Congenital heart defect

先天性心脏病
  • 文章类型: Case Reports
    右肺动脉异常起源于升主动脉是一种罕见的先天性心脏畸形,可导致婴儿早期死亡。这些患者有早期发展为显著肺动脉高压的风险。生命早期的手术管理势在必行。
    起源于升主动脉的异常肺动脉(通常称为半心)是一种罕见的先天性心脏缺陷,需要在新生儿期立即处理。我们报告了一例罕见的起源于升主动脉的右肺动脉异常变异,并伴有肺动脉闭锁和法洛四联症。上述组合使得这种心脏缺陷的外科治疗要求极高。
    UNASSIGNED: Anomalous origin of right pulmonary artery from the ascending aorta is a rare congenital heart malformation that results in early infant mortality. These patients are at risk for the early development of significant pulmonary hypertension. The surgical management during the early period of life is imperative.
    UNASSIGNED: Anomalous pulmonary artery originating from the ascending aorta (often called hemitruncus) is a rare congenital cardiac defect requiring immediate management in the neonatal period. We report a case of a rare variant of anomalous right pulmonary artery originating from the ascending aorta in combination with pulmonary atresia and tetralogy of Fallot. The above-mentioned combination makes the surgical management of such cardiac defect exceedingly demanding.
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  • 文章类型: Case Reports
    冠状动脉阻塞是经导管主动脉瓣置换术(TAVR)的一种罕见但破坏性的并发症,可能需要修改小叶。一名38岁的男子出现在我们中心,患有四瓣主动脉瓣并伴有严重的主动脉瓣反流。在TAVR之前,用生物假体或天然主动脉扇贝有意裂伤进行双小叶修饰,以防止医源性冠状动脉阻塞(BASILICA)技术,从4创建6小叶。患者对手术耐受良好,症状改善。随访经胸超声心动图显示生物主动脉瓣功能正常。该病例通过全面的术前分析和术中成像指导证明了该程序的可行性。
    Coronary artery obstruction is an uncommon yet devastating complication of transcatheter aortic valve replacement (TAVR) and may necessitate leaflet modification. A 38-year-old man presented to our center with quadricuspid aortic valve with severe aortic regurgitation. Double leaflet modification was performed with the Bioprosthetic or native Aortic Scallop Intentional Laceration to prevent Iatrogenic Coronary Artery obstruction (BASILICA) technique prior to TAVR, creating 6 leaflets from 4. The patient tolerated the procedure well with symptomatic improvement. Follow-up transthoracic echocardiogram showed normal bioprosthetic aortic valve function. This case demonstrates feasibility of this procedure with comprehensive preprocedural analysis and intraprocedural imaging guidance.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    背景:肝母细胞瘤(HB)患者患先天性心脏缺陷(CHD)的风险更高。关于这些患者的治疗和结果的文献有限。这项研究的目的是确定单个三级转诊中心中这些患者的人口统计学和结局。
    方法:对2004年10月至2021年1月新诊断的HB患者进行了机构审查委员会(IRB)批准的回顾性图表审查。CHD被定义为存在间隔缺损,动脉导管未闭,肺动脉闭锁,或二叶主动脉瓣。采用卡方检验和t检验进行统计分析。
    结果:在研究时间段内诊断为HB的151例患者中,29例患者被发现患有冠心病。非CHDHB患者的五年总生存率(OS)为81.9%,而CHD队列为68.9%(p=.12)。没有手术介入的冠心病患者的5年OS为63.6%,而手术修复的冠心病患者为70.5%(p=0.88)。与存活患者(3/16,18.8%,p=.01)。
    结论:患有HB和CHD的患者与没有CHD的患者具有相似的生存率。我们的数据支持HB和CHD患者应进行治愈性治疗,包括心脏手术干预。肿瘤内科治疗,以及他们HB的肿瘤手术.
    BACKGROUND: Patients with hepatoblastoma (HB) have a higher risk of congenital heart defects (CHD). There is limited literature on the management and outcomes of these patients. The purpose of this study was to identify demographics and outcomes of these patients in a single tertiary referral center.
