Related Experiment Video

Updated: May 5, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

11.6K

Enhancement of the Mayo Clinic HCM Genotype Predictor Score with Addition of Cardiac Magnetic Resonance Imaging

Iuri Ferreira Felix1, Vanessa Karlinski Vizentin2, Mateo Alzate-Aguirre2

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

Journal of Cardiovascular Translational Research
|July 23, 2025
PubMed

Insights

Cardiac magnetic resonance (CMR) enhances the Hypertrophic Cardiomyopathy (HCM) Genotype Predictor Score. Adding late gadolinium enhancement (LGE) to the score significantly improves genetic testing accuracy in HCM patients.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Hypertrophic Cardiomyopathy (HCM) is a genetic heart condition.
  • Genetic testing is crucial for HCM diagnosis and risk stratification.
  • The Mayo Clinic Hypertrophic Cardiomyopathy Genotype Predictor Score aids genetic testing.

Purpose of the Study:

  • To evaluate the role of cardiac magnetic resonance (CMR) in updating the Mayo Clinic HCM Genotype Predictor Score.
  • To assess if incorporating CMR findings improves the score's accuracy in predicting positive genetic test results.

Main Methods:

  • Analysis of 175 HCM patients with echocardiogram, CMR, and genetic test data (2004-2018).
  • Comparison of the original echocardiogram-based score with an updated score including late gadolinium enhancement (LGE) on CMR.
  • Statistical analysis to determine the predictive value and diagnostic accuracy of both scores.

Main Results:

  • The original score showed a positive genetic test yield from 38% to 100% (AUC 0.659).
  • Late gadolinium enhancement (LGE) on CMR was a significant predictor of positive genetic results (p=0.002).
  • The updated score, including LGE, demonstrated improved yield (25% to 100%, p<0.001) and AUC (0.724), with increased diagnostic accuracy (p=0.03).

Conclusions:

  • Cardiac magnetic resonance (CMR) findings, specifically late gadolinium enhancement (LGE), significantly improve the accuracy of the Hypertrophic Cardiomyopathy (HCM) Genotype Predictor Score.
  • The updated score offers enhanced diagnostic utility for genetic testing in HCM patients.
  • CMR integration represents a valuable advancement in HCM genetic risk assessment.

Keywords:
Cardiac magnetic resonanceGenetic testingGenotype predictorHypertrophic cardiomyopathy

More Related Videos

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice12:12

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice

Published on: February 14, 2017

16.2K
Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model06:08

Assessment of Chimeric Antigen Receptor T Cell-Associated Toxicities Using an Acute Lymphoblastic Leukemia Patient-Derived Xenograft Mouse Model

Published on: February 10, 2023

1.5K

Related Concept Videos

Imaging Studies for Cardiovascular System IV: CMRI01:21

Imaging Studies for Cardiovascular System IV: CMRI

Cardiovascular magnetic resonance imaging, or CMRI, is a non-invasive diagnostic test that employs a magnetic field and radiofrequency waves to create precise images of the heart and arteries. It provides comprehensive information about cardiac anatomy, function, perfusion, and tissue characterization without ionizing radiation.IndicationsCMRI diagnoses various heart conditions, including tissue damage from heart attacks, ischemic heart disease, myocarditis, aortic issues (tears, aneurysms,...
541
Imaging Studies for Cardiovascular System V: CT01:28

Imaging Studies for Cardiovascular System V: CT

Cardiac computed tomography (CT) scanning is an advanced cardiac imaging technique that utilizes CT technology, with or without intravenous (IV) contrast, to produce accurate cross-sectional virtual slices of specific areas of the heart, coronary circulation, and major blood vessels such as the aorta, pulmonary veins, and arteries. The computer processes these slices to generate three-dimensional images. Multidetector CT (MDCT) is a rapid form of CT scanning that captures multiple slices...
671
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT01:25

Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT

Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
973
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
805
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
753