case_images: PMC11811733_01
case_images: Initial transthoracic echocardiogram. Severe left ventricular dilation (left ventricular indexed end-diastolic volume = 112 mL/m2) with moderate systolic dysfunction (Simpson biplane ejection fraction 41%, ejection fraction 3D 39%, global longitudinal strain -15.4%) due to non-segmental hypokinesia. 'Scooping' in the anterior basal septum (white arrow in E). Preserved cardiac index (2.7 L/min/m2). Normal diastolic function. Mild dilatation of the left atrium (left atrium index volume 35 mL/m2). Right atrium non-dilated. Slightly dilated right ventricle (basal diameter 51 mm, right ventricular indexed end-diastolic volume 67 mL/m2) with normal systolic function (tricuspid annular plane systolic excursion 24 mm, S' 18 cm/s; free wall strain: -23.5%; radial: fractional area change 58%, right ventricle ejection fraction 3D 59%). No valvular abnormalities. No pericardial effusion. White arrow: basal thinning of the ventricular septum. (A) Apical four-chamber view. (B) Apical two-chamber view. (C) Wall motion bull s eye. (D) Apical three-chamber view. (E) Parasternal long-axis view. (F) Right ventricle-focused apical four-chamber view.
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case_images: The right ventricle endomyocardial biopsy (EMB) was negative for sarcoid (see Supplementary material online, Figure S1).
case_images: Cardiac magnetic resonance. Severe left ventricular dilation (left ventricular indexed end-diastolic volume = 140 mL/m2), with moderate systolic dysfunction (left ventricular ejection fraction = 41%). Right ventricle with dimensions at the upper limit of normality (indexed end-diastolic volume = 122 mL/m2) and preserved systolic function (ejection fraction = 50%). Extensive late gadolinium enhancement (white and black arrows): mid-wall septal pattern, extending into the sub-epicardial region in the anterior, inferior, and lateral segments and anterior, inferior, and lateral sub-epicardial ('ring-like' pattern). Native T1 globally within normal range (1019 ms; institutional cut-off 1079 ms), although slightly increased in the basal and mid-inferior and inferolateral segments (~1100 ms). T2 mapping sequence shows signs of active myocardial oedema (global T2 51 +- 6 ms; institutional cut-off 50 ms), predominantly in the anterior, anterolateral, and inferolateral walls. (A-E) Late gadolinium enhancement images depicting 'ring-like' pattern. (F, G) T2 mapping with P2-prep steady-state free precession sequence showing diffusely increased T2 values. (H) T2 mapping bull s eye.
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case_images: Cardiac magnetic resonance demonstrated diffuse myocardial oedema [elevated T2 mapping = 51 +- 6 ms (institutional cut-off = 50 ms)] mostly in the anterior, anterolateral, and inferolateral walls and an extensive (26% of LV mass) late gadolinium enhancement (LGE) with two patterns: intra-mural in the LV septum and sub-epicardial in the anterior, inferior, and lateral walls (Figure 2; Supplementary material online, Video S2). Supplementary material online, Figure S2). There were no PVCs on follow-up 24-h Holter. Six-month [18F]FDG PET/CT showed normalized myocardial uptake (Figure 4B).
case_images: Whole-body 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography computed tomography. Diffuse increased uptake in the myocardium (black and white arrows).
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case_images: CT angiography excluded coronary artery disease. Considering the initial investigation and his past medical history, the diagnosis of CS was suspected, and a whole-body [18F]FDG PET/CT scan was performed, revealing increased myocardial uptake consistent with inflammatory myocardial disease (Figure 3), without uptake elsewhere. His mother is currently awaiting genetic results: if she carries the genetic mutation (indicating that it is not a de novo mutation in the index patient), we will recommend that the patient's brother undergo genetic testing (see Supplementary material online, Figure S3).
case_images: Follow-up imaging. (A) Cardiac magnetic resonance imaging: recovery of left ventricular ejection fraction (left ventricular ejection fraction 52%) and left ventricular volumes reduction (indexed end-diastolic volume 85 mL/m2), with slight reduction of native T1 and T2 mapping (global T1 1019>>977 ms, global T2 52>>49 ms). Persistence of late gadolinium enhancement pattern previously described (Figure 2). (i) Late gadolinium enhancement images showing 'ring-like' pattern. (ii) T2 mapping with P2-prep steady-state free precession sequence. (iii) T2 mapping bull's eye. (B) 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography computed tomography showing no abnormal myocardial uptake.
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case_images: Supplementary material online, Figure S2). There were no PVCs on follow-up 24-h Holter. Six-month [18F]FDG PET/CT showed normalized myocardial uptake (Figure 4B).