p.(V142I)-Associated Variant Transthyretin Amyloid Cardiomyopathy Complicating Complex Congenital Heart Disease

Figures

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  Figure 1. Anteroposterior Projection Chest X-Ray on Admission Demonstrating Pulmonary Edema and Cardiomegaly

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  Figure 2. 12-Lead Electrocardiogram on Admission Demonstrating Sinus Rhythm With Heart Rate of 92 beats/min, Right Bundle Branch Block, and Left Posterior Fascicular Block

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  Figure 3. Echocardiogram of a 51-Year-Old Man With an Unrepaired Double Outlet Right Ventricle With Tetralogy of Fallot-type Physiology and Echocardiographic Features Suggestive for Cardiac Amyloidosis (A and B) Parasternal long-axis views demonstrating septal hypertrophy with interventricular septal wall thickness in end-diastole (IVSd) of 17 mm (seen in light blue), a large ventricular septal defect (VSD) and an aorta that overrides the right ventricle by more than 50%; bidirectional flow is seen across the VSD using color Doppler. (C to E) Modified short-axis view demonstrating an overriding aorta, dilated right atrium, and severe infundibular stenosis (pulmonary valve maximum velocity = 3.9 m/s). (F) Apical 4-chamber view demonstrating hypertrophy of both left and right ventricular walls (right ventricular wall diameter = 18 mm on diastole) with an impaired left ventricular ejection fraction of 49% and reduced global longitudinal strain of −9.3%. Both atria are dilated (indexed right atria area = 15.4 cm/m2, indexed left atria volume = 34 mL/m2). Of note, pulsed-wave Doppler across the mitral valve inflow demonstrated a mitral valve peak E velocity of 1.4 m/s and mitral valve E…

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  Figure 4. Cardiovascular Magnetic Resonance Imaging Characteristic for Cardiac Amyloidosis in a 51-Year-Old Man With Unrepaired Double Outlet Right Ventricle With Tetralogy of Fallot-type Physiology (A) Horizontal long-axis 4-chamber and (B) 3-chamber steady-state free-precession cine views, respectively. Biventricular hypertrophy is present and systolic dysfunction is impaired in both ventricles (left ventricular ejection fraction = 30%, right ventricular ejection fraction = 40%). Both atria are dilated and there is bowing of the interatrial septum toward the right atria in keeping with elevated left atrial pressure. The interatrial septum is thickened (5 mm). The aortic root is seen overriding the ventricular septal defect. There is aortomitral discontinuity with left-to-right shunt (Qp:Qs = 3.5). (C) Midventricular short-axis view demonstrates increase in maximal wall thickness (left ventricle: 19 mm at mid-inferoseptal wall; right ventricle: 13 mm mid-inferior wall). (D to F) Late gadolinium imaging (phase-sensitive inversion recovery) demonstrating a characteristic pattern of myocardial uptake for cardiac amyloidosis. There is extensive circumferential and transmural uptake in both…

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  Figure 5. Serial CMR Imaging Between 2022 and 2025 Demonstrating an Increase in End-Diastolic Maximal Wall Thickness From 13 mm to 19 mm Pattern of late gadolinium enhancement uptake is consistent with cardiac amyloidosis. This case highlights the importance of performing contrast-enhanced cardiac magnetic resonance (CMR) in patients with unexplained increase in left ventricular wall thickness, as it permitted tissue characterization leading to an eventual diagnosis of cardiac amyloidosis. eGFR = estimated glomerular filtration rate; Hs-Troponin I = high-sensitivity Troponin I; LVEDV = left ventricular end-diastolic volume; LVEF = left ventricular ejection fraction; LVESV = left ventricular end systolic volume; LVSV = left ventricular stroke volume; NT-proBNP = N-terminal pro–B-type natriuretic peptide; RVEF = right ventricular ejection fraction.

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  Figure 6. 99mTechnetium Labeled 3,3-Diphosphono-1,2-Propanodicarboxylic Acid Scintigraphy Illustrating Perugini Grade 3 Myocardial Uptake on Whole-Body Planar Imaging Using a Single-Photon Emission Computed Tomography-Computed Tomography Scanner

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  Visual Summary. Flow Diagram Illustrating the Journey to Diagnosing Cardiac Amyloidosis in a Homozygous Carrier of the p.(V142I) TTR Variant With Concomitant Double Outlet Right Ventricle With Tetralogy of Fallot-type (TOF-type DORV) Physiology 99mTc-DPD = 99mTechnetium labeled 3,3-diphosphono-1,2-propanodicarboxylic acid; ATTRv-CM: variant transthyretin amyloid cardiomyopathy; CMR = cardiac magnetic resonance; ECV = extracellular volume; MDT = multidisciplinary team meeting; NR = normal reference range; RV = right ventricle; TTR = Transthyretin.