Preparticipation Screening Detects Cardiac Disease In An Asymptomatic Preadolescent Athlete - Page #4

Working Diagnosis:
Hypertrophic Cardiomyopathy

ICD placement was not deemed necessary, but the patient was given a home AED and instructed to avoid competitive sports. He was also offered counseling to help cope with the suspected diagnosis of HCM and exclusion from competitive sports. After 3 months of rest, the repeat EKG and ECHO were unchanged and resting blood pressures remained markedly elevated (146-168/62-74). After this observation, he was started on Atenolol 25 mg twice a day for improved blood pressure control and to see if cardiac mass resolution would be achieved once his target BP (

The cardiac murmur, screening EKG, ECHO, and cardiac MRI were suggestive of Hypertrophic Cardiomyopathy; however, genetic testing was negative.
Disqualification was made from participation in competitive sports due to suspicion of HCM.
Deconditioning for 3 months did not result in resolution of his cardiac mass.
Patient was diagnosed with Stage I/II hypertension and started on two antihypertensive agents.
He has remained asymptomatic since his initial evaluation and disqualification.

Author's Comments:
HCM is the most common cause of sudden cardiac death (SCD) in sports[1], largely affects males (9:1, M: F) and results in a disproportionately higher rate of death among African-Americans. [2]
While the prevalence of HCM is > 1:500 in adults [3], it is much less common in children (0.3 to 0.5 per 100,000). [4]
Athlete’s Heart results in increased LV wall thickness due to systematic training, but usually resolves with a period of deconditioning. [5]
Systemic hypertension-induced LVH can also present similarly to HCM, but regression of LV wall thickening often occurs with adequate blood pressure control. [6]
Genetic testing of sarcomere protein genes identifies a disease-causing mutation in up to 60% of HCM cases [4]; therefore, a negative test does not exclude diagnosis. HCM patients with sarcomere mutations usually present earlier and have a higher prevalence of SCD [7]
To reduce risk of SCD in HCM: (1) Exercise restriction and (2) ICD placement if patient experiences life threatening ventricular arrhythmias or ≥2 major risk factors (severe LVH, syncope, NSVT, or family history of SCD) [4]

Editor's Comments:
This case underscores the importance of cardiac auscultation in a quiet environment during the preparticipation physical examination.

1. Harmon K, Asif I, Drezner J. Incidence of Sudden Cardiac Death in National Collegiate Athletic Association Athletes. Circulation. 2011;123:1594-1600
2. Maron BJ, Pellicia A. he Heart of Trained Athletes: Cardiac remodeling and the Risks of Sports, Including Sudden Death. Circulation. 2006; 114: 1633-1644
3. Semsarian C, Ingles J, Maron M, Maron BJ. New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2015; 65: 1249-1254.
4. Elliot PM, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and management of hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014; 35 (39):2733-79.
5. Maron BJ, Pelliccia A, Spataro A, Granata M. Reduction in left ventricular wall thickness after deconditioning in highly trained Olympic athletes. Br Heart J.1993;69:125-128.
6. Fagard R, et al. regression of Left Ventriucular Mass by Antihypertensive Treatment: a meta-analysis of randomized comparative studies. Hypertension. 2009; 54 (5): 1084-1091.
7. Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F, Armentano C, Poggesi C, Torricelli F, Cecchi F. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc 2008;83:630–38.

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