Cardiovascular Preparticipation Sports Screening Are we doing enough? Sanjay Lambore, MD, MSc, FAAP, May 2012 Updated by Ana Malinow, MD, March 2015

Objectives: At the end of this learning experience, viewers will be able to: Discuss the role of sports preparticipation examination in preventing sudden cardiac death Enumerate the causes of sudden cardiac death in athletes Discuss the significance of exhaustive history and clinical findings to rule out cardiac disease in young athletes Discuss American Heart Association (AHA) recommendations for cardiovascular screening of young athletes

Case Anthony was a 16 year old, 6 feet 3 inches tall young man who aspired to be a professional basket ball player. He played for his school’s varsity team. He had a perfectly normal sports physical exam at his pediatrician’s office one month ago. During the second match of the season, he suddenly collapsed and died on the court.

Question 1 What are the goals of cardiovascular preparticipation sports screening? What are the AHA recommendations for preparticipation screening for cardiovascular abnormalities in competitive young athletes? What are the current PIAA (Pennsylvania Interscholastic Athletic Association) preparticipation forms?

Goals of cardiovascular preparticipation screening of athletes. Goals of screening are to: Identify cardiac disorders and prevent sudden unexpected death Prevent disease exacerbations Meet legal requirements

Medical History Physical Examination Personal history Family history The 14-Element AHA Recommendations for Preparticipation Cardiovascular Screening for Competitive Athletes Medical History Personal history Family history Physical Examination Click Here to View The 14-Element AHA Recommendations for Preparticipation Cardiovascular Screening of Competitive Athletes

Source: AHA/ACC Scientific Statement. Circulation, 2014 * Parental verification recommended for HS and MS athletes † Judged not to be vasovagal origin; of particular concern when occurring during or after physical exertion ‡ Refers to heart murmurs judged likely to be organic and unlikely to be innocent §Preferably taken in both arms From: http://circ.ahajournals.org/content/130/15/1303/T1.expansion.html

PIAA Comprehensive Initial Preparticipation Physical Evaluation Section 5: Health History Click Here to View the PIAA Comprehensive Initial Preparticipation Physical Evaluation Section 5 Health History Your state might have a different PPE Do you know which form your state uses?

PIAA Section 6: Comprehensive Initial Preparticipation Physical Evaluation and Certification of Authorized Medical Examiner Click Here to View the PIAA Comprehensive Initial preparticipation Physical Evaluation and Certification of Authorized Medical Examiner Your state might have a different PPE Do you know which form your state uses?

Question 2 What are the limitations to screening for cardiovascular pathology at the time of sports physical?

Limitations to screening sudden cardiac death in athletes Due to low prevalence of sudden death rate (<1%), no screening program will be cost effective. The idea of preventing such a low frequency event is challenging and the efficacy of the screening program is difficult to prove. Due to low prevalence rate of sudden death in sports - poor sensitivity and positive predictive values of the methods

The Italian (Veneto) experience Since 1982, all athletes in Italy 12-35 y/o have been mandated to have PPE and 12-lead ECG Partly subsidized by national health system Performed by accredited sports medicine MD specialists Study by Corrado et al. (2006) showed that 12-lead ECG reduced SD mortality in young athletes by 90% (4.3 to 0.87:100,000 person years) Prompted the European Society of Cardiology in 2005 to recommend national screening in EU and US

Should a 12-lead ECG be used as a universal screening tool? Very controversial topic ECGs have greater sensitivity than H&PE, however, they have: Reduced sensitivity with false positive (FP) rates up to 90% LV remodeling and changes in ECGs in young patients are a potential source of false negative (FN) dx Misplacement of leads results in misdiagnosis Lack of standardization of interval durations

12-lead ECG, continued Upper limit of normal for QT duration suitable for LQTS can be problematic Overlap in the ECGs of healthy young athletes and patients with hypertrophic cardiomyopathy can be challenging A FP rate of 5% in 10 million athletes = 500,000 requiring further testing to r/o heart disease (with only 1,500 pediatric cardiologists in the US) Positive predictive value if prevalence is < 1% becomes trivial

Position of American Heart Association AHA recommends a screening methodology – systematic medical history and physical examination using the 14-element questionnaire AHA panel does not recommend routine use of 12- lead ECG Lack of adequate economic resources Absence of specialized physicians to perform screening and interpretation

Question 3 What is the incidence of sudden cardiac death in athletes? What is the magnitude of the problem?

Magnitude of the problem sudden cardiac death in athletes Sudden cardiac death (SD) is the most common medical cause of death in athletes However, SD in US athletes is rare (~75 athletes/yr) There are ~7.5 million competitive interscholastic athletes. Overall, including youth, middle school, masters-level, college, junior college, and professionals, there are ~ 10 million athletes in the US The sudden cardiac death rate among -high school athletes = 1:100,000-200,000 -marathon runners = 1:50,000

Comparative frequencies of death attributable to all causes for individuals <25 y/o Click Here to View the Comparative frequencies of death attributable to all causes in young individuals aged under 25 years.

