case_images: PMC11799945_01
case_images: Echocardiography showed hypertrophy of the left ventricle with a maximum thickness of the left ventricular septum of 20 mm and of the posterior wall of 12 mm (D). Left ventricular ejection fraction was 77%, and myocardial deformation analysis did not indicate significant relative apical sparing or reduced global longitudinal strain in the predominant hypertrophic area (C). A resting gradient of 36 mmHg (B) with no change during Valsalva manoeuvre, and a gradient of 64 mmHg at squat-to-stand manoeuvre (A) was measured.
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case_images: The free wall thickness of the right ventricle was 7.9 mm (Figure 1; Supplementary material online).
case_images: Cardiac magnetic resonance imaging. Native T1 maps (A) and extracellular volume maps (B) in a basal, mid-ventricular, and apical slice. Mean native myocardial T1 time per slice from base to apex was 1328, 1313, and 1285 ms (z-score 2.8, 2.4, and 1.6), and corresponding extracellular volume was 36, 34, and 35%. Late gadolinium enhancement (fast low-angle shot, phase-sensitive inversion-recovery) in a four-chamber view (C1), two-chamber view (C2), and short-axis stack from basal to apical (C3) showed indistinct subendocardial late gadolinium enhancement in the basal segments (green arrowheads) with hazy late gadolinium enhancement especially in the basal inferolateral segment (yellow arrowheads), patchy mid-myocardial septal late gadolinium enhancement (red arrows), and few small almost transmural foci of late gadolinium enhancement in the lateral and inferior wall (blue arrows). Additionally, the right ventricle presented normal in size and function without apparent wall thickening or detectable late gadolinium enhancement, while late gadolinium enhancement of the atrial walls could have been suspected in C1.
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case_images: Additional T1 and extracellular volume (ECV) maps revealed a baso-apical gradient of elevated native T1 and markedly elevated ECV, overall compatible with cardiac amyloidosis (Figure 2; Supplementary material online).
case_images: Family tree, obtained September 2023. The proband (arrow) was the index patient. Biological family relationships are denoted by squares (males) and circles (females), age, if known, is written inside. Positive genetic analysis for variant transthyretin amyloidosis is filled black. Death is shown by a crossed-out symbol, and age and cause of death are described below. Known cardiac or neurological symptoms are written into the squares and circles. LVH, left ventricular hypertrophy; PNP, polyneuropathy.
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case_images: Family cascade genetic was carried out (Figure 3) and led to confirmation of a positive genotype in a niece.