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

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

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)

Normal Heart vs. HCM From: Mayo Clinic, http://www.mayoclinic.com/health/medical/IM00586

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

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 13-15 mm (Maron, Br J Sports Med, 2009) Rapid genetic commercial testing is available, but can be expensive

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

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)

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

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

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

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)

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

For More Information http://www.youtube.com/watch?v=MhxkyUV6NSA&list=PL39C030C007545A9 Cleveland Clinic: http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/cardiology/hypertrophic-cardiomyopathy/ 46 seconds on video

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 5 2013[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):1309-1328. 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):516-24. 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):1593-1601. 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;43:649-656. 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):439-51.