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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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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, Via Pier Lombardo, 22 Milano 20135, Italy.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology
|November 8, 2025
PubMed
Summary
This summary is machine-generated.

Calmodulinopathies are rare genetic heart disorders with high sudden cardiac death risk. Enrolling patients in the International Calmodulinopathy Registry (ICamR) is crucial for understanding disease mechanisms and improving patient management.

Keywords:
CalmodulinopathiesChannelopathiesGeneticsLong QT SyndromeRegistriesSudden cardiac death

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Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Calmodulinopathies are rare genetic disorders linked to sudden cardiac death.
  • They cause severe long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation.
  • Current knowledge relies on limited data from the International Calmodulinopathy Registry (ICamR).

Purpose of the Study:

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

Main Methods:

  • A global call for physician participation in the International Calmodulinopathy Registry (ICamR).
  • Encouraging enrollment of all calmodulinopathy cases, including isolated instances.
  • Leveraging existing expertise from long QT syndrome research initiatives.

Main Results:

  • Patient accrual in the ICamR is currently insufficient for robust analysis.
  • Limited data hinders the definition of the full clinical spectrum and genotype-phenotype correlations.
  • Progress in understanding and managing calmodulinopathies is significantly delayed.

Conclusions:

  • Increased patient enrollment in the ICamR is urgently needed.
  • Expanded registry data is essential for advancing calmodulinopathy research.
  • Collaborative global efforts are required to improve patient outcomes.