Extracardiac Biopsy Sensitivity in Transthyretin Amyloidosis Cardiomyopathy Patients With Positive 99 mTc-Labeled Pyrophosphate Scintigraphy Findings. 2022

Masato Nishi, and Seiji Takashio, and Mami Morioka, and Akira Fujiyama, and Naoya Nakashima, and Kyoko Hirakawa, and Shinsuke Hanatani, and Hiroki Usuku, and Eiichiro Yamamoto, and Masafumi Kidoh, and Seitaro Oda, and Ryosuke Gushima, and Kenichi Matsushita, and Satoshi Fukushima, and Mitsuharu Ueda, and Kenichi Tsujita
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University.

The accurate sensitivity of amyloid deposition in extracardiac tissue (subcutaneous tissue and gastrointestinal tract) has not been evaluated in transthyretin amyloidosis cardiomyopathy (ATTR-CM) patients. This study aimed to evaluate the sensitivity of amyloid deposition in obtained endomyocardial and extracardiac biopsies.Methods and Results: This study retrospectively evaluated 175 consecutive ATTR-CM patients (wild-type [ATTRwt]: 134, hereditary [ATTRv]: 41) who had positive findings on 99 mTc-labeled pyrophosphate (99 mTc-PYP) scintigraphy and underwent tissue biopsy of at least one organ (subcutaneous tissue, gastrointestinal tract, and endomyocardium). Amyloid deposition was observed in the subcutaneous tissue of 57/150 patients (38%), gastrointestinal tract of 80/131 patients (61%), and endomyocardium of 108/109 patients (99%). Compared to patients with ATTRv, ATTRwt had significantly lower sensitivity in subcutaneous tissue (73% vs. 25%, P<0.01) and tended to be lower in the gastrointestinal tract (74% vs. 57%, P=0.08) biopsies. Among 124 patients who underwent both subcutaneous tissue and gastrointestinal tract biopsies, amyloid was detected in at least 1 specimen in 91 (73%) patients. The sensitivity of the combination of extracardiac biopsies was 66% and 94% in ATTRwt-CM and ATTRv-CM, respectively. Multivariate analysis reveals that ATTRv was the only significant predictor of amyloid deposition in the subcutaneous tissue. Subcutaneous tissue and gastrointestinal tract biopsy sensitivity are inadequate, especially in patients with ATTRwt; however, the combination of these extracardiac biopsies contributes to increased sensitivity in patients with positive 99 mTc-PYP scintigraphy findings.

UI MeSH Term Description Entries
D009202 Cardiomyopathies A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). Myocardial Disease,Myocardial Diseases,Myocardial Diseases, Primary,Myocardial Diseases, Secondary,Myocardiopathies,Primary Myocardial Disease,Cardiomyopathies, Primary,Cardiomyopathies, Secondary,Primary Myocardial Diseases,Secondary Myocardial Diseases,Cardiomyopathy,Cardiomyopathy, Primary,Cardiomyopathy, Secondary,Disease, Myocardial,Disease, Primary Myocardial,Disease, Secondary Myocardial,Diseases, Myocardial,Diseases, Primary Myocardial,Diseases, Secondary Myocardial,Myocardial Disease, Primary,Myocardial Disease, Secondary,Myocardiopathy,Primary Cardiomyopathies,Primary Cardiomyopathy,Secondary Cardiomyopathies,Secondary Cardiomyopathy,Secondary Myocardial Disease
D011756 Diphosphates Inorganic salts of phosphoric acid that contain two phosphate groups. Diphosphate,Pyrophosphate Analog,Pyrophosphates,Pyrophosphate Analogs,Analog, Pyrophosphate
D011877 Radionuclide Imaging The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph. Gamma Camera Imaging,Radioisotope Scanning,Scanning, Radioisotope,Scintigraphy,Scintiphotography,Imaging, Gamma Camera,Imaging, Radionuclide
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D016698 Technetium Tc 99m Pyrophosphate A radionuclide imaging agent used primarily in scintigraphy or tomography of the heart to evaluate the extent of the necrotic myocardial process. It has also been used in noninvasive tests for the distribution of organ involvement in different types of amyloidosis and for the evaluation of muscle necrosis in the extremities. Tc 99m-Pyrophosphate,99mTc-Pyrophosphate,Diphosphoric Acid, Technetium Salt,Tc-PYP,Technetium Tc 99m Pyrophosphate, Tc(3+) Salt (3:4),Technetium Tc 99m Pyrophosphate, Tc(4+) Salt (1:1),99mTc Pyrophosphate,Tc 99m Pyrophosphate,Tc PYP
D028227 Amyloid Neuropathies, Familial Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN. Familial Amyloid Polyneuropathies,Amyloid Neuropathy Type 1,Amyloid Polyneuropathy, British Type,Amyloid Polyneuropathy, Iowa Type,Amyloid Polyneuropathy, Swiss Type,Appalachian Type Familial Amyloid Polyneuropathy,British Type Amyloid Polyneuropathy,Cerebral Amyloid Angiopathy, British Type,Familial Amyloid Neuropathy, Andrade Type,Familial Amyloid Neuropathy, Finnish Type,Familial Amyloid Neuropathy, Portuguese Type,Familial Amyloid Polyneuropathy, Appalachian Type,Familial Amyloid Polyneuropathy, Jewish Type,Familial Amyloid Polyneuropathy, Type I,Familial Amyloid Polyneuropathy, Type II,Familial Amyloid Polyneuropathy, Type III,Familial Amyloid Polyneuropathy, Type IV,Familial Amyloid Polyneuropathy, Type V,Familial Amyloid Polyneuropathy, Type VI,Familial Portuguese Polyneuritic Amyloidosis,Finnish Type Familial Amyloid Neuropathy,Hereditary Neuropathic Amyloidosis,Iowa Type Amyloid Polyneuropathy,Jewish Type Familial Amyloid Polyneuropathy,Neuropathic Amyloid Syndrome,Polyneuritic Amyloidosis, Portuguese,Portuguese Polyneuritic Amyloidosis,Portuguese Type Familial Amyloid Neuropathy,Swiss Type Amyloid Polyneuropathy,Type I Familial Amyloid Polyneuropathy,Type II Familial Amyloid Polyneuropathy,Type III Familial Amyloid Polyneuropathy,Type IV Familial Amyloid Polyneuropathy,Type V Familial Amyloid Polyneuropathy,Type VI Familial Amyloid Polyneuropathy,Wohlwill-Andrade Syndrome,Wohlwill-Corino Andrade Syndrome,Amyloid Neuropathy, Familial,Amyloid Polyneuropathies, Familial,Amyloid Polyneuropathy, Familial,Amyloid Syndrome, Neuropathic,Amyloid Syndromes, Neuropathic,Amyloidoses, Hereditary Neuropathic,Amyloidoses, Portuguese Polyneuritic,Amyloidosis, Hereditary Neuropathic,Amyloidosis, Portuguese Polyneuritic,Familial Amyloid Neuropathies,Familial Amyloid Neuropathy,Familial Amyloid Polyneuropathy,Hereditary Neuropathic Amyloidoses,Neuropathic Amyloid Syndromes,Neuropathic Amyloidoses, Hereditary,Neuropathic Amyloidosis, Hereditary,Neuropathies, Familial Amyloid,Neuropathy, Familial Amyloid,Polyneuritic Amyloidoses, Portuguese,Polyneuropathies, Familial Amyloid,Polyneuropathy, Familial Amyloid,Portuguese Polyneuritic Amyloidoses,Wohlwill Andrade Syndrome,Wohlwill Corino Andrade Syndrome

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