PMC10174446_01
Imaging of patient B. Parasternal long axis echocardiogram, with an interventricular septal thickness measurement of 11 mm during diastole, and a patent left ventricular outflow tract (A). Right anterior oblique caudal angiogram demonstrating a diminutive left anterior descending artery (B). Images (C-F): cardiac magnetic resonance imaging of patient B. Near-transmural delayed gadolinium enhancement of the mid inferior and inferoseptal wall segments, short-axis view (C). Near-transmural delayed gadolinium enhancement of the mid inferior and inferoseptal wall segments, four-chamber view (D). Focus of mid-myocardial delayed gadolinium enhancement in the mid anteroseptal wall segment, short-axis view (E). Near-transmural septal hypoperfusion, short-axis view (F).
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F3
HCM, as per familial screening guidelines, and was revealed to be a carrier of the pathogenic TNNT2 variant. Her initial transthoracic echocardiogram revealed a maximal wall thickness of 11 mm with hypokinesis in the basal to mid inferior wall and basal to mid anteroseptal walls, with no evidence of obstruction (Figure 3A). Coronary angiography revealed normal variant anatomy with a diminutive LAD (Figure 3B). Subsequent outpatient cardiac MRI demonstrated wall thinning and akinesia of the mid inferior and inferior septal segments with near transmural delayed enhancement hypoperfusion, and focal myocardial delayed enhancement of the mid anterior septal wall segment (Figures 3C-F).