Key result
Homozygous H63D HFE gene mutation (hemochromatosis) was associated with left ventricular hypertrabeculation/non-compaction and polyneuropathy in a 54-year-old female.
This case report suggests a potential novel association between left ventricular non-compaction, hemochromatosis, and polyneuropathy.
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Hypothesis-generating from one case; leaves open any causal role for HFE mutations in LV non-compaction or polyneuropathy.
Left ventricular hypertrabeculation/non-compaction (LVHT) is a cardiac abnormality that is increasingly reported with an association to several genetic disorders. We report an association of LVHT with genetically confirmed hemochromatosis and polyneuropathy in a 54-year old Caucasian female.
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Stöllberger et al. (2011) studied this question. Homozygous H63D HFE gene mutation (hemochromatosis) was associated with left ventricular hypertrabeculation/non-compaction and polyneuropathy in a 54-year-old female.
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