Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition

Figures

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  Figure 1. Timeline of initial admission, emergency department visit, and second admission. Location of echocardiograms and other imaging is provided. Timeline is provided in weeks (W). This figure was created for this report by author JAK using draw.io.

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  Figure 2. (A) Echo A: apical four-chamber view showing upper normal atrial enlargement with potential prominent trabeculations in the left ventricle myocardium. (B) Echo B: apical four-chamber view showing mild to moderate biatrial enlargement (increased from prior). (C) Echo C: parasternal short-axis view of the ventricles and the interventricular septum that shows flattened end-systolic septal geometry with eccentricity index of 1.4 and septal bounce. (D) Echo C: Doppler pattern tracing of the main pulmonary artery that shows notched pulmonary artery pattern concerning for elevated right-sided heart pressures and potential pulmonary hypertension.

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  Figure 3. Chest CT reveals scattered diffuse ground-glass opacities, multiple areas of increased lucency consistent with air trapping and multifocal band-like opacities within the middle and lower lobes representing areas of suspected subsegmental atelectasis.

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  Figure 4. Hepatic MRI demonstrates numerous round lesions with increased T2 signal, arterial enhancement, and peripheral pooling with central filling on delayed contrast phases. The bile ducts are not dilated or grossly irregular.