scholarly journals Wild-type transthyretin cardiac amyloidosis (ATTRwt-CA), previously known as senile cardiac amyloidosis: clinical presentation, diagnosis, management and emerging therapies

2018 ◽  
Vol 10 (3) ◽  
pp. 2034-2045 ◽  
Author(s):  
Ilia G. Halatchev ◽  
Jingsheng Zheng ◽  
Jiafu Ou
Keyword(s):  
Cardiac Amyloidosis ◽  
Clinical Presentation ◽  
Wild Type ◽  
Emerging Therapies

scholarly journals 110 Sex-related differences in clinical presentation and outcome of patients with cardiac transthyretin amyloidosis and light chain amyloidosis

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Mattia Zampieri ◽  
Alessia Argirò ◽  
Marco Allinovi ◽  
Luigi Tassetti ◽  
Chiara Zocchi ◽  
...  
Keyword(s):  
Light Chain ◽  
Cardiac Amyloidosis ◽  
Clinical Presentation ◽  
Nyha Class ◽  
Interventricular Septum ◽  
University Hospital ◽  
Wild Type ◽  
Transthyretin Amyloidosis ◽  
Light Chain Amyloidosis ◽  
Different Types

Abstract Aims We aimed to ascertain whether sex-related differences are relevant to the pathophysiology, presentation, and outcomes in different types of cardiac amyloidosis—a field still poorly investigated. Medical files from consecutive patients diagnosed with cardiac amyloidosis between 2000 and 2020, at Careggi University Hospital, were retrospectively evaluated. Methods and results Over this period, 259 patients (12% females) were diagnosed with wild type transthyretin amyloidosis (wtATTR), 52 (25% females) with hereditary transthyretin amyloidosis (hATTR) and 143 (47% females) with light chain amyloidosis (AL). Wt-ATTR women, compared to men, were significantly older at the time of diagnosis and showed higher National Amyloidosis Centre score, thicker normalized interventricular septum, higher diastolic dysfunction and worse right ventricular function. Females with hATTR and AL had lower normalized cardiac mass compared to men. Otherwise, bio-humoural parameters, NYHA class, and ECG characteristics were similar. No differences in outcome were observed with regard to sex. Conclusions In conclusion, we did not observe major differences in clinical expression related to sex in different types of cardiac amyloidosis: specifically, outcome was not affected. Nevertheless, women with wtATTR showed a worse profile at diagnosis and evidence suggesting a later recognition of disease compared to men, highlighting the need for a higher index of suspicion in female patients.

Transthyretin Amyloid Cardiomyopathy—Current and Future Therapies

2021 ◽  
pp. 106002802110003
Author(s):  
Jankhna D. Yadav ◽  
Harjot Othee ◽  
Kelly A. Chan ◽  
Damen C. Man ◽  
Paul P. Belliveau ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Complex Disease ◽  
Clinical Presentation ◽  
Target Therapy ◽  
Data Extraction ◽  
Organ Transplant ◽  
Standard Of Care ◽  
Transthyretin Amyloidosis ◽  
Treatment Benefits ◽  
Amyloid Cardiomyopathy

Objective: To describe the clinical presentation of transthyretin amyloid cardiomyopathy (ATTR-CM) and discuss current treatments and investigational products and their effect on patient outcomes. Data Sources: A literature search was performed in PubMed (September 2018 to December 2020) using the following keywords: transthyretin amyloidosis, cardiomyopathy, polyneuropathy and transthyretin amyloid cardiomyopathy, monoclonal light-chain, tafamidis, cardiac amyloidosis, ATTR cardiomyopathy, green tea and inhibition of cardiac amyloidosis, AG10, tolcapone, tolcapone and leptomeningeal ATTR, PRX004, NI006, patisiran, inotersen, vutrisiran, AKCEA-TTR-LRx, and NTLA-2001. Study Selection and Data Extraction: Clinical trials were evaluated for evidence supporting pharmacology, safety, efficacy, and measured outcomes. Data Synthesis: Until 2019, there were no approved treatments for ATTR-CM. Treatment consisted of symptom management and organ transplant. Nonpharmacological and pharmacological treatments focused on the symptoms of heart failure (HF) associated with ATTR-CM. However, there are several emerging therapies recently approved or in development to address the underlying pathophysiology. Treatment classes for ATTR-CM include transthyretin stabilizers, human monoclonal antibodies, gene silencers, and CRISPR/Cas9 gene editing. Relevance to Patient Care and Clinical Practice: ATTR-CM is a complex disease in which amyloidosis causes cardiomyopathy. Underdiagnosis is attributed to the clinical presentation being heterogeneous, indistinguishable from HF caused by other etiologies, and the need for invasive testing modalities, including endomyocardial biopsy. Improved diagnostic approaches along with targeted therapies can slow disease progression and enhance patient quality of life. Conclusion: Diagnostic modalities along with biomarker and genetic testing could detect disease earlier and target therapy more accurately. Novel therapies demonstrate potential treatment benefits and can help shape the standard of care for these patients.

scholarly journals Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System

2016 ◽  
Vol 68 (10) ◽  
pp. 1014-1020 ◽  
Author(s):  
Martha Grogan ◽  
Christopher G. Scott ◽  
Robert A. Kyle ◽  
Steven R. Zeldenrust ◽  
Morie A. Gertz ◽  
...  
Keyword(s):  
Natural History ◽  
Risk Stratification ◽  
Cardiac Amyloidosis ◽  
Staging System ◽  
Wild Type ◽  
History Of

