Abstract：
OBJECTIVE: We aimed to determine the prevalence of cardiovascular involvement in our Blau syndrome (BS) cohort and provide detailed analysis of their cardiovascular manifestations and outcome. We also tried to find out the risk factors for developing cardiovascular involvement.
METHODS: Clinical manifestations, laboratory findings, and treatments were reviewed. Clinical features were compared between children with cardiovascular involvement and those without angiocardiopathy.
RESULTS: A total of 38 BS children were eligible for final analysis. Among them, 13 (34.2%) developed Takayasu-like vasculitis and/or cardiopathy. Compared with those without angiocardiopathy, recurrent fever was more frequent in BS patients with cardiovascular involvement (p < 0.001). What is more, tumor necrosis factor alpha antagonists (anti-TNF) were more urgently needed in children with cardiovascular involvement (p = 0.015). BS patients with cardiovascular involvement include 4 with Takayasu-like vasculitis and 9 with cardiopathy. The onset of cardiovascular manifestations ranged from 0.75 to 18.5 years of age, with most cases occurring before school period. Symptoms were elusive and lacked specificity, such as dizziness, short of breath, and edema. Some patients were even identified because of the unexpected hypertension during follow-up. Cardiopathy and vasculitis occurred in patients with different genotypes. Imaging changes were discovered before the presentation of the typical triad in 3/4 patients with Takayasu-like vasculitis. Three children developed left ventricular dysfunction with decreased left ventricular ejection fraction. Combination of glucocorticoids and methotrexate with anti-TNF agents is a common treatment option for these BS patients. In the cohort, BS-related cardiovascular involvement was controlled well, with cardiac structural and functional abnormalities completely recovered and slower progression of vasculitis lesions.
CONCLUSIONS: Cardiovascular manifestations is not rare in BS patients. Because of its insidious onset, a systematic and comprehensive assessment of cardiovascular involvement should be performed in newly diagnosed patients with BS. Aggressive initiation of anti-TNF agents may be beneficial to improve the prognosis. Key Points • About 34.2% patients with Blau syndrome developed Takayasu-like vasculitis and/or cardiopathy. • Compared with those without angiocardiopathy, recurrent fever and application of anti-TNF agents were more frequent in BS patients with cardiovascular involvement (p < 0.001, p = 0.015) • Regular assessment of cardiovascular involvement is extremely necessary because of its insidious onset.
METHODS: Clinical manifestations, laboratory findings, and treatments were reviewed. Clinical features were compared between children with cardiovascular involvement and those without angiocardiopathy.
RESULTS: A total of 38 BS children were eligible for final analysis. Among them, 13 (34.2%) developed Takayasu-like vasculitis and/or cardiopathy. Compared with those without angiocardiopathy, recurrent fever was more frequent in BS patients with cardiovascular involvement (p < 0.001). What is more, tumor necrosis factor alpha antagonists (anti-TNF) were more urgently needed in children with cardiovascular involvement (p = 0.015). BS patients with cardiovascular involvement include 4 with Takayasu-like vasculitis and 9 with cardiopathy. The onset of cardiovascular manifestations ranged from 0.75 to 18.5 years of age, with most cases occurring before school period. Symptoms were elusive and lacked specificity, such as dizziness, short of breath, and edema. Some patients were even identified because of the unexpected hypertension during follow-up. Cardiopathy and vasculitis occurred in patients with different genotypes. Imaging changes were discovered before the presentation of the typical triad in 3/4 patients with Takayasu-like vasculitis. Three children developed left ventricular dysfunction with decreased left ventricular ejection fraction. Combination of glucocorticoids and methotrexate with anti-TNF agents is a common treatment option for these BS patients. In the cohort, BS-related cardiovascular involvement was controlled well, with cardiac structural and functional abnormalities completely recovered and slower progression of vasculitis lesions.
