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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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Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
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Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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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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Related Experiment Video

Updated: Sep 14, 2025

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Variant-Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA-Related Cardiomyopathy.

Matteo Castrichini1, Ramin Garmany2,3, Konstantinos C Siontis1

  • 1Department of Cardiovascular Medicine Mayo Clinic Rochester MN USA.

Journal of the American Heart Association
|July 21, 2025
PubMed
Summary

LMNA variants causing genetic cardiomyopathy show distinct patterns on cardiac MRI. Variants in the IgD domain are linked to a "pseudo-infarct" pattern, increasing risks for arrhythmias and clots but decreasing risks for AV block and AFib.

Keywords:
arrhythmogenic cardiomyopathygenotype–phenotype correlationlaminopathy

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Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Lamin A/C (LMNA) variants cause genetic cardiomyopathy with arrhythmias and dysfunction.
  • The impact of LMNA variant type and location on cardiac magnetic resonance imaging (MRI) findings and clinical outcomes is not well understood.

Purpose of the Study:

  • To investigate the relationship between LMNA variant type/localization, late gadolinium enhancement (LGE) patterns on cardiac MRI, and clinical outcomes in patients with arrhythmogenic/dilated cardiomyopathy.

Main Methods:

  • Retrospective analysis of 822 patients with LMNA variants.
  • Cardiac MRI data, including LGE distribution, were analyzed.
  • Clinical outcomes such as heart failure, thromboembolic events, and sudden cardiac death were assessed based on variant type and localization.

Main Results:

  • Among 72 patients with cardiac MRI, 56% showed LGE, predominantly nonischemic midmyocardial/subepicardial patterns.
  • A unique "pseudo-infarct" transmural LGE pattern was observed in 15% of cases, exclusively in patients with C-terminal IgD (immunoglobulin-like domain) variants.
  • IgD variants were associated with lower rates of atrioventricular block and atrial fibrillation but higher rates of thromboembolic events and predicted sudden cardiac death/major ventricular arrhythmias.

Conclusions:

  • LMNA missense variants in the IgD domain are associated with a distinct apical "pseudo-infarct" LGE pattern.
  • This pattern correlates with an increased risk of ventricular arrhythmias and thromboembolic events, alongside a reduced risk of atrioventricular block and atrial fibrillation.
  • Variant-specific risk stratification strategies are needed for improved management of cardiac laminopathy.