Lab Studies:
CBC, CMP, Thyroid Function panel, and urinalysis were WNL. GeneDx Hypertrophic Cardiomyopathy (HCM) Panel:
<br>No disease-causing gene mutation was detected
Other Studies:
<a href="CaseStudyImages/CS2CS1Preparticipati-352.jpg" title="Case Photo #2" data-lity><b>Case Photo #2</b></a> EKG: sinus rhythm, prominent precordial voltage, “dome-shaped” convex ST segment elevations in the anterior precordial leads (V1-V2), and diffuse T wave inversions (most notably in the inferolateral leads).
<br> <a href="CaseStudyImages/CS3CS2CS1Preparticip-352.jpg" title="Case Photo #3" data-lity><b>Case Photo #3</b></a> 2D Echo: Concentric LVH (maximal wall thickness of 1.6 cm) with speckled appearance of myocardium. Hyperdynamic global systolic function (EF > 75%). No LV outflow obstruction or systolic anterior motion of the mitral valve.
<br> <a href="CaseStudyImages/CS4CS3CS2CS1Preparti-352.jpg" title="Case Photo #4" data-lity><b>Case Photo #4</b></a> Cardiac MRI: Abnormal LV myocardial mass at 125 g/m² (47-87 g/m²). Concentric LV thickening with slightly more prominent apical involvement (1.6 cm in anterior basilar septum and basilar inferolateral wall).
<br>No abnormal uptake of gadolinium.
<br> <a href="CaseStudyImages/CS5CS4CS3CS2CS1Prepa-352.jpg" title="Case Photo #5" data-lity><b>Case Photo #5</b></a> Stress ECHO: Standard Bruce protocol: Achieved predicted maximal HR without CP or SOB. Hypertensive response to exercise (baseline BP 152/73, HR 71; peak BP 220/ 60, HR 84), widespread repolarization abnormalities, and dynamic LV outflow tract obstruction
Click here to continue. Challenge yourself by writing down a revised, working diagnosis before moving to the next slide.