Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers

Nagano, Nobutaka; Muranaka, Atsuko; Nishikawa, Ryo; Ohwada, Wataru; Kouzu, Hidemichi; Kamiyama, Naoyuki; Fujito, Takefumi; Nagahara, Daigo; Nakanishi, Mitsuhiro; Ohkubo, Yukiko; Hisahara, Shin; Nakao, Shin-ichi; Katoh, Nagaaki; Ishikawa, Aki; Sakurai, Akihiro; Yano, Toshiyuki

doi:10.1536/ihj.21-336

Cited by 8 publications

(12 citation statements)

References 33 publications

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“…The diagnostic accuracy of native T1 is high, even in patients with normal LV mass, and it is increased in TTR mutation carriers without LV hypertrophy, highlighting its role as an early disease marker. 38,39 Native T1 is usually higher in AL CA, whereas ECV is more extensive in ATTR CA with values that may reach in average 54% in ATTR and 51% in AL. 38,40,41 Amyloid deposition is also more significant in ATTR which may explain the higher ECV and LV mass compared with AL type.…”

Section: Cardiovascular Magnetic Resonancementioning

confidence: 96%

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Multimodality imaging in cardiac amyloidosis: State‐of‐the‐art review

Timóteo

Rosa

Bras

et al. 2022

J of Clinical Ultrasound

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Amyloidosis is a systemic disease, characterized by deposition of amyloid fibrils in various organs, including the heart. For the diagnosis of cardiac amyloidosis (CA) it is required a high level of clinical suspicion and in the presence of clinical, laboratorial, and electrocardiographic red flags, a comprehensive multimodality imaging evaluation is warranted, including echocardiography, magnetic resonance, scintigraphy, and computed tomography, that will confirm diagnosis and define the CA subtype, which is of the utmost importance to plan a treatment strategy. We will review the use of multimodality imaging in the evaluation of CA, including the latest applications, and a practical flow‐chart will sum‐up this evidence.

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Section: Cardiovascular Magnetic Resonancementioning

confidence: 96%

“…By avoiding the need of contrast, native T1 assumes a particular diagnostic role in this group of patients. The diagnostic accuracy of native T1 is high, even in patients with normal LV mass, and it is increased in TTR mutation carriers without LV hypertrophy, highlighting its role as an early disease marker 38,39 …”

Section: Cardiovascular Magnetic Resonancementioning

confidence: 99%

Multimodality imaging in cardiac amyloidosis: State‐of‐the‐art review

Timóteo

Rosa

Bras

et al. 2022

J of Clinical Ultrasound

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“…The results show that the early diagnosis of cardiology implication is essential for the proper decision-making for therapy affected members who have a family history of heart illness and mortality amyloidosis in the age of effective medicines to delay the course of cardiac amyloidosis. The author concludes that the results of three patients with familial amyloidosis death histories and known pathogenic transthyretin mutations two instances reported no symptoms, but the individual with the mutation developed autonomic neurotoxicity and gastro problems [20].…”

Section: Literature Reviewmentioning

confidence: 96%

Optimization of Amyloidosis Detection Method for Right Ventricle and Its Deployment Using Machine Learning (ML) Approach

Dhanatwal¹,

Jyothi²,

Kumar³

2023

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When an aberrant protein called amyloid accumulates in our organs and tissues, it causes amyloidosis. When it happens, both their form and functionality are impacted and amyloidosis is a critical medical condition that may result in organ failure that is serious and may be lethal. In this present study, the author discussed about the amyloidosis in the right ventricle of the heart and its detection using the Machine Learning (ML). The methodology used for this research includes an infrastructure of amyloidosis detection, created by using supervised and unsupervised learning technique. The results show the precise diagnosis is crucial since the details of ailment will have a significant impact on the kind of therapy we get. The infrastructure gathers user input initially, which is utilised to prepare the data afterwards. Unsupervised data from the right ventricle is collected and supplied to the machine learning cycle after an effective data translation and model development. The study concludes that typical supervised machine learning datasets were used to train the algorithms. These methods may eventually enable longitudinal, automated, and objective monitoring of patients' ventricular function. Machine learning for vast and small datasets of Cardiac Amyloidosis (CA) and cardiac straining and functional parameters offers appealing diagnostics prediction accuracy for CA diagnosis when compared to state-of-the-art methods. The future potential of this research is the infrastructure can be used in an effective manner for the diagnosis of major diseases.

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“…16,17 In these cases, cardiac magnetic resonance (CMR) imaging may be used to show characteristic amyloidosis findings. 16,18 In this study, we employed tissue biopsies, most commonly of skin, and/or cardiac criteria for diagnosis of ATTR in Ser77Tyr mutation carriers. The age and frequency of early symptoms, and of clinical, electrophysiological, and cardiac findings at the time of diagnosis in 19 ATTRS77Y patients were determined.…”

Section: Introductionmentioning

confidence: 99%

Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features

Dori

Arad

Wasserstrum

et al. 2023

Ann Clin Transl Neurol

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Objective Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal‐dominant disorder, characterized by carpal‐tunnel syndrome, poly‐ and autonomic‐neuropathy, and cardiomyopathy. However, related symptoms and signs are often nonspecific and confirmatory tests are required. We describe the age and frequency of early symptoms and diagnostic features among individuals of Jewish Yemenite descent in Israel. Methods Records of mutation carriers were retrospectively reviewed. ATTRS77Y diagnosis was defined by the presence of amyloid in tissue and/or amyloid‐related cardiomyopathy. Results We identified the Ser77Tyr mutation at the heterozygous state in 19 amyloidosis patients (mean age at diagnosis: 62 ± 5.7 years, range 49–70) and 30 amyloid‐negative carriers. The probability for disease diagnosis increased from 4.4% at age 49 to 100% at 70 and occurred earlier in males. Initial symptoms preceded diagnosis by 5 ± 3.8 years (range 0–12) and were commonly sensory changes in the extremities. Erectile dysfunction predated these in 8/13 (62%) males. In two patients cardiac preceded neurological symptoms. Two patients declined symptoms. Electrophysiological studies near the time of diagnosis indicated a median neuropathy at the wrist in 18/19 (95%) and polyneuropathy in 13/19 (68%). Skin biopsy revealed epidermal denervation in 15/16 (94%) patients. Cardiomyopathy was identified in 16/19 (84%). Sensory complaints or epidermal denervations were present in 17/30 (57%) of amyloid‐negative carriers and co‐occurred in 10/30 (33%). Interpretation ATTRS77Y symptoms commonly occur after age 50, but may begin earlier. Median neuropathy, skin denervation and cardiomyopathy are frequently identified. Symptoms may be absent in patients and common in amyloid‐negative carriers.

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Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers

Cited by 8 publications

References 33 publications

Multimodality imaging in cardiac amyloidosis: State‐of‐the‐art review

Multimodality imaging in cardiac amyloidosis: State‐of‐the‐art review

Optimization of Amyloidosis Detection Method for Right Ventricle and Its Deployment Using Machine Learning (ML) Approach

Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features

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