Lab Studies:
Genetic Testing – pathologic variant in MYBPCS c.1224-52 G>A
Other Studies:
EKG – new T wave inversions at V3-6. <a href="CaseStudyImages/CS1ReturntoPlayafter-1035.jpg" title="Case Photo #1" data-lity><b>Case Photo #1</b></a>
<br>Ambulatory cardiac monitor, Zio patch – worn for two weeks with no arrhythmias noted
<br>Trans-thoracic echocardiogram – mild concentric left-ventricular hypertrophy with maximal
<br>septal wall thickness measuring 14mm in the basal septum, corresponding to an adolescent Z
<br>score of 1.5. Mild systolic anterior motion but no significant left ventricular outflow obstruction.
<br>Cardiac MRI <a href="CaseStudyImages/CS2ReturntoPlayafter-1035.jpg" title="Case Photo #2" data-lity><b>Case Photo #2</b></a> <a href="CaseStudyImages/CS3CS2ReturntoPlayaf-1035.jpg" title="Case Photo #3" data-lity><b>Case Photo #3</b></a> – Showed asymmetric hypertrophy of the septum and anterior wall of the left
<br>ventricle diagnostic of hypertrophic cardiomyopathy. Basal septum measured 22mm and
<br>maximal anterior wall thickness of 27mm in a focal area of the anterior free wall. There was
<br>systolic anterior wall motion with flow acceleration through the left-ventricular outflow tract,
<br>Ejection fraction noted to be 67% with no late gadolinium enhancement (LGE), and normal
<br>coronary arteries.
<br>Over-read of TTE after CMR findings – poor technique and incorrect septal wall measurements.
<br>Cardiopulmonary Exercise Test (CPET) – no ventricular arrhythmias noted, normal cardiovascular response to exercise, with an overall impression of reduced exercise endurance for age with VO2 max 25.6/kg/min representing 20-30% of predicted VO2 max for age and body
<br>habitus (35.3mL/kg/min).
Consultations:
Pediatric Cardiologist – performed TTE. Even though initial echocardiogram revealed an
<br>adolescent Z score of 1.5, a cardiac MRI was recommended given the patient’s history of
<br>Kawasaki’s disease.
Click here to continue. Challenge yourself by writing down a revised, working diagnosis before moving to the next slide.