Calmodulinopathies: The Need for a Registry

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 long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation.
• Current knowledge relies on limited data from the International Calmodulinopathy Registry (ICamR), hindering progress.

Purpose of the Study:

• To address the slow patient accrual in the ICamR.
• To call for global physician participation in enrolling patients, including isolated cases.
• To gather sufficient data for comprehensive genotype-phenotype correlation and improved risk stratification.

Main Methods:

• A call to action for physicians worldwide to contribute patient data to the ICamR.
• Leveraging existing knowledge from prior initiatives for long QT syndrome.
• Establishing a collaborative registry for rare cardiac genetic disorders.

Main Results:

• The current patient accrual in ICamR is insufficient for robust scientific inquiry.
• A significant gap exists in understanding the full clinical spectrum and genotype-phenotype correlations.
• Improved data collection is essential for advancing the management of calmodulinopathies.

Conclusions:

• Increased patient enrollment in the ICamR is urgently needed.
• Comprehensive data is vital for defining disease manifestations and guiding therapeutic strategies.
• Global collaboration is key to advancing research in rare cardiac channelopathies like calmodulinopathies.