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Renal ultrasound
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Pulmonary function test
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Echocardiogram
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EKG
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The above clinical vignette is concerning for hypertrophic cardiomyopathy (HCM). An echocardiogram is the most effective test to screen for this condition. HCM is an autosomal dominant inherited trait and is a cause of sudden death during sporting activities for young athletes. Those with a family history of premature sudden death should be screened with echocardiogram to ensure they do not have the disease. Echocardiogram findings include thickened left ventricular wall thickness compared to normal individuals of the same age. Once diagnosed, HCM is an absolute contraindication to vigorous exercise and competitive sports. Sharma et al showed differences in heart chamber sizes on echocardiograms performed on athletes and nonathletes. They concluded that hypertrophic cardiomyopathy should be considered strongly in any trained adolescent male athlete with LVWT >12 mm (females >11 mm) and a nondilated left ventricle. Maron et al found that a single negative echocardiogram may not definitely rule out HCM in adolescents. In their study, serial echocardiograms showed that left ventricular hypertrophy may develop or progress spontaneously in patients with the disease during childhood as they mature. Pelliccia et al showed that elite athletes without HCM also showed increased left ventricular cavity dimensions on echocardogram. Without systolic dysfunction, this is likely physiologic cardiac conditioning.
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