Gender sudden cardiac death in athletes Male predominance (male / female ratio 9:1) due to: Higher sports participation rate of males More intensive training load and level of athletic achievement of males Greater prevalence and /or phenotypic expression of cardiomyopathies and premature coronary diseases in young males

Question 4 What are the absolute cardiac contraindications to sports participation according to the 2005 36th Bethesda Conference?

Absolute Contraindication to Sports Participation Pulmonary vascular disease with cyanosis and large right to left shunt Severe pulmonary hypertension Severe aortic stenosis/regurgitation and mitral stenosis/regurgitation Cardiomyopathies, including HCM and ARVC Vascular form of Ehlers-Danlos syndrome LQTS (if genotype+/phenotype-, may participate except in pts. with LQT1, who should refrain from competitive swimming) ARVC= arrhythmogenic right ventricular cardiomyopathy

Absolute Contraindication to Sports Participation Coronary artery anomalies Catecholaminergic polymorphic ventricular tachycardia Acute phase of pericarditis Acute phase of myocarditis (at least 6 months) Acute phase of Kawasaki disease (at least 8 weeks) Brugada Syndrome (advisable) Some presentations of Marfan Syndrome

Question 5 What are the causes of sudden cardiac death in athletes? What is the most common mechanism of death?

Causes sudden death in athletes ~ 40% from hypertrophic cardiomyopathy and unexplained left ventricular hypertrophy 15-20% from coronary artery anomalies <5% Myocarditis Ruptured aortic aneurysm (Marfan syndrome) Arrhythmogenic right ventricular cardiomyopathy Aortic valve stenosis

Causes sudden death in athletes, continued Atherosclerotic coronary disease Dilated cardiomyopathy Mitral valve prolapse Drugs – cocaine, amphetamine WPW syndrome Trauma – commotio cordis Sickle cell trait <1% Long QT syndrome, Brugada syndrome

Mechanism of death in CD Most common mechanism is ventricular tachyarrhythmia In Marfan Syndrome and disorders associated with aortic dissection the mechanism is aortic dissection/rupture

Question 6 How prevalent is hypertrophic cardiomyopathy and what are the presenting symptoms?

Hypertrophic Cardiomyopathy Most common cause of sudden cardiac death Autosomal dominant inheritance with more than 1500 mutations on 16 genes; genetic testing may identify family members with the mutation even if they have not yet developed clinical signs Important to refer to genetics if HCM is present in the family Prevalence in general population of 1:500

Hypertrophic Cardiomyopathy contd. Clinical features which may raise suspicion include: -Family history of HCM -Symptoms of left ventricular outflow obstruction -A heart murmur

Clinical Features of HCM History Mostly asymptomatic (80%); sudden death at sports often is the first clinical manifestation Dyspnea in 90% of symptomatic patients Syncope occurs due to inadequate cardiac output on exertion or from cardiac arrythmia; it identifies children with significant increased risk of sudden death and warrants an urgent evaluation and aggressive treatment

Clinical Features of HCM contd. Presyncope refers to “Graying Out Spells” in erect posture relieved by immediately lying down; this is a common symptom in teenagers but a cardiac etiology should be ruled out Exercise intolerance Angina Dizziness

Physical findings - HCM Arrythmia – atrial fibrillation, atrial flutter, ventricular ectopy, ventricular tachycardia and ventricular fibrillation Double apical impulse – forceful left atrial contraction against a highly noncompliant left ventricle First heart sound is normal. 2nd heart sound could be paradoxically split 3rd and 4th heart sounds – atrial systole against a highly noncompliant left ventricle

Physical findings - HCM contd. Systolic ejection crescendo-decrescendo murmur heard best between apex and left sternal border Radiates to the suprasternal notch (not to carotids or neck) Diminishes with increase in preload (Valsalva maneuver, squatting) Increases with decrease in preload (diuretics or standing)

Physical findings - HCM contd. Holosystolic murmur of mitral regurgitation (apex and left axilla) Diastolic decrescendo murmur of aortic regurgitation is heard in 10% of children with HCM The physical finding most suggestive of hypertrophic cardiomyopathy is a systolic murmur accentuated in the standing position REMEMBER: THERE MAY BE NO FINDINGS ON AUSCULTATION

Question - HCM You see a 13 yr old boy for sports PE who wants to play football. Father has HCM. The patient was seen by Cardiology 3 yrs ago and was told that his heart was fine. His exam in your office is completely normal. Would you certify him to play football? Would you order an ECG, chest xray, genetic testing or cardiology consult?

Answer Recommend Cardiology consult and genetics testing HCM – Familial HCM has autosomal dominant inheritance caused by sarcomere gene mutations 50% inheritance chance in the offspring Phenotypic expression can vary in the same family HCM may not be evident on echo until young adulthood Regular cardiac evaluations (perhaps yearly) are recommended Other family members should be counseled about their risks and genetic testing should be offered See: GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1768/

Question 7 What is the “Athlete’s Heart” ?

