Published online Dec 26, 2022. doi: 10.4330/wjc.v14.i12.657
Peer-review started: September 8, 2022
First decision: October 13, 2022
Revised: November 3, 2022
Accepted: November 22, 2022
Article in press: November 22, 2022
Published online: December 26, 2022
Processing time: 101 Days and 11.5 Hours
Wild-type transthyretin amyloidosis (ATTRwt) is the most common form of transthyretin amyloid cardiomyopathy, occurring mostly over age of 60 years (mean age of 80 years). Mean survival without treatment is 3.6 years, making early detection imperative. We report an unusual case of a 58-year-old patient with ATTRwt cardiomyopathy requiring heart transplantation.
A 58-year-old male presented with progressive fatigue, shortness of breath, weight gain, leg swelling, orthopnoea, and paroxysmal nocturnal dyspnoea for several months. Approximately ten months before this clinical presentation, the patient had first received a diagnosis of heart failure with reduced ejection fraction (EF) of 15% to 20%. The patient was started on appropriate guideline-directed medical therapy with only mild improvement in his EF. Upon further investigation, echocardiogram, technetium pyrophosphate scan (Tc PYP), and cardiac magnetic resonance imaging (cMRI) suggested a diagnosis of amyloidosis, and ATTRwt was subsequently confirmed with native heart tissue biopsy, congo red staining, liquid chromatography-tandem mass spectrometry, and genetic testing. The patient was successfully treated with heart transplantation and is doing well post-transplant.
Wild-type ATTR amyloidosis should be kept on differentials in all patients (even less than 60 years old) with non-ischemic cardiomyopathy, especially in the setting of increased ventricular wall thickness and other classic echocardiogram, cMRI, and Tc PYP findings. Early diagnosis and management can be consequential in improving patient outcomes.
Core Tip: Wild-type transthyretin amyloidosis (ATTRwt) continues to be an underdiagnosed condition. Although rare in patients under 60 years of age, physicians should include the condition in their differential as early diagnosis and early management can impact patient outcomes. Physicians should be aware of the findings on non-invasive testing that supports ATTRwt. Classically on echocardiogram, cardiac amyloidosis can present as thickened ventricular walls, small lehigh valley chamber, biatrial enlargement, apical sparing on longitudinal strain and signs of elevated filling pressures and restrictive diastolic physiology (increased E/A ratio, E/e’ and reduced mitral annular tissue velocities). Cardiac magnetic resonance imaging classically shows late gadolinium enhancement. A technetium pyrophosphate study shows an increased heart-to-contralateral ratio and increased Perugini visual grade.