Figure 6.

Evidence of Disease Progression in Thin-filament HCM

(A) Echocardiographic images from patient ID #5 carrying the TNNT2-F110L mutation. Top: Echocardiographic evaluation at age 16 years. (Left) Parasternal short-axis view showing severe and diffuse anteroseptal LV hypertrophy. (Right) Parasternal long-axis view showing turbulent flow in the LV outflow tract (arrow), caused by severe dynamic obstruction. (Bottom) Similar views from the same patient at age 37 years, showing marked anteroseptal wall thinning and absence of obstruction and increased left atrial size. (B) CMR images from patient ID #32 carrying the TNNT2-R92W mutation. (Top) Cardiac magnetic resonance at age 21 years. Short-axis and 3-chamber views show absence of late gadolinium enhancement (LGE) in the LV wall. (Bottom) Similar views from the same patient at age 25 years. LGE shows extensive fibrous substitution within the anterior septum (arrow), occupying 25% of total LV mass. Abbreviations as in Figure 5.