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Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
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Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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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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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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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
Summary
This summary is machine-generated.

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.

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

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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.