Hypertrophic Cardiomyopathy Screening

Hypertrophic cardiomyopathy is a genetic condition in which the heart fails to pump normally due to the muscular walls of the ventricles becoming abnormally thickened and stiff.

Image Credit: Image Point Fr / Shutterstock
Image Credit: Image Point Fr / Shutterstock

The thickening reduces space within the ventricles, which are less able to completely fill with blood and pump it around the body properly. This can lead to angina, shortness of breath, lightheadedness and fainting. Hypertrophic cardiomyopathy is a very common condition and affects about 1 in 500 people in the UK.

Many people with this condition do not develop symptoms and can lead a normal life. However, in some cases, problems develop that significantly impact on daily living and even increase the risk of sudden cardiac death. The condition may cause atrial fibrillation, reduced blood flow from the heart and a leaky mitral valve that enables blood to pass back into the atria from the ventricles. Hypertrophic cardiomyopathy is the most common cause of sudden death in young people.

Hypertrophic Cardiomyopathy and Genetics

Screening

Since hypertrophic cardiomyopathy is a hereditary condition and runs in families, a doctor is likely to suggest screening if an individual reports having a first-degree relative with the condition. Hypertrophic cardiomyopathy is inherited in an autosomal dominant pattern, meaning that each child born to a parent who has the condition is at a 50% risk of also developing it. The screening may involve genetic tests and/or an echocardiography.

Genetic screening may not provide a conclusive answer because experts are not yet fully clear about how the genetics of this condition work. The mutation is only detectable in around half of families with the condition. For this reason, healthcare insurance may not cover this form of screening.

On the other hand, if genetic testing does reveal a gene mutation, a doctor may want to screen the parents, children or siblings of the patient to check whether they have also inherited the mutation and are at risk of developing the condition. The sooner this condition is diagnosed, the earlier treatment can begin to relieve symptoms and reduce the risk of dangerous heart rhythm abnormalities (arrhythmias) and sudden cardiac arrest.

If a patient who has a first-degree relative with the condition does not have genetic screening or if the test results are not definitive, then echocardiography may be advised. This test uses ultrasound waves passed through the heart structure to visualize the heart’s pumping action and see whether there is muscle thickening, obstructed blood flow or abnormal movement of the mitral valve. Adolescents and people who engage in athletic activities should be screened annually and screening once every five years is adequate for adults who are not athletes.

References

  1. http://www.nhs.uk/conditions/cardiomyopathy/Pages/Introduction.aspx
  2. https://www.cardiomyopathy.org/
  3. http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/home/ovc-20122102
  4. https://www.bhf.org.uk/

Further Reading

Last Updated: Dec 29, 2022

Sally Robertson

Written by

Sally Robertson

Sally first developed an interest in medical communications when she took on the role of Journal Development Editor for BioMed Central (BMC), after having graduated with a degree in biomedical science from Greenwich University.

Citations

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Robertson, Sally. (2022, December 29). Hypertrophic Cardiomyopathy Screening. News-Medical. Retrieved on June 15, 2024 from https://www.news-medical.net/health/Hypertrophic-Cardiomyopathy-Screening.aspx.

  • MLA

    Robertson, Sally. "Hypertrophic Cardiomyopathy Screening". News-Medical. 15 June 2024. <https://www.news-medical.net/health/Hypertrophic-Cardiomyopathy-Screening.aspx>.

  • Chicago

    Robertson, Sally. "Hypertrophic Cardiomyopathy Screening". News-Medical. https://www.news-medical.net/health/Hypertrophic-Cardiomyopathy-Screening.aspx. (accessed June 15, 2024).

  • Harvard

    Robertson, Sally. 2022. Hypertrophic Cardiomyopathy Screening. News-Medical, viewed 15 June 2024, https://www.news-medical.net/health/Hypertrophic-Cardiomyopathy-Screening.aspx.

Comments

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
Post a new comment
Post

While we only use edited and approved content for Azthena answers, it may on occasions provide incorrect responses. Please confirm any data provided with the related suppliers or authors. We do not provide medical advice, if you search for medical information you must always consult a medical professional before acting on any information provided.

Your questions, but not your email details will be shared with OpenAI and retained for 30 days in accordance with their privacy principles.

Please do not ask questions that use sensitive or confidential information.

Read the full Terms & Conditions.

You might also like...
Facial temperature can predict heart disease with higher accuracy than current methods