Related Experiment Video
Updated: Feb 25, 2026
10:21
Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
Published on: June 14, 2016
10.7K
Elevated Myocardial Extracellular Volume Fraction in Duchenne Muscular Dystrophy
James J Starc1, Ryan A Moore2, Mantosh S Rattan3
1Division of Pediatric Cardiology, Mount Sinai Medical Center, One Gustave L. Levy Place, Post Box 1201, New York, NY, 10029, USA. james.starc@mssm.edu.
Pediatric Cardiology
|August 2, 2017
Summary
Duchenne muscular dystrophy (DMD) patients show higher myocardial fibrosis (ECV) than controls, detected via cardiovascular magnetic resonance (CMR). This ECV marker correlates with impaired heart function, aiding early cardiac involvement detection in DMD.
Area of Science:
- Cardiology
- Genetics
- Biomedical Imaging
Background:
- Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder associated with life-threatening cardiomyopathy.
- Myocardial fibrosis is a key feature of DMD cardiomyopathy, leading to heart failure and arrhythmias.
- Early detection of cardiac involvement in DMD is crucial for improved patient outcomes.
Purpose of the Study:
- To quantify myocardial extracellular volume (ECV) in pediatric patients with DMD using cardiovascular magnetic resonance (CMR) T1 mapping.
- To correlate ECV measurements with left ventricular (LV) function metrics in DMD patients.
- To assess the utility of ECV as a non-invasive marker for cardiac involvement in DMD.
Main Methods:
- Retrospective analysis of CMR data from 47 pediatric DMD patients.
- Quantification of global myocardial ECV using T1 mapping.
- Correlation analysis between ECV and LV function parameters (ejection fraction, end-diastolic volume) and late gadolinium enhancement (LGE).
Main Results:
- Pediatric DMD patients exhibited significantly higher global myocardial ECV (29 ± 6%) compared to published normal values (24 ± 2%).
- Elevated ECV levels correlated with reduced left ventricular ejection fraction (r = -0.46) and increased indexed LV end-diastolic volume (r = 0.41).
- No significant difference in ECV was observed between DMD patients with and without LGE (p=0.0717).
Conclusions:
- CMR T1 mapping is a feasible method for ECV quantification in DMD patients.
- Global myocardial ECV is elevated in pediatric DMD and correlates with impaired LV function.
- ECV serves as a valuable non-invasive tool for assessing cardiac involvement and guiding management in DMD.
Keywords:
Duchenne muscular dystrophy cardiomyopathyHeart failureLate gadolinium enhancementMagnetic resonance imagingMyocardial fibrosisMore Related Videos
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
555
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...
555
01:30Cardiomyopathy II: Dilated Cardiomyopathy
649
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,...
649
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
648
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...
648
01:21Satellite Stem Cells and Muscular Dystrophy
2.4K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.4K
01:26Imbalances in Cardiac Output
3.3K
The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...
3.3K
01:29Heart Failure II: Pathophysiology
1.1K
Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
1.1K