Hypertrophic cardiomyopathy screening

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Hypertrophic cardiomyopathy screening
Listening to the heart: part of screening
PurposeDetect and prevent sudden cardiac death, reduce complications of hypertrophic cardiomyopathy[1]

Hypertrophic cardiomyopathy screening is an assessment and testing to detect hypertrophic cardiomyopathy (HCM).[1][2]

It is a way of identifying HCM in immediate relatives of family members diagnosed with HCM, and athletes as part of a sports medical.[3] It aims to detect HCM early, so that interventions can be commenced to prevent complications and sudden cardiac death.[4]


HCM is a heart disease in which a portion of the heart becomes thickened without an obvious cause.[5] It affects up to one in 200 people and runs in families.[5] A significant number of people with the condition have no symptoms.[5] Screening is a way of identifying HCM in immediate relatives of family members diagnosed with hypertrophic cardiomyopathy (HCM), and athletes as part of a sports medical.[2] Additional tests may also be performed in those who faint or have exertional chest pain.[2] It aims to detect HCM early, so that interventions can be commenced to prevent complications and sudden cardiac death.[1][4]


Generally, screening may be considered for anyone of any age with a family history of HCM or sudden death.[1] Screening includes at first a history of symptoms or family member with HCM, and a physical examination which may reveal a heart murmur or fourth heart sound.[1] Initial tests include an ECG and 24-hour ambulatory ECG.[1][6] Other tests include echocardiogram, genetic testing and cardiac MRI.[4]

The American Heart Association have developed a 14-point evaluation for competitive athletes, which it recommends for screening healthy teenagers and young adults.[4]

Pre-participation Screening

In a few well-trained athletes, the normal 10% to 20% increase in left ventricular wall thickness may make it less easy to differentiate an athletic heart from HCM.[4] In HCM, the 12-lead ECG typically shows T wave inversion, ST depression and prominent Q waves, unlike the isolated LVH signs of a normal athletic heart.[4] The ventricular cavity in athletes may also be 10% to 15% greater than in comparable non-athletes.[3]

Particularly for black athletes, some of their ECG characteristics are more likely to cross over with those seen in HCM.[3] If interpreted incorrectly, it has the possibility of leading to being wrongly reassured or even incorrectly diagnosed with HCM leading to being unfairly disqualified.[3] Limited studies mean it is unclear what structural adaptations occur in the hearts of other ethnicities.[3] Limited literature on screening Arab and African male athletes shows a high false positive rate; that is the tests indicate they have the disease when they don't.[7]

Global variation

HCM has traditionally been of greater interest in Europe, North America, Japan, Israel, and Australia.[8]

Research directions

As of 2020, research on heart adaptations in females, teenagers and Asian populations is required.[3]


  1. 1.0 1.1 1.2 1.3 1.4 1.5 Pydah, Sunayana C.; Mauck, Kimberlee; Shultis, Chelsea; Rolfs, Jenna; Schmidt, Eric; Nicholas, Joyce (October 2021). "Screening for hypertrophic cardiomyopathy". JAAPA. 34 (10): 23–27. doi:10.1097/01.JAA.0000791464.54226.d8. ISSN 1547-1896. PMID 34582381. S2CID 238217008.
  2. 2.0 2.1 2.2 Ommen, Steve R.; Mital, Seema; Burke, Michael A.; Day, Sharlene M.; Deswal, Anita; Elliott, Perry; Evanovich, Lauren L.; Hung, Judy; Joglar, José A.; Kantor, Paul; Kimmelstiel, Carey; Kittleson, Michelle; Link, Mark S.; Maron, Martin S.; Martinez, Matthew W.; Miyake, Christina Y.; Schaff, Hartzell V.; Semsarian, Christopher; Sorajja, Paul (22 December 2020). "2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary". Journal of the American College of Cardiology. 76 (25): 3022–3055. doi:10.1016/j.jacc.2020.08.044. PMID 33229115. S2CID 227156559. Archived from the original on 16 October 2022. Retrieved 20 October 2022.
  3. 3.0 3.1 3.2 3.3 3.4 3.5 Ozo, Uchenna; Sharma, Sanjay (24 August 2020). "The Impact of Ethnicity on Cardiac Adaptation". European Cardiology Review. 15: e61. doi:10.15420/ecr.2020.01. ISSN 1758-3756. PMC 7479545. PMID 32944090.
  4. 4.0 4.1 4.2 4.3 4.4 4.5 Phelan, Dermot M.; Symanski, John (2021). "7. Hypertrophic cardiomyopathy". In Engel, David J.; Phelan, Dermot M. (eds.). Sports Cardiology: Care of the Athletic Heart from the Clinic to the Sidelines. Switzerland: Springer. pp. 97–110. ISBN 978-3-030-69383-1. Archived from the original on 2022-10-23. Retrieved 2022-10-20.
  5. 5.0 5.1 5.2 Cui, Hao; Schaff, Hartzell V. (2020). "80. Hypertrophic cardiomyopathy". In Raja, Shahzad G. (ed.). Cardiac Surgery: A Complete Guide. Switzerland: Springer. pp. 735–748. ISBN 978-3-030-24176-6. Archived from the original on 2022-10-23. Retrieved 2022-10-20.
  6. Hajduczok, Alexander G.; Ruge, Max; Emery, Michael S. (2022). "Risk Factors for Sudden Death in Athletes, Is There a Role for Screening?". Current Cardiovascular Risk Reports. 16 (10): 97–109. doi:10.1007/s12170-022-00697-9. ISSN 1932-9520. PMC 9251040. PMID 35813032.
  7. Hallak, Yusuf Omar; Battistin, Umberto; Al-Masaeed, Ahmad Mustafa (12 May 2020). "Cardiac Screening to Mitigate the Risk of Sudden Cardiac Death in Middle Eastern and African Competitive Athletes. A Systematic Review". Journal of the Saudi Heart Association. 32 (2): 174–185. doi:10.37616/2212-5043.1047. ISSN 1016-7315. PMC 7640562. PMID 33154912.
  8. Maron, Barry J.; Kalra, Ankur (21 September 2014). "Hypertrophic cardiomyopathy in the developing world: focus on India". European Heart Journal. 35 (36): 2492–2495. doi:10.1093/eurheartj/ehu280. ISSN 1522-9645. PMID 25038775. Archived from the original on 19 October 2022. Retrieved 20 October 2022.