Rare Pulmonology News

Disease Profile

Dilated cardiomyopathy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

DCM; Idiopathic dilated cardiomyopathy

Categories

Congenital and Genetic Diseases; Heart Diseases

Summary

Dilated cardiomyopathy (DCM) is a disease of the heart muscle which primarily affects the heart's main pumping chamber, the left ventricle.[1] It is the most common type of cardiomyopathy and typically affects those aged 20 to 60.[2] The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can. The heart muscle also has difficulty contracting normally, which can lead to irregular heartbeats (arrhythmia), blood clots, or sudden death.[1][2] Over time, the heart becomes weaker and heart failure can occur.[2] While the cause of dilated cardiomyopathy is often unknown (idiopathic), some cases are acquired and roughly half are inherited or familial.[1][2] Also, DCM can be a feature of many genetic syndromes.[3] Familial dilated cardiomyopathy is most often inherited in an autosomal dominant pattern. Familial dilated cardiomyopathy is caused by mutations in several different genes, most commonly in the TTN gene (found in about 20% of cases).[3][4] DCM treatment may include medication, pacemakersimplantable cardiac defibrillators, or heart transplantation.[3]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MayoClinic.com provides information about dilated cardiomyopathy. Click on the above link to access this information.
        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
        • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Dilated cardiomyopathy in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Dilated cardiomyopathy. Click on the link to view a sample search on this topic.

            References

            1. Dilated cardiomyopathy. MayClinic.com. August 19, 2014; https://www.mayoclinic.com/print/dilated-cardiomyopathy/DS01029/METHOD=print&DSECTION=all.
            2. Types of Cardiomyopathy. National Heart, Lung and Blood Institute (NHLBI). June 22, 2016; https://www.nhlbi.nih.gov/health/health-topics/topics/cm/types.
            3. Hershberger RE & Morales A. Dilated Cardiomyopathy Overview. GeneReviews. September 24, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1309/.
            4. Familial dilated cardiomyopathy. Genetics Home Reference. December 2013; https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy.