力衰竭:病例报告和长期随访
IF 0.1 Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0074
Teresa Gastañaga-Holguera, V. González-González, P. Merino-Amador
Abstract Objectives Chagas disease (CD) is caused by infection with the protozoan Trypanosoma cruzi, a parasite that nests in various tissues, causing irreversible cardiac damage in 30% of patients with chronic disease and neurological or digestive lesions in 10%. CD is now found in areas receiving migrant populations where no vector-borne transmission occurs. Chagasic cardiomyopathy (CC) is the most serious complication of the chronic phase of CD and the major cause of morbidity and mortality among patients with CD. Case presentation Bolivian woman at 38 weeks of gestation was admitted at the emergency room with the diagnosis of congestive heart failure. Cesarean section was performed and maternal hypotension and uterine atony occurred. Dilated myocardiopathy with severe left ventricle dysfunction was diagnosed. The patient referred positive serology for T. cruzi and polymerase chain reaction (PCR) was positive so benznidazole therapy was started. She was discharged due to progressive improvement with cardiological treatment and implantable cardioverter defibrillator was placed 5 years later for the prevention of sudden cardiac death. Conclusions The diagnosis of CC in non-endemic areas requires a high index of suspicion and it is based on serology. Antiparasitic drugs are almost 100% effective in infected newborn babies and highly effective in the treatment of patients in the acute stage of the disease. However, the efficacy of both drugs decreases the longer a person has been infected. Treatment of CC that causes chronic heart failure is similar to that in non-Chagasic etiology.
目的恰加斯病(Chagas disease, CD)是一种由克氏锥虫(Trypanosoma cruzi)感染的原虫引起的疾病,克氏锥虫是一种寄生在各种组织中的寄生虫,30%的慢性疾病患者造成不可逆的心脏损伤,10%的患者造成神经或消化系统病变。目前在没有发生病媒传播的接收移民人口的地区发现了乳糜泻。恰加斯型心肌病(CC)是慢性乳糜泻最严重的并发症,也是乳糜泻患者发病率和死亡率的主要原因。病例介绍:一名玻利维亚妇女在妊娠38周时被诊断为充血性心力衰竭,住进了急诊室。行剖宫产术,产妇出现低血压和子宫张力。扩张型心肌病伴严重左心室功能障碍。患者转诊克氏体血清学阳性,聚合酶链反应(PCR)阳性,因此开始苯并硝唑治疗。经心脏科治疗,病情逐渐好转,5年后放置植入式心律转复除颤器,预防心源性猝死,出院。结论非流行地区CC的诊断需要高度的怀疑指数和血清学依据。抗寄生虫药物对受感染的新生儿几乎100%有效,对疾病急性期患者的治疗非常有效。然而,感染时间越长,这两种药物的疗效就越低。引起慢性心力衰竭的CC的治疗方法与非chagasic病因相似。
{"title":"Chagasic heart failure in a pregnant woman in a non-endemic area: case report and long-term follow-up","authors":"Teresa Gastañaga-Holguera, V. González-González, P. Merino-Amador","doi":"10.1515/crpm-2021-0074","DOIUrl":"https://doi.org/10.1515/crpm-2021-0074","url":null,"abstract":"Abstract Objectives Chagas disease (CD) is caused by infection with the protozoan Trypanosoma cruzi, a parasite that nests in various tissues, causing irreversible cardiac damage in 30% of patients with chronic disease and neurological or digestive lesions in 10%. CD is now found in areas receiving migrant populations where no vector-borne transmission occurs. Chagasic cardiomyopathy (CC) is the most serious complication of the chronic phase of CD and the major cause of morbidity and mortality among patients with CD. Case presentation Bolivian woman at 38 weeks of gestation was admitted at the emergency room with the diagnosis of congestive heart failure. Cesarean section was performed and maternal hypotension and uterine atony occurred. Dilated myocardiopathy with severe left ventricle dysfunction was diagnosed. The patient referred positive serology for T. cruzi and polymerase chain reaction (PCR) was positive so benznidazole therapy was started. She was discharged due to progressive improvement with cardiological treatment and implantable cardioverter defibrillator was placed 5 years later for the prevention of sudden cardiac death. Conclusions The diagnosis of CC in non-endemic areas requires a high index of suspicion and it is based on serology. Antiparasitic drugs are almost 100% effective in infected newborn babies and highly effective in the treatment of patients in the acute stage of the disease. However, the efficacy of both drugs decreases the longer a person has been infected. Treatment of CC that causes chronic heart failure is similar to that in non-Chagasic etiology.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91333896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Case Reports in Perinatal Medicine
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