Is there a Role for Genetics in Cardiac Calcification?

Urban Hellman, Stellan Mörner, Michael Henein


Calcific coronary artery disease (CCAD) may cause abnormal myocardial perfusion and hence generalized ischaemia, despite potential discrepancy in its expression pattern compared to the well-known atherosclerotic disease which raises questions about the exact pathophysiology of coronary calcification and whether there is a genetic aetiology for it.  In a pilot study we studied three candidate genes, ENPP1, ABCC6 and NTE5 which may predispose to coronary arterial or valvular calcification. We studied 65 patients with CCAD and 5 patients with calcific aortic valve disease (CAVD).  Five DNA variants potentially affecting protein function were found in six patients. Our findings support genetic variants might influence the development of CCAD and CAVD, however, segregation in the families must first be performed to ascertain any damaging effect of these variants. The search for direct causative genetic variants in coronary artery and aortic valve calcification must be broadened with other genes.


Arterial calcification; gene; coronary artery disease

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Copyright (c) 2019 Urban Hellman, Stellan Mörner, Michael Henein

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