    METHODS: An Institutional Review Board (IRB)-approved retrospective chart review of patients with newly diagnosed HB from October 2004 to January 2021 was performed. CHD was defined as the presence of a septal defect, patent ductus arteriosus, pulmonary atresia, or bicuspid aortic valve. Chi-square and t-test were utilized for statistical analyses.
    RESULTS: Of the 151 patients diagnosed with HB during the study timeframe, 29 patients were found to have CHD. Five-year overall survival (OS) for non-CHD HB patients was 81.9% compared to 68.9% in the CHD cohort (p = .12). The 5-year OS for patients without surgically intervened CHD was 63.6% compared to 70.5% for those with surgically repaired CHD (p = .88). Pre-treatment extent of tumor IV was present more often in patients with HB and CHD who passed away (6/9, 66.7%) compared to those who survived (3/16,18.8%, p = .01).
    CONCLUSIONS: Patients with HB and CHD have similar survival compared to those without CHD. Our data support that patients with HB and CHD should be treated with curative intent including cardiac surgical intervention, medical oncology therapy, and oncological surgery for their HB.
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  • 文章类型: Case Reports
    我们报告了一例现役潜水员,他患有严重的减压病,并伴有卵圆孔未闭,但与标准指南建议相反,已成功关闭。此病例应及时评估心脏筛查在职业潜水员中的作用,包括战术运动员,相对于娱乐潜水员。
    We report a case of an active-duty diver who developed severe decompression sickness with concomitant patent foramen ovale that was successfully closed contrary to standard guideline recommendations. This case should prompt evaluation of the role of cardiac screening in occupational divers, including tactical athletes, relative to recreational divers.
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  • 文章类型: Journal Article
    背景:这项研究描述了在中低收入国家管理总动脉干(CAT)20年的经验,并比较了红十字战争纪念儿童医院从导管过渡到非导管修复后的早期和中期结果。
    方法:对1999年1月至2018年12月在红十字战争纪念儿童医院接受CAT修复的年龄小于18岁的连续患者进行单中心回顾性研究。排除主动脉弓中断或先前肺动脉束带的患者。
    结果:54例患者在研究期间接受了CAT修复。34例(63.0%)患者进行了导管修复,20例(37.0%)患者进行了非导管修复。术中死亡2例。30天住院死亡率为22.2%(12/54)。总的来说,住院死亡率为29.6%(16/54).观察到8例(21.1%)晚期死亡率。导管组的精算生存率为77.5%,53.4%,在6个月、12个月和27个月时为44.5%,分别,6个月时,非导管组为58.6%。导管组和非导管组的再手术总自由度分别为66.2%和86.5%,66.2%对76.9%,在1年、2年和8年,分别为29.8%和64.1%,分别。
    结论:在低收入和中等收入环境中,CAT过渡到非导管修复后的结果似乎令人鼓舞。导管和非导管修复之间的死亡率没有差异,重要的是,结果表明了降低再干预率的趋势。
    BACKGROUND: This study describes the 20-year experience of managing common arterial trunk (CAT) in a low-and-middle-income country and compares the early and medium-term outcomes following the transition from conduit to nonconduit repair at the Red Cross War Memorial Children\'s Hospital.
    METHODS: Single-center retrospective study of consecutive patients aged less than 18 years who underwent repair of CAT from January 1999 to December 2018 at the Red Cross War Memorial Children\'s Hospital. Patients with interrupted aortic arch or previous pulmonary artery banding were excluded.
    RESULTS: Fifty-four patients had CAT repair during the study period. Thirty-four (63.0%) patients had a conduit repair, and 20 (37.0%) patients had a nonconduit repair. There were two intraoperative deaths. Thirty-day in-hospital mortality was 22.2% (12/54). Overall, in-hospital mortality was 29.6% (16/54). Eight (21.1%) late mortalities were observed. The actuarial survival for the conduit group was 77.5%, 53.4%, and 44.5% at 6, 12, and 27 months, respectively, and the nonconduit group was 58.6% at six months. The overall freedom from reoperation between the conduit group and nonconduit group was 66.2% versus 86.5%, 66.2% versus 76.9%, and 29.8% versus 64.1% at 1, 2, and 8 years, respectively.