CONCLUSIONS: Cardiovascular manifestations is not rare in BS patients. Because of its insidious onset, a systematic and comprehensive assessment of cardiovascular involvement should be performed in newly diagnosed patients with BS. Aggressive initiation of anti-TNF agents may be beneficial to improve the prognosis. Key Points • About 34.2% patients with Blau syndrome developed Takayasu-like vasculitis and/or cardiopathy. • Compared with those without angiocardiopathy, recurrent fever and application of anti-TNF agents were more frequent in BS patients with cardiovascular involvement (p < 0.001, p = 0.015) • Regular assessment of cardiovascular involvement is extremely necessary because of its insidious onset.
摘要：
目的：我们旨在确定Blau综合征（BS）队列中心血管受累的患病率，并对其心血管表现和结局进行详细分析。我们还试图找出发生心血管疾病的危险因素。
方法：临床表现，实验室发现,并对治疗方法进行了回顾。比较了心血管受累儿童和无心血管疾病儿童的临床特征。
结果：共有38名BS儿童符合最终分析的条件。其中,13例（34.2％）发生Takayasu样血管炎和/或心脏病。与没有心血管疾病的患者相比，反复发热在有心血管疾病的BS患者中更为常见(p<0.001).更重要的是，心血管受累儿童更迫切需要肿瘤坏死因子α拮抗剂(抗TNF)(p=0.015).心血管受累的BS患者包括4例Takayasu样血管炎和9例心脏病。心血管表现的发病年龄为0.75至18.5岁,大多数病例发生在上学期间。症状难以捉摸，缺乏特异性，如头晕，呼吸短促,和水肿。一些患者甚至因为随访期间意外的高血压而被发现。心脏病和血管炎发生在不同基因型的患者中。在3/4的Takayasu样血管炎患者中，在出现典型三联征之前发现了影像学改变。三名儿童出现左心室功能不全，左心室射血分数降低。糖皮质激素和甲氨蝶呤与抗TNF药物的组合是这些BS患者的常见治疗选择。在队列中，BS相关的心血管受累控制良好，心脏结构和功能异常完全恢复，血管炎病变进展缓慢。
结论：在BS患者中心血管表现并不罕见。由于它的阴险发作，对新诊断的BS患者应进行系统全面的心血管受累评估.积极启动抗TNF药物可能有利于改善预后。要点•约34.2%的Blau综合征患者出现Takayasu样血管炎和/或心脏病。•与没有心血管疾病的患者相比，在有心血管疾病的BS患者中,反复发热和抗TNF药物的应用更为频繁(p<0.001,p=0.015)•定期评估心血管疾病的发病非常必要.
方法：临床表现，实验室发现,并对治疗方法进行了回顾。比较了心血管受累儿童和无心血管疾病儿童的临床特征。
结果：共有38名BS儿童符合最终分析的条件。其中,13例（34.2％）发生Takayasu样血管炎和/或心脏病。与没有心血管疾病的患者相比，反复发热在有心血管疾病的BS患者中更为常见(p<0.001).更重要的是，心血管受累儿童更迫切需要肿瘤坏死因子α拮抗剂(抗TNF)(p=0.015).心血管受累的BS患者包括4例Takayasu样血管炎和9例心脏病。心血管表现的发病年龄为0.75至18.5岁,大多数病例发生在上学期间。症状难以捉摸，缺乏特异性，如头晕，呼吸短促,和水肿。一些患者甚至因为随访期间意外的高血压而被发现。心脏病和血管炎发生在不同基因型的患者中。在3/4的Takayasu样血管炎患者中，在出现典型三联征之前发现了影像学改变。三名儿童出现左心室功能不全，左心室射血分数降低。糖皮质激素和甲氨蝶呤与抗TNF药物的组合是这些BS患者的常见治疗选择。在队列中，BS相关的心血管受累控制良好，心脏结构和功能异常完全恢复，血管炎病变进展缓慢。
结论：在BS患者中心血管表现并不罕见。由于它的阴险发作，对新诊断的BS患者应进行系统全面的心血管受累评估.积极启动抗TNF药物可能有利于改善预后。要点•约34.2%的Blau综合征患者出现Takayasu样血管炎和/或心脏病。•与没有心血管疾病的患者相比，在有心血管疾病的BS患者中,反复发热和抗TNF药物的应用更为频繁(p<0.001,p=0.015)•定期评估心血管疾病的发病非常必要.
