case_images: PMC10644754_01
case_images: Cardiac imaging of the proband from family 1. (A) Echocardiographic images; left, parasternal long axis view: thick left ventricular walls with sparkling appearance, small pericardial effusion, and thickened mitral valve leaflets; right, speckle tracking echocardiography and reduced global longitudinal strain with relative apical sparing in the bull's eye image. (B) 99mTc-pyrophosphate (99mTc-RYP) bone scintigraphy with SPECT/CT images. 99mTc-RYP myocardial uptake was assessed as grade 3. (C) Electrocardiography: sinus rhythm, low voltage, right axis deviation, and A-V block Ist degree.
case_images: fcvm-10-1228410-g001.jpg
case_images: PMC10644754_01_fcvm-10-1228410-g001.jpg
case_images: F1
case_images: Echocardiography showed a significantly increased left ventricular wall thickness of approximately 19 mm, with a reduced ejection fraction (EF) of 28%, a global longitudinal strain (GLS) of -6.6%, stage III diastolic dysfunction, thickened valve leaflets, and small pericardial effusion (Figure 1A). These findings together ruled out AL amyloidosis and confirmed the diagnosis of ATTR-CM (Figure 1B). The ECG revealed sinus rhythm, first-degree atrioventricular block, and low voltage in the peripheral leads (Figure 1C).
case_images: Family pedigree. Relationship of the affected individuals in the families with the p.Glu74Leu variant. Arabic numerals refer to the case numbers in the text. (A) Family 1. (B) Family 2.
case_images: fcvm-10-1228410-g002.jpg
case_images: PMC10644754_03_fcvm-10-1228410-g002.jpg
case_images: F2
case_images: TTR mutations in the proband revealed a heterozygous TTR variant c.220_221delGAinsCT, p.Glu74Leu. The daughter and son of the patient have been diagnosed as asymptomatic carriers of the mutation (Figure 2B).
case_images: PMC10644754_02
case_images: PMC10644754_03
case_images: Family pedigree. Relationship of the affected individuals in the families with the p.Glu74Leu variant. Arabic numerals refer to the case numbers in the text. (A) Family 1. (B) Family 2.
case_images: fcvm-10-1228410-g002.jpg
case_images: PMC10644754_03_fcvm-10-1228410-g002.jpg
case_images: F2
case_images: TTR mutations in the proband revealed a heterozygous TTR variant c.220_221delGAinsCT, p.Glu74Leu. The daughter and son of the patient have been diagnosed as asymptomatic carriers of the mutation (Figure 2B).
case_images: Cardiac imaging of the proband from family 2. (A) Echocardiographic images; upper left, parasternal apical view: thick walls, nondilated ventricles, and dilated atria; upper right, speckle tracking echocardiography: reduced global longitudinal strain with relative apical sparing on the bull's eye image; lower left, thick left ventricular walls with sparkling appearance, small pericardial effusion, and thickened mitral valve leaflets; lower right, reduced septal mitral annular tissue Doppler myocardial velocities. (B) Electrocardiography: sinus rhythm, low voltage, right axis deviation, and A-V block Ist degree. (C) 99mTc-pyrophosphate (99mTc-RYP) bone scintigraphy with SPECT/CT images. 99mTc-RYP myocardial uptake was assessed as grade 3.
case_images: fcvm-10-1228410-g003.jpg
case_images: PMC10644754_03_fcvm-10-1228410-g003.jpg
case_images: F3
case_images: ECG revealed sinus rhythm and A-V block Ist degree (Figure 3B). Echocardiography showed a significantly increased left ventricular wall thickness of 20 mm for the septum and 19 mm for the posterior wall, reduced EF and GLS of 45% and -9.0%, respectively, stage III diastolic dysfunction, thickened valve leaflets, and small pericardial effusion (Figure 3A). 48 h Holter ECG was performed, with no registration of atrial fibrillation or conduction disturbances. 99mTc-PYP bone scintigraphy was conducted, showing a H/CL ratio of 2 and grade 3 myocardial uptake on the SPECT/CT, confirming a higher myocardial uptake of the bone tracer (Figure 3C).