Left Ventricular Function and Iron Loading Status in a Tertiary Center Hemochromatosis Cohort—A Cardiac Magnetic Resonance Study

Abstract

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.

The potential impact of hereditary hemochromatosis on the heart considering the disease stage and patient age—the role of echocardiography

“…The presented analysis showed that the correlations between the iron turnover parameters and echocardiographic indices were relatively weak. These findings align with data from the literature ( 23 , 35 , 36 ) and our previous results, including cardiac magnetic resonance assessments ( 10 , 37 ). There is probably no “direct” relationship between the levels of iron turnover parameters and myocardial function, and myocardial iron overload is not the only mechanism involved in the development of HH cardiomyopathy ( 1 ).…”

“…Previous studies presented changes in the heart documented on cardiac magnetic resonance (CMR) in patients with beta-thalassemia, most of whom met the current criteria for iron overload in terms of myocardial T2 * < 20 ms ( 40 – 42 ). HH is not the same iron overload model as beta-thalassemia, which has been documented in our previous study ( 37 ). In all the studied patients with HH, myocardial T2*, T1, and T2* did not fulfill the clinically severe iron overload (20 ms) threshold, which confirms the hypothesis that in modern patients with HH not simple iron storage in the heart could play an essential role in the heart damage process.…”