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HFE mutations in idiopathic dilated cardiomyopathy
Andreas Erhardt1, Claudia Mellenthin, Christian Perings
1Department of Gastroenterology, Hepatology and Infectiology, Heinrich Heine University Duesseldorf, Germany. Erhardt@uni-duesseldorf.de
Insights
Mutations in the hemochromatosis (HFE) gene were more common in patients with idiopathic dilated cardiomyopathy (IDCM). Screening IDCM patients for iron parameters is recommended due to increased HFE gene mutations.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Dilated cardiomyopathy (DCM) is a known complication of hereditary hemochromatosis (HH).
- The role of hemochromatosis (HFE) gene mutations in idiopathic dilated cardiomyopathy (IDCM) requires further investigation.
Purpose of the Study:
- To determine if HFE gene mutations are a cause or modifying factor in IDCM.
- To assess the prevalence of HFE mutations in IDCM patients compared to healthy controls.
Main Methods:
- Genetic analysis of the HFE gene in 46 IDCM patients and 350 controls.
- Clinical and biochemical assessments of all participants.
- Cardiomyopathy diagnosis based on established angiographic criteria.
Main Results:
- C282Y homozygosity was significantly higher in IDCM patients (4.3%) than controls (0.6%).
- 6.5% of IDCM patients had disease-predisposing HFE genotypes (C282Y homozygotes or compound heterozygotes).
- No significant differences in cardiac function or iron levels were observed between HFE carriers and non-carriers.
Conclusions:
- Increased prevalence of disease-predisposing HFE gene mutations in IDCM suggests a potential link.
- Screening IDCM patients for iron parameters is warranted.
- The exact contribution of iron or immune factors to IDCM pathogenesis remains uncertain.
Background And Purpose:
Dilated cardiomyopathy is a typical complication of hereditary hemochromatosis (HH). The present study investigated, whether mutations of the hemochromatosis (HFE) gene might be etiologic and disease-modifying factors in idiopathic dilated cardiomyopathy
Patients And Methods:
Clinical and biochemical assessment and HFE gene analysis were perfomed in 46 patients with IDCM and 350 healthy controls. Cardiomyopathy was angiographically defined according to the criteria of the Collaborative Research Group of the European Human and Capital Mobility Project of Familial Dilated Cardiomyopathy.
Results:
A higher prevalence of C282Y homozygosity was found among patients with IDCM compared to healthy subjects (4.3% vs. 0.6%; p < 0.02). A total of 6.5% of the patients with IDCM were either C282Y homozygotes or C282Y/H63D compound heterozygotes. The C282Y allele frequency was somewhat higher among patients with IDCM (8.7%) compared to healthy controls (5.4%; p < 0.2), whereas the H63D allele frequency was not increased. No significant differences of serum iron, ferritin or transferrin saturation, cardiac iron loading, NYHA classification, Lown's classification, the history of cardiopulmonary resuscitation, LVEDD (left ventricular end-diastolic diameter), EF (ejection fraction), LADD (left atrial end-diastolic diameter) and CI (cardiac index) were seen between HFE carriers and noncarriers.
Conclusion:
The present study indicates that it is worth screening patients with IDCM for iron parameters given the increased prevalence of disease-predisposing HFE constellations. It remains unclear, to what extent iron or immune-mediated processes contribute to the pathomechanism of IDCM.
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