Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario.

doi:10.1136/bcr-2020-235650

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Article

Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario.

BMJ case reports - 16 Sept 2020

Goyal Abhishek, Mohan Bishav, Saggar Kavita, Wander Gurpreet Singh

Abstract excerpt

Primary haemochromatosis (PH) is a genetic disorder of iron metabolism with multiorgan involvement due to mutations in HFE or more rarely haemojuvelin (HJV) gene. Cardiac involvement results in dilated cardiomyopathy with reduced ejection fraction and progressive heart failure. PH is rarely reported from India and cardiomyopathy due to PH from HJV mutations is thought to be uncommon. We report two families with...

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PMID: 32938653
DOI: 10.1136/bcr-2020-235650
PMCID: PMC7497139

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