    CONCLUSIONS: The outcomes following the transition to nonconduit repair for CAT in a low- and middle-income setting appear to be encouraging. There was no difference in mortality between conduit and nonconduit repairs, and importantly the results suggest a trend toward lower reintervention rates.
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  • 文章类型: Journal Article
    患有先天性心脏病的儿童更有可能在学校接受特殊教育服务,并且患心理健康问题的风险增加。我们探索了父母在丹麦照顾患有心脏病和并发心理健康问题的孩子的生活经历。使用解释性现象学分析对10位父母(39-57岁)对这些孩子(5-17岁)的半结构化访谈进行了分析。从分析中生成了三组体验主题(GET):第一个GET,父母的角色和关怀行为,描述了父母为实现其育儿角色的理想和经历而进行的斗争,并对MHI进行了污名化。得到两个,父母对他们疾病解释的反思,描绘了父母如何利用不同的疾病解释来理解他们孩子的MHI。得到三个,获得帮助和支持方面的差异,捕获CHD如何影响获得心理健康支持的整体机会。结果可能会为卫生专业人员在与这些家庭的临床接触中解决各种重要主题。
    先天性心脏病是最常见的先天性疾病,影响大约1%的新生儿。这些孩子的父母经常由于害怕失去孩子而经历巨大的心理困扰,住院和手术的负担,以及对孩子未来健康的担忧。此外,患有先天性心脏病的儿童更经常需要特殊教育服务,面临更高的心理健康问题风险。养育有心理健康问题的孩子也面临着具体的挑战,因为父母可能会发现很难为他们的孩子获得适当的帮助,可能会感到污名化或有责备和负罪感。我们通过采访10名儿童(5-17岁)的父母(39-57岁),探索了父母在丹麦抚养患有心脏病和心理健康问题的孩子的生活经历。通过定性分析,我们确定了对这些父母重要的三个主题:(1)父母的角色和关怀行为:父母在满足自己的育儿理想和处理心理健康问题的耻辱方面苦苦挣扎。(2)父母对他们的疾病解释的反思:了解孩子的心理健康问题很重要。父母经常认为孩子的心脏病和心理健康问题之间存在联系,受生物的影响,心理,或社会因素。(3)获得帮助和支持的差异:父母描述了孩子的心脏病如何影响他们获得心理健康支持的能力。一些人认为心脏病延迟了获得心理健康支持的机会,而其他人则利用身体状况来获得心理健康支持。总的来说,这些发现可能有助于卫生专业人员在临床环境中为这些家庭提供更好的支持.
    Children with congenital heart disease are more likely to receive special educational services in schools and have an increased risk of mental health issues. We explored the lived experiences of parents caring for a child with heart disease and concurrent mental health issues in Denmark. Semi-structured interviews with ten parents (age 39-57 years) to these children (age 5-17 years) were analysed using interpretative phenomenological analysis. Three Group Experiential Themes (GETs) were generated from the analysis: The first GET, Parental roles and caring behaviours, described parental struggles of fulfilling their parenting role ideals and experiences with stigmatization of MHI. GET two, Parental reflections on their illness explanations, portrayed how parents utilize different illness explanations to make sense of their child\'s MHI. GET three, Differences in access to help and support, captured how the CHD affected overall access to mental health support. The results may inform various topics of importance for health professionals to address in their clinical encounters with these families.
