
pmc: PMC12596160 , PMC12711277
handle: 10281/595913 , 10281/595922 , 10281/595909
Abstract Calmodulinopathies are very rare genetic disorders associated with a high risk for sudden cardiac death. Disease-causing variants in 1 of the 3 identical CALM genes cause severe forms of long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, or idiopathic ventricular fibrillation, and there are many unanswered questions concerning management and underlying mechanisms. What is currently known depends largely on the initial publications from the ICamR (International Calmodulinopathy Registry). However, progress is delayed because the accrual of patients in ICamR is slow. As we did long ago for long QT syndrome, this is a call for action, requesting doctors all over the world to enroll even their isolated cases in the Registry. This is the only way to obtain, for an adequate number of patients, the data necessary to define the spectrum of clinical manifestations and the genotype-phenotype correlation essential for an improved risk stratification and best therapeutic management. If you are willing to contribute, please contact us.
Calmodulinopathy, arrhythmias, cardiac; calmodulin; ion channels; long QT syndrome; rare diseases; sudden cardiac death; sympathetic denervation;, Risk Assessment, Viewpoints, Long QT Syndrome, Death, Sudden, Cardiac, Phenotype, Calmodulin, Risk Factors, Ventricular Fibrillation, Tachycardia, Ventricular, Humans, Calmodulinopathies; Channelopathies; Genetics; Long QT Syndrome; Registries; Sudden cardiac death;, Genetic Predisposition to Disease, Registries, Polymorphic Catecholaminergic Ventricular Tachycardia, Rapid Communication
Calmodulinopathy, arrhythmias, cardiac; calmodulin; ion channels; long QT syndrome; rare diseases; sudden cardiac death; sympathetic denervation;, Risk Assessment, Viewpoints, Long QT Syndrome, Death, Sudden, Cardiac, Phenotype, Calmodulin, Risk Factors, Ventricular Fibrillation, Tachycardia, Ventricular, Humans, Calmodulinopathies; Channelopathies; Genetics; Long QT Syndrome; Registries; Sudden cardiac death;, Genetic Predisposition to Disease, Registries, Polymorphic Catecholaminergic Ventricular Tachycardia, Rapid Communication
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