Key result
Rare ANK2 variant linked to massive idiopathic myocardial calcification.
Why the study?
Massive myocardial calcification is a rare condition with unclear diagnosis and therapy, and its association with ANK2 mutations has not been described.
Case Report (n=1)
No change to clinical evaluation of myocardial calcification; hypothesis-generating for ANK2 variants beyond arrhythmia risk.
Massive myocardial calcification is a rare condition for which both diagnosis and therapy are not clearly established in the literature. Although imaging features are often nonspecific, the combination of imaging pattern and clinical history may help determine the clinical implications of myocardial calcification. Here, we report a case of massive idiopathic calcification associated with a rare heterozygous ANK2 mutation of uncertain significance. Mutations in ANK2 are linked to abnormal regulation of intracellular sodium and calcium, predisposing patients to arrhythmias, but there is no description of myocardial calcification.
No takes yet. Share an insight, caveat, or question.
Rodrigues et al. (2022) conducted a case report in Massive idiopathic myocardial calcification (n=1). Heterozygous ANK2 mutation was evaluated on Massive myocardial calcification. A rare heterozygous ANK2 mutation of uncertain significance was associated with massive idiopathic myocardial calcification in a single patient.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: