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case_images: Contrast-enhanced CT pulmonary angiography in mediastinal (A,B) and lung (C) window. (A):left ventricular hypertrophy (arrows), (B):dilated main and right pulmonary artery (arrows), (C):intrapulmonary nodules (arrows).
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case_images: However, other findings reported included left ventricular myocardial hypertrophy, dilated pulmonary arteries, and several intrapulmonary nodules suspicious for intrapulmonary metastases (Figure 1).
case_images: Cardiac magnetic resonance (CMR) imaging; native cine 4-chamber (4ch) view and short-axis (SA) view (A,B). Late gadolinium enhancement (LGE) 4ch and SA views (C,D). (A,B):Concentric left ventricular myocardium hypertrophy (arrows). (C):LGE 4ch view shows patchy fibrosis in the mid-myocardial part of the lateral wall (arrows), typical for Fabry disease. (D):LGE SA view shows patchy fibrosis in the lateral wall (arrow) and patchy fibrosis in anteroseptal and inferoseptal segments (triangles).
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case_images: CMR exam was ordered and showed concentric myocardial hypertrophy of the left ventricle with non-ischemic fibrosis in the basal and mid segments of the lateral wall and patchy non-ischemic fibrosis in the mid-anteroseptal and inferoseptal segments (Figure 2). CMR T1-mapping was also performed, and the values measured 977 ms, whilst the normal reference values were considered to be 950 +- 20 ms (Figure 3).
case_images: T1-mapping sequence, short-axis (SA) view. The mean T1-mapping value of the left ventricle myocardium is 977 ms.
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case_images: CMR exam was ordered and showed concentric myocardial hypertrophy of the left ventricle with non-ischemic fibrosis in the basal and mid segments of the lateral wall and patchy non-ischemic fibrosis in the mid-anteroseptal and inferoseptal segments (Figure 2). CMR T1-mapping was also performed, and the values measured 977 ms, whilst the normal reference values were considered to be 950 +- 20 ms (Figure 3).
case_images: Brain MRI, T1 sequence, sagittal view (A), FLAIR sequence, axial view (B). (A):Thick tubular flow-void located ventral to the pons and mesencephalon (arrows):dolichoectatic basilar artery. (B):White matter hyperintensities due to small vessel disease (arrows).
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case_images: The exam showed basilar artery ectasia and mild to moderate deep white matter changes due to small vessel disease related to FD (Figure 4).
case_images: CMR follow-up 24 months after the initial exam. T1-mapping sequence, short-axis (SA) view. The mean T1-mapping value of the left ventricle myocardium is 932 ms.
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case_images: T1-mapping values was observed, which were reported to be 950 ms, a value within the reference range. The final CMR exam was performed 24 months after the initial exam showed no signs of disease progression, with T1-mapping values within the normal range (932 ms) (Figure 5).
case_images: Initial brain MRI (A), follow-up brain MRI 78 months after the initial exam (B). Significant progression of white matter hyperintensities due to the progression of small vessel disease (arrows).
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case_images: The first progression was detected 60 months after the initial brain MRI, and 78 months after the initial exam, the exam showed severe white matter changes due to the progression of small vessel disease related to FD (Figure 6).
case_images: Family pedigree of the presented siblings. The proband is the first case (older brother).
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case_images: The mother had five brothers and three sisters, of whom three brothers and two sisters are deceased, and all have children of their own (Figure 7).
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case_images: Initial CMR. Cine sequence in 4ch view (A) and LGE sequence in 4ch view (B). Normal thickness of the left ventricular myocardium, with no fibrosis on LGE sequences (arrows).
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case_images: The initial CMR examination showed normal ejection fraction and myocardial contractility with no myocardial hypertrophy (Figure 8).
case_images: T1-mapping sequence, short-axis (SA) view. The mean T1-mapping value of the left ventricle myocardium is 884 ms.
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case_images: The only findings indicative of cardiac manifestation of FD were CMR T1-mapping values, which were measured to be 884 ms (Figure 9).
case_images: Initial brain MRI (A), follow-up brain MRI 78 months after the initial exam (B). (A):Very mild white matter hyperintensities due to small vessel disease in the left cerebral hemisphere (arrow). (B):Significant progression of white matter hyperintensities (arrows).
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case_images: Other findings were unremarkable, and other signs of Fabry disease were not present (Figure 10). The further CMR performed 48 months after the initial diagnosis showed no signs of progression, now with left ventricular volumetry values in the reference range and T1-mapping values in the normal reference range (915 ms). The last MRI exam was performed 60 months after the initial exam and showed moderate white matter changes (Figure 10).
case_images: CMR follow-up 24 months after the initial exam. T1-mapping sequence, short-axis (SA) view. The mean T1-mapping value of left ventricle myocardium is 915 ms.
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case_images: T1-mapping values (938 ms) (Figure 11).