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Pull-down of Calmodulin-binding Proteins
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Calmodulinopathies: The Need for a Registry

Peter J Schwartz1, Lia Crotti1,2

  • 1Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Istituto Auxologico Italiano IRCCS, Milan, Italy (P.J.S., L.C.).

Circulation. Genomic and Precision Medicine
|November 5, 2025
PubMed

Insights

Calmodulinopathies are rare genetic heart disorders linked to sudden cardiac death. Increased patient enrollment in the International Calmodulinopathy Registry is crucial for understanding disease mechanisms and improving patient care.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Calmodulinopathies are rare genetic disorders with a high risk of sudden cardiac death.
  • Disease-causing variants in CALM genes lead to severe arrhythmias like long QT syndrome and catecholaminergic polymorphic ventricular tachycardia.
  • Current knowledge relies on limited data from the International Calmodulinopathy Registry, hindering progress.

Purpose of the Study:

  • To address the slow patient accrual in the International Calmodulinopathy Registry.
  • To gather sufficient data for comprehensive genotype-phenotype correlation in calmodulinopathies.
  • To improve risk stratification and therapeutic management strategies for patients.

Main Methods:

  • A call to action for global physician participation in the International Calmodulinopathy Registry.
  • Encouraging the enrollment of all cases, including isolated instances, into the registry.
  • Leveraging registry data to define the clinical spectrum and genotype-phenotype relationships.

Main Results:

  • The current data pool is insufficient for detailed analysis due to slow patient accrual.
  • Limited understanding of the full spectrum of clinical manifestations and genotype-phenotype correlations.
  • Delayed progress in defining optimal risk stratification and therapeutic management.

Conclusions:

  • Increased global physician participation in the International Calmodulinopathy Registry is essential.
  • Comprehensive patient data is necessary to advance the understanding and management of calmodulinopathies.
  • Collaborative efforts are vital for improving outcomes in these rare genetic heart conditions.

Keywords:
arrhythmias, cardiaccalmodulinion channelslong QT syndromerare diseasessudden cardiac deathsympathetic denervation

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