case_images: PMC11299493_01
case_images: TTE. A short-axis view (A), a four-chamber view (B), and long-axis views (C,D) show a hypoechoic predominant mass in the apical region, measuring approximately 26 mm x 16 mm. The lesion protrudes toward the ventricular wall, causing compression and deformation of the myocardium. The lesion is clearly demarcated from the myocardium, and the myocardial motion is not restricted. An M-mode echocardiogram shows (E) abnormal apical echoes that did not change significantly during the cardiac cycle (excluding the possibility of pericardial effusion).
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case_images: PMC11299493_01_fcvm-11-1378078-g001.jpg
case_images: F1
case_images: A 41-year-old woman, with a body height of 150 cm and weight of 51 kg, presented with a LV apical hypoechogenic tissue detected by TTE, initially suspected as an LV myocardial tumor (Figure 1).
case_images: CMR images. Apical hypertrophy with a maximal thickness of 17 mm can be seen in four-chamber views in steady-state free precession cine images (A), a T1-weighted CMR sequence (B), a T2-weighted sequence (E), T1-mapping (C) (the values were approximately 1,210 ms for a normal myocardium and approximately 1,213 ms for the apical portion), a T2-mapping sequence (F) (the values were approximately 41 ms for a normal myocardium and approximately 40 ms for the apical portion), a fat-suppressed T2 sequence (D), and an LGE image (I) reveal similar myocardial tissue characteristics as the normal myocardium. (G,H) show a cine image and a fat-suppressed T2 sequence after 3 months with no significant change in the lesion compared with the initial presentation.
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case_images: PMC11299493_01_fcvm-11-1378078-g002.jpg
case_images: F2
case_images: CMR examination identified it as focal left ventricular hypertrophy with a mass-like protrusion of the apical myocardium measuring 17 mm in diameter, as shown in four-chamber views at the end diastole (Figure 2). Cine CMR showed that the lesion was contracting with systole and relaxing with diastole coincident with the normal myocardium, with no reverse motion observed (Supplementary Video). The T1-weighted, T2-weighted, and T1/T2-mapping CMR images demonstrated myocardial characteristics similar to surrounding normal tissue (Figure 2). T1-weighted and T2-weighted CMR was seen within the lesion, becoming hypointense in fat-suppressed T2 images, suggesting myocardial fat deposition. The first-pass perfusion did not show filling defects, and late gadolinium enhancement (LGE) was unremarkable (Figure 2). However, apical hypertrophy was unchanged from the CMR imaging study performed three months earlier (Figure 2).
case_images: ECG and CCTA images demonstrating a sinus rhythm, a left deviation of the electrical axis, inverted T waves, and poor R-wave progression (A). A three-dimensional volume-rendered image (B) shows normal coronary artery alignment with continuous lumen. Axial images (C,D) show a mild diffuse dilatation of the LAD artery and RCA, with maximum diameters of 4.5 mm in the LAD artery and 4.7 mm in the RCA (yellow arrow). A curved planar reformation (E,F) demonstrates a non-calcified plaque in the proximal segment of the LAD artery and RCA with mild luminal narrowing. LAD, left anterior descending; RCA, right coronary artery.
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case_images: PMC11299493_01_fcvm-11-1378078-g003.jpg
case_images: F3
case_images: A recent electrocardiogram (ECG) revealed a left-sided electrical axis deviation with inverted T waves (Figure 3). In addition, a mild diffuse dilatation of the left anterior descending and right coronary arteries was noted (Figure 3).
case_images: The patient presents multiple lentigines dispersed mainly on the face (D), neck (A,C), and limbs (B), mostly flat with the skin, which gradually increase, reaching a peak in adolescence.
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case_images: PMC11299493_01_fcvm-11-1378078-g004.jpg
case_images: F4
case_images: Since the age of 4, she has been presenting with multiple lentigines (brown macules) dispersed mainly on the face, neck, and limbs, mostly flat within the skin, which gradually increase over time and reach a peak in terms of both number and extent in adolescence (Figure 4).