Calmodulin variants are associated with significant clinical phenotypes, particularly an increased risk for life-threatening arrhythmias, requiring deep phenotypic registry data to guide management.
This review summarizes current knowledge on calmodulinopathies, their association with life-threatening arrhythmias, and insights from the International Calmodulinopathy Registry to guide clinical management.
variants are poorly tolerated and accompany significant clinical phenotypes, of which the most important are those associated with increased risk for life-threatening arrhythmias. Here, we review the current knowledge about calmodulin, its specific physiological, structural, and functional characteristics, and its importance for cardiovascular disease. Given our role in the development of this knowledge, we also share some of our views about currently unanswered questions, including the rational approaches to the clinical management of the affected patients. Specifically, we present some of the most critical information emerging from the International Calmodulinopathy Registry, which we established 10 years ago. Further progress clearly requires deep phenotypic information on as many carriers as possible through international contributions to the registry, in order to expand our knowledge about Calmodulinopathies and guide clinical management.
Schwartz et al. (Mon,) conducted a review in Calmodulinopathies. Calmodulin variants are associated with significant clinical phenotypes, particularly an increased risk for life-threatening arrhythmias, requiring deep phenotypic registry data to guide management.
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