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How to screen for inherited cardiac diseases

An article from the ESC Council for Cardiology Practice

Who to screen for inherited cardiac disorders remains a matter of debate. However, we can expect the public to consult with the question – "Do I have disease “x”"?
Here we will review the general methods of how to screen in your office. Next week’s article will review the approach to each condition.



Population screening for inherited cardiac disorders is a matter of heated debate (1-2) however there are guidelines between the American Heart Association (AHA) and European Society of Cardiology (ESC) that screening of high-risk groups such as athletes should occur (3) - the ACC is keeping a more conservative view on the benefits of screening in this population. On the basis that that there is a 2.5 times increased risk of sudden death in this population compared with the general population and that 90% of causes are cardiovascular (4), the 2006 Lausanne recommendations are for pre-participation screening of athletes. This position has also been endorsed by the Olympics Committee and was made mandatory by the Union of European Football Association for those competing in European championships (5).
Italian law mandates pre-participation screening of all competitive athletes as well. The cost of the screening is supported however by the athletes themselves, who thereby receive medical clearance to practice their sport competitively .
In Veneto, (northern Italy) a screening programme for athletes 12-35 years of age has been in place for over 30 years, and sudden cardiovascular death has decreased among athletes by approximately 90% whilst remaining unchanged in the general population. This outcome is due to early recognition of athletes with cardiomyopathies and exclusion from competitive sport. All athletes were the object of 1) a careful history, 2) a physical examination and 3) an electrocardiogram. A significant reduction in deaths was noted within this programme, nevertheless, it showed a limited ability to detect premature atherosclerosis and coronary artery anomalies. 
In addition, 9% of those screened required additional testing whereas only 2% were ultimately identified as having a cardiac disorder, thus screening in this manner can lead to false positives, which can heighten patient anxiety and expose them to potentially harmful or unnecessary tests (6). 
Below (Table 1) are a number of cardiac conditions that can be detected with screening - and estimated frequency. 
Table 1: Cardiac conditions that can be detected with screening, from most to least frequent.

Cardiac Condition: Name of conditionFrequency: One in n patients
Coronary Heart Disease 5
Atrial fibrillation 100 (1 in 10 at age 80) 
Coronary artery anomalies 100
Right bundle branch block 100
Left bundle branch block 150
Supraventricular tachycardia (SVT) 400
Hypertrophic cardiomyopathy 500
Wolff-Parkinson-White syndrome 600
Sinus node disease 600
Atrial flutter  1000
Dilated cardiomyopathy 2,000
Arrhythmogenic right ventricular cardiomyopathy  2,000
Brugada syndrome 2,000
Long QT syndrome 2,500

Whilst concerns regarding cost-effectiveness have generally prevented widespread screening programmes, screening selected individuals referred to the cardiology clinic with a specific question in mind does not have large-scale cost implications.

General office screening methods

Here we focus on the general screening methods and specifically, ECG interpretation. 
Generally, outlines of the constituents of positive screening findings based upon history, physical examination and 12-Lead electrocardiogram are available in the literature (7).
Initally, all patients presenting in our offices and asking ‘Do I have disease “x”?’ should be questioned on 1) family history of the specific disease or sudden cardiac death as well (straightforward) as 2) personal history of symptoms (Table 2). 

Table 2
: Italian criteria for a positive personal history (6)

Syncope or near syncope
Exertional chest pain or discomfort
Shortness of breath or fatigue out of proportion to the degree of physical effort
Palpitations or irregular heartbeat

In turn, to help to prevent unnecessary investigation or conversely false reassurance:

  • Table 3 highlights which ECG abnormalities are considered abnormal and warrant further investigation. 
  • Table 4 (8) compares the normal ECG changes associated with athletic training with those deemed potentially pathological. 

Table 3
: European criteria for positive 12 lead electrocardiography (7)

European criteria for positive 12 lead electrocardiography

P wave
Left atrial enlargement: negative portion of P wave in lead V1 of depth ≤0.1 mV and duration ≥0.04 seconds
Right atrial enlargement: peaked P wave in leads II and III or V1 of ≥0.25mV amplitude

  • QRS complex
  • QRS axis deviation: right ≥120° or left −30° to −90°*
    Increased voltage: amplitude of R wave or S wave in a standard lead of ≥2mV, S wave in lead V1 or V2 of ≥3mV, or R wave in lead V5 or V6 of ≥3mV
    Pathological Q waves: duration ≥0.04 seconds, or ≥25% of the height of the ensuing R wave, or QS pattern in two or more leads
    Right or left bundle branch block with QRS duration of ≥0.12 seconds
    R or R’ wave in lead V1 ≥0.5 mV in amplitude and R/S ratio of ≥1