    Congenital heart disease is the most common congenital condition, affecting approximately 1% of newborns. Parents of these children often experience substantial psychological distress due to the fear of losing their child, the burden of hospital stays and surgeries, and concerns about their child’s future health. Additionally, children with congenital heart disease more often require special education services and face a higher risk of mental health issues. Parenting a child with mental health issues also presents specific challenges, as parents may find it hard to access proper help for their child, may feel stigmatised or have feelings of blame and guilt. We explored the lived experiences of parents raising a child with both heart disease and mental health issues in Denmark by interviewing ten parents (aged 39–57) of children (aged 5–17). Through qualitative analysis, we identified 3 themes of importance for these parents: (1) Parental roles and caring behaviours: Parents struggled with meeting their own parenting ideals and dealing with the stigma of mental health issues. (2) Parental reflections on their illness explanations: Understanding the child’s mental health issues was important. Parents often perceived a connection between their child’s heart disease and mental health issues, influenced by biological, psychological, or social factors. (3) Differences in access to help and support: Parents described how their child’s heart disease impacted their ability to obtain mental health support. Some felt that the heart disease delayed access to mental health support, while others leveraged the physical condition to secure mental health support. Overall, these findings might assist health professionals in providing better support to these families in clinical settings.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    背景:部分或完全房室管缺损患者的特殊亚组表现出一系列左侧阻塞,包括右心室优势和主动脉缩窄。在几种遗传综合征中发现了房室管缺损与左侧阻塞的关联;然而,非综合征性房室管缺损合并主动脉缩窄的分子基础仍然知之甚少。尽管一些非综合征性房室管缺损的候选基因是已知的,还假设了在某些情况下由多个变体的共同出现确定的复杂的寡基因遗传。
    方法:我们描述了一个具有内脏心房肌位的非综合征性心膜的婴儿,部分房室管缺损,轻度右心室优势,和主动脉缩窄.下一代测序基因检测揭示了两个基因的变异,GDF1和NOTCH1,先前报道与房室管缺损和左侧阻塞性病变有关,分别。
    结论:本报告可以支持这样的假设,即累积变异的同时发生可能被认为是特定先天性心脏病的遗传诱发风险因素。
    BACKGROUND: A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.
    METHODS: We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.
    CONCLUSIONS: The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.
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  • 文章类型: Journal Article
    与成人相比,儿童很少需要紧急或紧急心血管成像。患者可能从新生儿期到青春期,并且可能需要对创伤性和非创伤性原因进行成像。在儿童中,冠状动脉病理学很少是紧急情况的原因,不像成人是主要原因。放射学,包括胸部X线摄影和计算机断层扫描结合超声心动图,通常在这些患者的急性治疗中起着最重要的作用。磁共振成像有时可能有用,并且可能适用于更多的亚急性病例。放射科医师了解如何管理和解释这些急性疾病,包括了解使用哪种成像技术是适当护理的基础。在这次审查中,我们将专注于胸部最常见的心血管急症,包括胸部外伤性和非外伤性急症和肺血管急症,以及原发性和术后先天性心脏病导致的急性临床疾病。这篇综述将涵盖心血管成像可能急需的情况,而不仅仅是严格的紧急情况。影像学建议将根据不同的临床表现和基础病理进行讨论。
    The need for urgent or emergent cardiovascular imaging in children is rare when compared to adults. Patients may present from the neonatal period up to adolescence, and may require imaging for both traumatic and non-traumatic causes. In children, coronary pathology is rarely the cause of an emergency unlike in adults where it is the main cause. Radiology, including chest radiography and computed tomography in conjunction with echocardiography, often plays the most important role in the acute management of these patients. Magnetic resonance imaging can occasionally be useful and may be suitable in more subacute cases. Radiologists\' knowledge of how to manage and interpret these acute conditions including knowing which imaging technique to use is fundamental to appropriate care. In this review, we will concentrate on the most common cardiovascular emergencies in the thoracic region, including thoracic traumatic and non-traumatic emergencies and pulmonary vascular emergencies, as well as acute clinical disorders as a consequence of primary and postoperative congenital heart disease. This review will cover situations where cardiovascular imaging may be acutely needed, and not strictly emergencies only. Imaging recommendations will be discussed according to the different clinical presentations and underlying pathology.
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