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Published on: July 20, 2022
Significance of left atrial contractile function in asymptomatic subjects with hereditary hemochromatosis
Yukitaka Shizukuda1, Charles D Bolan, Dorothy J Tripodi
1Cardiovascular Branch, Bethesda, Maryland, USA. shizukuy@nhlbi.nih.gov <shizukuy@nhlbi.nih.gov>
Insights
Asymptomatic hereditary hemochromatosis (HH) patients show augmented atrial contraction on echocardiography, suggesting early subclinical diastolic dysfunction. This finding may precede detectable left ventricular relaxation abnormalities in HH.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hereditary hemochromatosis (HH) is linked to cardiac complications.
- Diastolic dysfunction is a known cardiac manifestation in HH patients.
- Early detection of cardiac changes in asymptomatic HH is crucial.
Purpose of the Study:
- To investigate left ventricular (LV) diastolic function in asymptomatic individuals with HH.
- To identify early echocardiographic markers of cardiac involvement in HH.
Main Methods:
- Echocardiography with comprehensive diastolic evaluations was performed.
- Forty-three asymptomatic HH patients (C282Y homozygosity) and 21 controls were studied.
- Patients were categorized into newly diagnosed and chronically treated groups.
Main Results:
- No significant Doppler left ventricular relaxation abnormalities were found in HH groups.
- Augmented atrial contractile function was observed in HH subjects compared to controls.
- Overall left ventricular systolic function remained preserved in all HH groups.
Conclusions:
- Augmented atrial contraction may be an early echocardiographic sign of diastolic dysfunction in asymptomatic HH.
- This finding could indicate subclinical left ventricular relaxation abnormalities.
- Early cardiac screening in HH is warranted.
Abstract:
Patients with hereditary hemochromatosis (HH) have been reported to develop diastolic functional abnormalities detectable by echocardiography, but it is unknown whether these occur in asymptomatic subjects. Thus, this study tested whether echocardiographic left ventricular (LV) relaxation abnormalities are detectable in subjects with asymptomatic HH. Forty-three asymptomatic subjects with HH (C282Y homozygosity in the HFE gene) and 21 age- and gender-matched control subjects without known HFE mutations underwent echocardiography with comprehensive diastolic functional evaluations. Subjects with HH were in New York Heart Association functional class I and consisted of 22 newly diagnosed patients (group A) and 21 chronically phlebotomized subjects with stable iron levels (group B). Group A subjects showed significant iron overload compared with group B subjects and controls (group C) (ferritin 1,164 +/- 886 [p <0.05 vs groups B and C], 128 +/- 262, and 98 +/- 76 microg/L and transferrin saturation 79 +/- 19% [p <0.05 vs groups B and C], 42 +/- 21%, and 26 +/- 10% for groups A, B, and C, respectively). Echocardiographic evaluation revealed (1) no statistically significant abnormalities of Doppler LV relaxation in HH groups; (2) significant augmentation of atrial contractile function in subjects with HH compared with controls, which was not correlated with iron levels and treatment status; and (3) the preservation of overall LV systolic function in HH groups. In conclusion, the results of this study suggest that the augmentation of atrial contraction appears to be an early detectable echocardiographic cardiac manifestation of abnormal diastolic function in asymptomatic subjects with HH, which may reflect undetectable subclinical LV relaxation abnormalities.
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