ST segment, T waves, and QT interval
ST segment depression, T wave flattening, or inversion in two or more leads
Prolongation of heart rate corrected QT interval of >0.44 seconds in males and >0.46 seconds in females

Rhythm and conduction abnormalities

Premature ventricular beats or more severe ventricular arrhythmias
Supraventricular tachycardias, atrial flutter, or atrial fibrillation
Short PR interval (<0.12 seconds) with or without ‘delta’ wave
Sinus bradycardia with resting heart rate ≤40 beats/min (Increasing less than 100 beats/min during limited exercise test)
First (PR ≥0.21 seconds - not shortening with hyperventilation or limited exercise test), second or third degree atrioventricular block

Table 4: Training-related vs. training un-related ECG changes (8)

Common and training-related ECG changesUncommon and training unrelated ECG changes
Sinus bradycardia T-wave inversion
First-degree AV block ST-segment depression
Incomplete RBBB  Pathological Q-waves
Early repolarization Left atrial enlargement
Isolated QRS voltage criteria for left ventricular hypertrophy Left-axis deviation/left anterior
  Right-axis deviation/left posterior hemiblock
  Right ventricular hypertrophy
  Ventricular pre-excitation
  Complete LBBB or RBBB
  Long- or short- QT interval
  Brugada-like early repolarisation


Echocardiography during heart screening can 1) reduce false positives as well as 2) detect myocardial and structural abnormalities that would be missed with only a 12-lead ECG. Nevertheless, echocardiography has not been widely taken up for pre-participation screening and they are additional costs, reduced equipment availability and additional time required for its study. 
With the development of new portable ultrasound techniques, hand-held echocardiography is starting to be used as an additional resource for screening, particularly in the community setting.


Pre-participation heart screening can reduce the risk of sudden cardiovascular death but there is a recognised false positive rate. It is important to ask about personal symptoms as well as a family history of specific conditions or sudden cardiac death. The European Society of Cardiology recommends performing a 12-lead ECG as part of general screening. Separating ECG findings into training related and non-training related changes will help reduce false positive investigations. Hand-held echocardiography can be quick and effective and potentially reduce the need for more expensive follow-on testing.
For a look at genetic testing in cardiomyopathies, you will find a e-journal article. On how to conduct pre-participation screening in athletes, find an article from the EACPR that descibes the steps. 


1) Screening of competitive athletes to prevent sudden death
Thiene G et al; Heart 2013;99:304–307.  
2) Think Twice.
Mackie A; Heart 2013;99:306–307. 
3) ACC/AHA/ESC guidelines for management of patients with arrhythmias and the prevention of sudden cardiac death (2006).
Zipes et al. Eur Heart J. 2006 Sep;27(17):2099-140 
4) Sudden cardiac death in athletes: the Lausanne Recommendations.
Bille K, Figueiras D, Schamasch P, Kappenberger L, Brenner JL, Meijboom FJ, Meijboom EJ. Eur J Cardiovasc Prev Rehabil (2006); 13(6): 859-75
5) Preparticipation screening for cardiovascular abnormalities in young competitive athletes.
Papadakis M, Whyte G, Sharma S. BMJ (2008); 29;337;a1596 
6) Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program.
Corrado D, Basso C, Pavei A, Michieli P, Schiavon M, Thiene G. JAMA. 2006 Oct 4;296(13):1593-601. 
7) Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol
Consensus Statement of the Study Group of Sport Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. 
Corrado et al. European Heart Journal (2005) 26, 516–524. 
8) Recommendations for interpretation of 12-lead electrocardiogram in the athlete
Corrado et al. European Heart Journal (2010) 31, 243–259


Vol11 N°23

Notes to editor

Pierre Le Page, Hamish I MacLachlan, Andrew RJ Mitchell.
Address for correspondence:
Dr Andrew RJ Mitchell BM MD FRCP FESC FACC
Consultant Cardiologist
Department of Cardiology
Jersey General Hospital
Gloucester Street St Helier
Jersey JE1 3QS
Channel Islands 
T: +44 (0) 1534 442490
F: +44 (0) 1534 442266
Authors' disclosures: None declared. 

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.