Rare Oncology News

Disease Profile

Left ventricular noncompaction

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

All ages

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ICD-10

I42.8

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)

LVNC; Spongy myocardium; Left ventricular hypertrabeculation

Categories

Congenital and Genetic Diseases; Heart Diseases

Summary

Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. In rare cases, heart transplantation is needed.[1]

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

    Treatment

    There are no specific treatment guidelines for left ventricular noncompaction (LVNC). Medical management varies depending on clinical manifestations, left ventricular ejection fraction (LVEF), the presence or absence of arrhythmias, and the risk of thromboembolism.

    Depending on the above factors, treatment might include: medications including diureticsACE inhibitors or Angiotensin II Receptor Blockers (ARBs), anticoagulants, and beta-blockers; an implantable cardioverter-defibrillator (ICD) or a pacemaker if an arrhythmia is present; and cardiac transplantation.[2][3][4]

    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

      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

        General Information

        • The Children's Cardiomyopathy Foundation has a Web page on cardiomyopathy, which includes information on left ventricular noncompaction. Click on Children's Cardiomyopathy Foundation to view the page.

          In-Depth Information

          • 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.
          • 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 Left ventricular noncompaction. Click on the link to view a sample search on this topic.

            References

            1. Left ventricular noncompaction. Stanford Center for Inherited Cardiovascular Disease. http:/familyheart.stanford.edu/clinics/noncomp1.html. Accessed 12/27/2013.
            2. Heidi M Connolly, Christine H Attenhofer-Jost. Isolated left ventricular noncompaction. UpToDate. April 2016; https://www.uptodate.com/contents/isolated-left-ventricular-noncompaction#H19.
            3. Treatment. CardiomyopathyUK. https://www.cardiomyopathy.org/left-ventricular-noncompaction/treatment-7. Accessed 5/26/2016.
            4. Bennett CE, Freudenberger R. The Current Approach to Diagnosis and Management of Left Ventricular Noncompaction Cardiomyopathy: Review of the Literature. Cardiology Research and Practice.. Jan 2016; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737020.

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