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Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome

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Abstract

Objectives

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.

Conclusion

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.

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Data availability

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy and ethical restrictions.

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Funding

This work was supported by the National Key Research and Development Program of China (2021YFC2702001), National High Level Hospital Clinical Research Funding (2022-PUMCH-B-079 and 2022-PUMCH-A-092), and Natural Science Foundation of Beijing (L202050).

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Authors and Affiliations

  1. Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China

    Linqing Zhong, Wei Wang, Xiaoyan Tang, Yu Zhang, Lijuan Gou, Lin Wang, Changyan Wang, Shan Jian, Meiying Quan, Zhenjie Zhang, Zhongxun Yu, Zhengqing Qiu, Min Wei & Hongmei Song

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  1. Linqing Zhong
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  2. Wei Wang
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  3. Xiaoyan Tang
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  4. Yu Zhang
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  6. Lin Wang
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Correspondence to Hongmei Song.

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Zhong, L., Wang, W., Tang, X. et al. Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome. Clin Rheumatol 43, 1171–1181 (2024). https://doi.org/10.1007/s10067-024-06876-w

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  • DOI: https://doi.org/10.1007/s10067-024-06876-w

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