Cardiac valve involvement in ADAR-related type I interferonopathy

The contribution of inflammation to inherited neurological diseases is not well understood. One subgroup of neurological diseases is caused by abnormalities of chemicals known as Type I interferons. We report for the first time heart valve calcification in three children that occurred as a complication of Type I interferon-associated neurodisability caused by mutations in the gene ADAR. Progression of heart valve calcification in these children led to heart failure in two cases and death in one. High interferon levels were detected in one of these patients, confirming that this type of inflammation may play a significant role in this disease. (Dr Nandaki Keshavan, https://jmg.bmj.com/content/early/2019/11/26/jmedgenet-2019-106457 )

Figure 1. Echocardiogram and CT imaging. Images are annotated with a red asterisk to indicate the position of calcifications.

1A Four-chamber view demonstrating mitral valve calcification in patient 1

1B Doppler echocardiogram demonstrating severe mitral regurgitation in patient 1

1C Long axis view demonstrating aortic valve calcification in patient 1

1D Short axis view demonstrating calcification of non-coronary and left coronary cusps of the aortic valve in patient 1

1E Four-chamber view demonstrating mitral valve calcification in patient 2

1F Doppler echocardiogram demonstrating mild mitral regurgitation in patient 2

1G Computed tomography (CT) imaging demonstrating mitral valve calcification in patient 3

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