Dorniak Karolina, Daniłowicz-Szymanowicz Ludmiła, Sikorska Katarzyna, Rozwadowska Katarzyna, Fijałkowska Jadwiga, Glińska Anna, Tuzimek Magdalena, Sabisz Agnieszka, Żarczyńska-Buchowiecka Marta, Świątczak Michał, Dudziak Maria, Szurowska Edyta
Department of Noninvasive Cardiac Diagnostics, Medical University of Gdansk, Dębinki 7, 80-210 Gdansk, Poland.
Department of Cardiology and Electrotherapy, Medical University of Gdansk, Dębinki 7, 80-210 Gdansk, Poland.
Diagnostics (Basel). 2022 Oct 28;12(11):2620. doi: 10.3390/diagnostics12112620.
Background: Haemochromatosis (HCH), a common genetic disorder with variable penetrance, results in progressive but understudied iron overload. We prospectively evaluated organ iron loading and cardiac function in a tertiary center HCH cohort. Methods: 42 HCH patients (47 ± 14 years) and 36 controls underwent laboratory workup and cardiac magnetic resonance (CMR), including T1 and T2* mapping. Results: Myocardial T2* (myoT2*), myocardial T1 (myoT1) and liver T2* (livT2*) were lower in patients compared to controls (33 ± 4 ms vs. 36 ± 3 ms [p = 0.004], 964 ± 33 ms vs. 979 ± 25 ms [p = 0.028] and 21 ± 10 ms vs. 30 ± 5 ms [p < 0.001], respectively). MyoT2* did not reach the threshold of clinically significant iron overload (<20 ms), in any of the patients. In 22 (52.4%) patients, at least one of the tissue parameters was reduced. Reduced myocardial T2* and/or T1 were found in 10 (23.8%) patients, including 4 pts with normal livT2*. LivT2* was reduced in 18 (42.9%) patients. MyoT1 and livT2* inversely correlated with ferritin (rs = −0.351 [p = 0.028] and rs = −0.602 [p < 0.001], respectively). LivT2* by a dedicated sequence and livT2* by cardiac T2* mapping showed good agreement (ICC = 0.876 p < 0.001). Conclusions: In contemporary hemochromatosis, significant myocardial iron overload is rare. Low myocardial T2* and/or T1 values may warrant closer follow-up for accelerated myocardial iron overload even in patients without overt liver overload. Cardiac T2* mapping sequence allows for liver screening at the time of CMR.
血色素沉着症（HCH）是一种常见的具有可变外显率的遗传性疾病，会导致进行性但研究不足的铁过载。我们在一家三级中心的HCH队列中对器官铁负荷和心脏功能进行了前瞻性评估。方法：42例HCH患者（47±14岁）和36例对照者接受了实验室检查和心脏磁共振成像（CMR），包括T1和T2* mapping。结果：与对照组相比，患者的心肌T2*（myoT2*）、心肌T1（myoT1）和肝脏T2*（livT2*）较低（分别为33±4 ms对36±3 ms [p = 0.004]，964±33 ms对979±25 ms [p = 0.028]，以及21±10 ms对30±5 ms [p < 0.001]）。在任何患者中，myoT2均未达到临床显著铁过载的阈值（<20 ms）。在22例（52.4%）患者中，至少有一项组织参数降低。在10例（23.8%）患者中发现心肌T2和/或T1降低，其中4例患者的livT2正常。18例（42.9%）患者的livT2降低。MyoT1和livT2与铁蛋白呈负相关（分别为rs = -0.351 [p = 0.028]和rs = -0.602 [p < 0.001]）。通过专用序列测得的livT2与通过心脏T2* mapping测得的livT2显示出良好的一致性（ICC = 0.876，p < 0.001）。结论：在当代血色素沉着症中，显著的心肌铁过载很少见。即使在没有明显肝脏过载的患者中，低心肌T2和/或T1值可能也需要密切随访以监测是否加速出现心肌铁过载。心脏T2* mapping序列可在CMR检查时对肝脏进行筛查。
