Hypertrophic cardiomyopathy screening is an assessment and testing to detect

hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This r ...

(HCM). It is a way of identifying HCM in immediate relatives of family members diagnosed with HCM, and

athletes An athlete (also sportsman or sportswoman) is a person who competes in one or more sports that involve physical strength, speed, or endurance. Athletes may be professionals or amateurs. Most professional athletes have particularly well-develo ...

as part of a sports medical. It aims to detect HCM early, so that interventions can be commenced to prevent complications and

sudden cardiac death Cardiac arrest is when the heart suddenly and unexpectedly stops beating. It is a medical emergency that, without immediate medical intervention, will result in sudden cardiac death within minutes. Cardiopulmonary resuscitation (CPR) and possib ...

. __TOC__

Purpose

HCM is a

heart disease Cardiovascular disease (CVD) is a class of diseases that involve the heart or blood vessels. CVD includes coronary artery diseases (CAD) such as angina and myocardial infarction (commonly known as a heart attack). Other CVDs include stroke, hea ...

in which a portion of the

heart The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide t ...

becomes thickened without an obvious cause. It affects up to one in 200 people and runs in families. A significant number of people with the condition have no symptoms.

Screening Screening may refer to: * Screening cultures, a type a medical test that is done to find an infection * Screening (economics), a strategy of combating adverse selection (includes sorting resumes to select employees) * Screening (environmental), a ...

is a way of identifying HCM in immediate relatives of family members diagnosed with

(HCM), and

as part of a sports medical. Additional tests may also be performed in those who faint or have exertional

chest pain Chest pain is pain or discomfort in the chest, typically the front of the chest. It may be described as sharp, dull, pressure, heaviness or squeezing. Associated symptoms may include pain in the shoulder, arm, upper abdomen, or jaw, along with n ...

. It aims to detect HCM early, so that interventions can be commenced to prevent complications and

Screening

Generally, screening may be considered for anyone of any age with a family history of HCM or sudden death. Screening includes at first a history of symptoms or family member with HCM, and a physical examination which may reveal a

heart murmur Heart murmurs are unique heart sounds produced when blood flows across a heart valve or blood vessel. This occurs when turbulent blood flow creates a sound loud enough to hear with a stethoscope. Turbulent blood flow is not smooth. The sound di ...

fourth heart sound The fourth heart sound or S4 is an extra heart sound that occurs during late diastole, immediately before the normal two "lub-dub" heart sounds (S1 and S2). It occurs just after atrial contraction and immediately before the systolic S1 and is caus ...

. Initial tests include an ECG and 24-hour ambulatory ECG. Other tests include

echocardiogram An echocardiography, echocardiogram, cardiac echo or simply an echo, is an ultrasound of the heart. It is a type of medical imaging of the heart, using standard ultrasound or Doppler ultrasound. Echocardiography has become routinely used in th ...

, genetic testing and

cardiac MRI Cardiac magnetic resonance imaging (cardiac MRI), also known as cardiovascular MRI, is a magnetic resonance imaging (MRI) medical imaging, technology used for non-invasive assessment of the function and structure of the cardiovascular system. Condi ...

. The

American Heart Association The American Heart Association (AHA) is a nonprofit organization in the United States that funds cardiovascular medical research, educates consumers on healthy living and fosters appropriate cardiac care in an effort to reduce disability and death ...

have developed a 14-point evaluation for competitive athletes, which it recommends for screening healthy teenagers and young adults. File:Airmen perform flight medicine exams 120502-F-YG608-005.jpg, Flight medical: listening of the chest File:ECGfemaleathlete.jpg, ECG of an athlete File:Sonographer doing pediatric echocardiography.JPG, Child having echocardiogram

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. In HCM, the 12-lead ECG typically shows T wave inversion,

ST depression ST depression refers to a finding on an electrocardiogram, wherein the trace in the ST segment is abnormally low below the baseline. Causes It is often a sign of myocardial ischemia, of which coronary insufficiency is a major cause. Other ischem ...

and prominent

Q waves In elastodynamics, Love waves, named after Augustus Edward Hough Love, are horizontally polarized surface waves. The Love wave is a result of the interference of many shear waves (S-waves) guided by an elastic layer, which is ''welded'' to an ...

, unlike the isolated LVH signs of a normal athletic heart. The ventricular cavity in athletes may also be 10% to 15% greater than in comparable non-athletes. Particularly for black athletes, some of their ECG characteristics are more likely to cross over with those seen in HCM. If interpreted incorrectly, it has the possibility of leading to being wrongly reassured or even incorrectly diagnosed with HCM leading to being unfairly disqualified. Limited studies mean it is unclear what structural adaptations occur in the hearts of other ethnicities. Limited literature on

screening Screening may refer to: * Screening cultures, a type a medical test that is done to find an infection * Screening (economics), a strategy of combating adverse selection (includes sorting resumes to select employees) * Screening (environmental), a ...

Arab and African male athletes shows a high

false positive rate In statistics, when performing multiple comparisons, a false positive ratio (also known as fall-out or false alarm ratio) is the probability of falsely rejecting the null hypothesis for a particular test. The false positive rate is calculated as th ...

; that is the tests indicate they have the disease when they don't.

Global variation

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

Research directions

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

References

{{reflist Cardiomyopathy Cardiogenetic disorders Medical tests