JS is a genetic disorder characterized by facial dysmorphology, cardiac disease, and thrombocytopenia. Its incidence is approximately 1 per 100,000 live births [9, 10]. Diagnosis is frequently based on clinical features and confirmed by karyotyping. Cardiac malformations are present in more than 50% of the patients diagnosed with JS, with two-thirds having VSDs or mitral or aortic valve abnormalities [11]. In addition, platelet abnormalities are frequently observed in JS. The Paris-Trousseau platelet syndrome is present in 95% of patients with JS [3, 4]. Platelet abnormalities manifest as thrombocytopenia or pancytopenia during infancy, but our patient presented with thrombocytopenia from birth and continued to have bleeding events and pancytopenia after surgery leading to the diagnosis of JS. Brain hemorrhages are frequently accompanied in patients with JS as observed in our patient [5].

The TEG test uses whole blood and has been widely utilized in evaluating coagulation function within 10–15 min in the operating room [12]. Intraoperative TEG may help reduce perioperative blood loss, avoid blood transfusions, and determine the strategy of blood product and hemostatic agent administration [7, 13]. In TEG® 6s, the Global hemostasis® cartridge performs conventional coagulation tests, and the PlateletMapping® cartridge measures platelet function [8]. In the current case, we used PlateletMapping® to evaluate platelet function. The HKH in PlateletMapping® is the same as the CKH (citrated kaolin with heparinase) in Global hemostasis®. It contains heparinase that neutralizes heparin and measures thrombin formed by kaolin and clot strength formed by fibrin.

Platelet count was normalized preoperatively and managed intraoperatively to keep platelet count above 100 × 103/μL with reference to platelet count and TEG® 6s. Before surgery, we detected the normal HKH-MA but prolonged HKH-R in our JS patient. This implies a normal maximum hemostatic capacity but a longer time to stop bleeding. This is consistent with the fact that JS is considered a granular release disorder because of the presence of giant granules in the smear [2, 4]. In general, HKH-R prolongation suggests a deficiency of coagulation factors. However, the maximal amplitude evaluated by activator F (ActF-MA), which reflects fibrinogen concentration, was within the normal range, and there were no coagulation factor abnormalities in the preoperative examination. Therefore, the prolonged HKH-R in this case may reflect abnormal platelet function such that only collagen aggregation is reduced while ADP aggregation is preserved.

Platelet transfusion was continued. HKH-R before the start and at the end of CPB improved to 15 min and 10.8 min, respectively. With this, we could perform anesthesia management and confirm that platelet transfusion improved the rate of platelet clot generation. Additionally, ActF-MA remained normal throughout the surgery. HKH-MA–ActF-MA, which indicates the clotting ability of platelets alone, also tended to improve throughout the surgery, suggesting the importance of platelet transfusion in this case.

The percent ADP inhibition increased to 47.1% after CPB withdrawal and improved thereafter (Table 1). Platelet count and ADP aggregation capacity have been reported to decrease after CPB to 57% and 10%, respectively [14]. The CPB time in our patient was approximately 2 h, but the increase in ADP inhibition may be due to CPB.

In conclusion, we presented a case of VSD closure in a JS patient with platelet abnormalities. As platelet count and platelet function need to be carefully monitored during the anesthetic management of patients with JS, a viscoelasticity test using TEG® 6s is a good tool to evaluate hemostatic capacity.

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