Athlete’s Heart Remodeling of cardiac muscle by athletic training. Enlargement of the left ventricular cavity due to increased stroke volume. Cardiac output not affected due to low heart rate Degree of left ventricular enlargement may reach dimensions of pathological heart ECG findings may overlap diagnostic criteria for HCM

Athlete’s Heart contd. In addition to structural changes, the ECG may reveal arrhythmias and conduction abnormalities Athletes with left ventricular enlargement or hypertrophy who do not have HCM should be cleared to participate in sports by cardiology Within a few weeks to months of detraining, morphologic changes seen in Athlete’s Heart regress

Question 8 What is the second most common cause of sudden cardiac death in athletes?

Congenital Coronary Artery Anomalies Second leading cardiac cause of death in the playing field Left main coronary artery originating at an acute angle from the right sinus of valsalva and traveling between the aorta and main pulmonary artery Young athlete with history of chest pain or syncope particularly with exercise – myocardial ischemia

Congenital Coronary Artery Anomalies Findings on PE and ECG – normal Transthoracic or transesophageal echo and MRI for diagnosis. Coronary arteriography - definitive Clinical diagnosis requires a high index of suspicion particularly important ; surgical correction

Question 9 List the clinical findings of Marfan syndrome.

Marfan Syndrome Cardiac – Aortic root dilatation, aortic dissection and mitral valve prolapse Sudden cardiac death is due to dissection and rupture of the aorta Skeletal, ocular, pulmonary – Kyphoscoliosis, pectus deformities, increased arm span, hypermobility, pes planus, lens dislocation, myopia and history of spontaneous pneumothorax WATCH FOR THOSE TALL BASKETBALL GUYS FOR PHYSICALS

Congenital LQTS Predilection for cardiac events in adolescence LQTS is the most common potentially lethal inheritable arrythmia Prolonged QTc interval accompanies a history of syncope Jervell and Lange-Nielsen syndrome -Sensorineural deafness – involves LQTS associated gene mutations in both parents Predilection for cardiac events in adolescence A history of near-drowning is the symptom most suggestive of prolonged QT syndrome on the preparticipation questionnaire

Question 10 How do you calculate the QTc interval?

QTc Interval Bazett Formula: QTc=QT (Sec)/square root R-R (Sec) R-R interval should extend from the R wave in the QRS complex you are measuring QT to the preceding R wave. Normal values: 0.44 sec is 97th percentile for neonates 3-4 days old. Less than or equal to 0.44 sec in children and adults

Future Directions Standardizing history and physical forms Mandating the use of history and physical forms during PPE Creating accreditation criteria for clinicians who perform the PPE More widespread dissemination of AEDs, proven to be effective in saving young lives, athletes and non- athletes alike

Take-home Points of Preparticipation Screening The AHA recommends using a 14-element questionnaire (personal Hx, family Hx, and PE) to screen young athletes for CV disease The most common cause of sudden cardiac death is hypertrophic cardiomyopathy (HCM) Clinical features of HCM include dyspnea, syncope, pre-syncope, exercise intolerance, angina and dizziness PE finding most suggestive of HCM is a systolic murmur accentuated in the standing position Any of these findings, plus a FHX of HCM should prompt a referral to cardiology Absolute contraindications to sports participation include HCM, pulmonary vascular disease, LQTS, pulmonary HTN, severe Ao/MV stenosis/regurgitation, coronary artery anomalies and others

Suggested reading Maron BJ, Friedman RA et al. Assessment of the 12-Lead ECG as a Screening Test for Detection of Cardiovascular Disease in Healthy General Populations of Young People (12-25 Years of Age): A Scientific Statement From the American Heart Association and the American College of Cardiology. Circulation. 2014; 1303-1334. http://circ.ahajournals.org/content/130/15/1303.full Corrado D et al. Cardiovascular preparticipation screening….Europ. Protocol…Eur Heart J 2005;26:516-524 36th Bethesda Conference: Eligibility recommendations for competitive athletes with cardiovascular abnormalities. J Am Coll Cardiol 2005;45:1312-1375

Suggested reading Michael H Crawford. Screening athletes for heart disease. Heart 2007;93:875-879 Barry J Mason et al. Sudden deaths in young competitive athletes. Analysis of 1866 Deaths in the US, 1980-2006. Circulation 2009;119;1085-1092 Hensley N, Dietrick J et al. Hypertrophic Cardiolyopathy: A Review. Anestheisa-Analgesia. March 2015. 120: 3. Cirino AL and Ho C. Hypertrophic Cardiomyopathy Overview. GeneReviews. NCBI. Last update Jan 16, 2014. Behere SP, Shubkin CD and Wiendling SN. Recent Advances in the Understanding and Management of Long QT Syndrome. Curr. Opi. Ped. 2014, 26: 727-733

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