1. Early Detection of Hypertrophic Cardiomyopathy
Katie Wilson, Heather Dixon Lindsey, Aneta Petri, Kaycee Stone

2. Objectives Define causes of hypertrophic cardiomyopathy
Identify signs & symptoms
Discuss differential diagnosis compared to typical athlete’s heart
Discuss physicals, deconditioning, EKG, and advanced cardiac imaging

3. What is Hypertrophic Cardiomyopathy (HCM)?
Autosomal dominant (Chun et al., 2010)
Most common genetic heart disease
11 genetic mutations (Maron, 2009)
Males>Females (Corrado et al., 2005)
Left ventricular hypertrophy (Chun et al., 2010)
1/3 of sudden deaths in U.S. (Corrado et al., 2005)

4. Normal Heart vs. HCM
From: Mayo Clinic,

5. Signs and Symptoms Chest pain/discomfort Syncope (Chun et al., 2010)
Irregular heartbeat/palpitations
Shortness of breath/dyspnea
Fatigue out of proportion to exertion
Positive family history (Corrada et al., 2005)
Often asymptomatic

6. Differential Diagnosis of HCM in Athletes: Challenges
Typical Athletic Heart
Athletic Heart with HCM
Adaptations to training (Neary et. al, 2011)
LV remodelling <13 mm (Maron, 2009)
L atrial enlargement
Bizarre ECG changes
LV thickness >15 mm (Chun et al., 2010)
Positive genetic testing/ family history (Maron, 2009)
Abnormal LV filling
L atrial enlargement
Bizarre ECG changes
Adaptations to training affect entire cardiovascular system
Gray zone of overlap of mm (Maron, Br J Sports Med, 2009)
Rapid genetic commercial testing is available, but can be expensive

7. Our Investigation
P: Athletes with family history of HCM or experienced cardiac S/S I: Cardiac Imaging C: Traditional medical sports physicals O: Early detection of HCM

8. Traditional Sports Physicals in the U.S.
Personal history
Family history
Physical examination
Heart sounds and rhythm
Musculoskeletal features (Marfan syndrome)
Blood pressure and femoral pulses (Corrado et al., 2006)

9. 12-lead EKG
Mandatory part of European sports physicals (Corrado et al., 2005)
26-year Italian study on pre-screening athletes (Corrado et al., 2006)
89% decrease in incidence of sudden CV death over period of study
Study included physical exam & history
From: Corrado et al., 2005

10. T-wave Inversion
From: Neary et al., 2011

11. Deconditioning Period
Forced detraining 8-12 weeks (Printz, 2012)
Non-invasive diagnostic method
Athletic heart: physiological changes after
HCM heart: no physiological changes after
LV wall thickness decreases in athletic heart

12. Advanced Cardiac Imaging
Exercise echocardiograph stress testing (Printz, 2012)
Cardiac CT scan
Cardiac MRI (Neary et al.,2011)
Ballistocardiography
Doppler ultrasound (Maron, 2009)
Cardiac MRI reported as gold standard, echocardiograph is also considered best choice
CT scan: high quality multi-planar images, contrast medium used & radiation exposure, so less popular
Ballistocardiography: motion of lower sternum, can tell force of contraction of heart, acceleration & time of contraction, relaxation phase of heart; correlated with echo & has similar results- can do with resting cardiac cycle & pick up changes (2-3 min)

13. Conclusions
Adding 12-lead EKG to sports physicals can detect cardiac abnormalities
Study: Saved 360 kids before age 21(Anderson et al., 2013)
Cost limitations of implementing in U.S.
Advanced cardiac imaging is still needed for diagnosis

14. For More Information
Cleveland Clinic:
46 seconds on video

15. References
Anderson BR, McElligott S, Polsky D, Vetter VL. Electrocardiographic screening for hypertrophic cardiomyopathy and long QT syndrome: the drivers of cost-effectiveness for the prevention of sudden cardiac death. Pediatr Cardiol. Sept [Epub ahead of print].
Chun EJ, Choi SI, Jin KN, Kwag HJ, et al. Hypertrophic cardiomyopathy: assessment with MR imaging and multi-detecter CT. RadioGraphics. 2010;30(5):
Corrado D, Pelliccia A, Bjornstad HH, et al. Cardiovascular pre-participation screening of young competitive athletes for a prevention of sudden death: proposal for a common European protocol. Eur Heart J. Feb 2005;26(5):
Corrado D, Basso C, Pavei A, Michieli P, Schiavon M, Thiene G. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA. 2006;296(13):
Maron BJ. Distinguishing hypertrophic cardiomyopathy from athlete’s heart physiological remondeling: clinical significance, diagnostic strategies and implications for preparticipation screening. Br J Sports Med. 2009;43:
Neary JP, MacQuarrie DS, Jamnik V, Gledhill N, Gledhill S, Busse EFG. Assessment of mechanical cardiac function in elite athletes. Open Sports Med J. 2011;5:26-37.
Printz BF. Noninvasive imaging modalities and sudden cardiac arrest in the young: can they help distinguish subjects with a potentially life-threatening abnormality from the normals? Pediatr Cardiol. 2012;33(3):