Dilated cardiomyopathy 3B
- Synonyms
- CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy; DMD-Associated Dilated Cardiomyopathy; DMD-Related Dilated Cardiomyopathy
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Basil T Darras
- David K Urion
- Partha S Ghosh
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Increased circulating creatine kinase MB isoform
Increased circulating creatine kinase MB isoform
- MedGen UID: 1690106
- Concept ID: C5139211
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating creatine kinase MB isoform
- Abnormality of the cardiovascular system
- Increased left ventricular end-diastolic volume
Increased left ventricular end-diastolic volume
- MedGen UID: 1660169
- Concept ID: C4748648
- Finding: Finding
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Increased left ventricular end-diastolic volume
- Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022
- ACMG ACT, 2020American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019
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