A case has been reported of concurrent transthyretin amyloid cardiomyopathy (ATTR-CM) with Paget’s disease in which both conditions were diagnosed using noninvasive approaches.
The case report, published in Cureus, focused on the diagnostic techniques and noted that no apparent association between ATTR-CM and Paget’s disease had been identified.
“There is increasing evidence of non-invasive diagnostic criteria for cardiac amyloidosis, especially for the transthyretin (TTR) type,” the authors wrote. “We report a case of a patient with both ATTR-CM and Paget’s disease, and we highlight the various radiological features of these two conditions using hybrid imaging techniques.”
The case involved a 68-year-old Saudi man who presented with chest pain, shortness of breath on exertion, and bilateral lower limb edema. He had a history of diabetes mellitus, hypertension, and benign prostatic hypertrophy.
Read more about ATTR-CM testing
A transthoracic echocardiogram observed atrial fibrillation, concentric left ventricular wall hypertrophy, right ventricular hypertrophy, and bilateral atrial enlargement. Cardiac amyloidosis was suspected based on findings of left ventricle systolic dysfunction, with the global longitudinal strain showing preserved apical values with decreased basal and midsegment values of the left ventricular wall in a “cherry on top” pattern.
These results led to testing for ATTR-CM via scintigraphy using technetium-99m-labeled 3,3-diphosphono-1,2-propanodicarboxylic acid tracers and whole-body planar and chest single-photon emission computed tomography, which revealed diffuse myocardial and rib uptake consistent with Perugini grade 2 ATTR amyloidosis.
Additional findings of diffuse heterogeneous uptake in the left hemipelvis and abnormally high alkaline phosphatase suggested the concurrent presence of Paget’s disease.
Treatment for heart failure, atrial fibrillation, and hypertension was initiated and he was discharged with disease-modifying therapy and a low-salt diet. The patient was asymptomatic at the follow-up visit.
The authors highlight the radiological features of ATTR-CM and its potential diagnosis via noninvasive techniques, which can prevent the need for invasive approaches such as endomyocardial tissue biopsy.
Reference
ALQattan MH, Alqadhi MA, AlKhamis AA, Alawadh AM, Al Omair AM. Cardiac transthyretin amyloidosis with coincident Paget’s disease: a case report. Cureus. Published online July 28, 2023. doi: 10.7759/cureus.42621