Abstract 16136: Underutilization of Appropriate Testing for Transthyretin Amyloidosis Despite Suspicious Clinical & Echocardiographic Findings

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Katelyn Young ◽  
Kinjal Banerjee ◽  
Maulin Patel ◽  
Sangeeta Prabhakar Bhat ◽  
Colin Reynolds ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cardiac Amyloidosis ◽  
Chart Review ◽  
Diagnostic Testing ◽  
Wild Type ◽  
Transthyretin Amyloidosis ◽  
Highly Sensitive ◽  
Amyloid Light Chain ◽  
Positive Results ◽  
Echocardiographic Findings

Introduction: Both hereditary (hATTR) and wild-type (wtATTR) transthyretin amyloidosis are under-recognized causes of cardiomyopathy (CM) and heart failure. Certain findings on Transthoracic Echocardiography (TTE) and cardiac Magnetic Resonance Imaging (cMRI) are suggestive but not diagnostic of ATTR. Although biopsy historically has been the gold standard for diagnosis, patients can be diagnosed with the highly sensitive and specific technetium-99m pyrophosphate scan (Tc-99m PYP). Genetic testing is recommended to confirm hATTR in patients diagnosed with ATTR cardiac amyloidosis. Despite growing awareness of this condition, many cases remain undiagnosed. This study evaluated if patients with TTEs concerning for infiltrative CM received appropriate diagnostic testing for ATTR-CM. Methods: Our echocardiography registry was queried from January 2011 to March 2020 for patients with our echo lab’s embedded infiltrative CM code. Data on demographics, comorbidities, TTE variables, cMRI results, PYP scans, genetic testing and biopsy results were retrieved from electronic medical records. Thorough manual chart review excluded other causes of CM. Data was expressed as mean ± SD and n (%). Results: We retrieved 510 patients (mean age 64 ± 16 years; 43% female) with TTEs suspicious for infiltrative CM revealing a mean interventricular septal diameter (IVSd) of 1.6 ± 0.3 cm. Only 67 (13%) patients underwent cMRI with 11 (16%) suggestive of cardiac amyloidosis. Of the patients with suspicious TTEs, 16 (3.1%) had PYP scans and 24 (4.7%) had tissue biopsy, with positive results in 7 (44%) and 11 (46%), respectively. Genetic testing in 31 (6%) patients revealed known hATTR mutations in 2 (6.5%) patients. Cardiac amyloidosis was diagnosed in 23 (4.5%) with 11 ATTR (2 hATTR), 5 amyloid light chain, and 7 unknown subtype. Conclusion: Despite clinical and TTE findings suspicious for ATTR-CM, many patients did not undergo appropriate confirmatory testing (see Figure 1).

scholarly journals Association Between Ruptured Distal Biceps Tendon and Wild-Type Transthyretin Cardiac Amyloidosis

JAMA ◽  
2017 ◽  
Vol 318 (10) ◽  
pp. 962 ◽  
Author(s):  
Hallie I. Geller ◽  
Avinainder Singh ◽  
Kevin M. Alexander ◽  
Tara M. Mirto ◽  
Rodney H. Falk
Keyword(s):  
Cardiac Amyloidosis ◽  
Biceps Tendon ◽  
Wild Type ◽  
Distal Biceps Tendon ◽  
Distal Biceps

Cardiac amyloidosis

ESC CardioMed ◽  
2018 ◽  
pp. 1545-1549
Author(s):  
Martha Grogan
Keyword(s):  
Heart Failure ◽  
Median Survival ◽  
Cardiac Amyloidosis ◽  
Beta Blockers ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Wild Type ◽  
Transthyretin Amyloidosis ◽  
Converting Enzyme Inhibitors ◽  
Right Ventricular Wall ◽  
Immunoglobulin Light Chain Amyloidosis

Cardiac amyloidosis is an important cause of heart failure and cardiac arrhythmias, yet cardiologists often miss the diagnosis. Immunoglobulin light-chain amyloidosis (AL) is relatively rare, but likely underdiagnosed. The median survival of untreated patients with cardiac AL is 6 months after the onset of heart failure, highlighting the importance of early diagnosis. Wild-type transthyretin amyloidosis (ATTR) is increasingly recognized, especially in males over the age of 60 years. Although the clinical course of wild-type ATTR is more indolent, the median survival is approximately 3.5 years from diagnosis. Typical echocardiographic findings of increased left and right ventricular wall thickness, diastolic dysfunction, and pericardial effusion may suggest cardiac amyloidosis, along with abnormal delayed gadolinium enhancement and difficulty nulling the myocardium on cardiac magnetic resonance imaging. For AL, a tissue diagnosis is required. In contrast, ATTR may be diagnosed non-invasively with grade 2/3 uptake by nuclear scintigraphy in the absence of a monoclonal protein. Treatment of cardiac amyloidosis is entirely dependent on the type of amyloid and is directed at the underlying precursor protein or disrupting existing deposits. Cardiac care is supportive and challenging. Standard heart failure medications such as beta blockers and angiotensin-converting enzyme inhibitors are not routinely indicated and often cause haemodynamic deterioration. Outcomes of source-directed therapy for AL are improving and several clinical trials of treatment for ATTR are ongoing.

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