ReviewHeart failure reviews2022
The genetics of cardiac amyloidosis.
Review in Heart failure reviews, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Transthyretin abnormalities in amyotrophic lateral sclerosis: High molecular weight species in cerebrospinal fluid and stromal deposits in choroid plexus.Journal of neuropathology and experimental neurology · 2025Article
- A Comparative Analysis of Cardiac Amyloidosis and Cardiac Sarcoidosis: A Single-Center Experience.Journal of clinical medicine · 2025Article
- Gender-Specific Differences in Diastolic Dysfunction and HFpEF: Pathophysiology, Diagnosis, and Therapeutic Strategies.Journal of cardiovascular development and disease · 2025Review
- Advances and challenges in echocardiographic diagnosis and management of cardiac amyloidosis.The international journal of cardiovascular imaging · 2025Review
- Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.International journal of cardiology. Heart & vasculature · 2025Article
- Transthyretin Amyloid Cardiomyopathy: Current Diagnostic Approach and Risk Stratification with Multimodality Imaging.Journal of clinical medicine · 2025Review
- Article
- First report of the clinical characteristics and outcomes of cardiac amyloidosis in Saudi Arabia.ESC heart failure · 2024Article
- Amyloids and the Heart: An Update.Journal of clinical medicine · 2024Review
- Increasing clinicians' suspicion of ATTR amyloidosis using a retrospective algorithm.Cardio-oncology (London, England) · 2024Article
- Advances in the Diagnosis and Management of Cardiac Amyloidosis: A Literature Review.Cardiology research · 2024Review
- Review
- Article
- Uneven burden of cardiac amyloidosis in people of African descent - global imbalance in resources and access.BMC global and public health · 2023Review
- Enlarged cross-sectional area in peripheral nerves in Swedish patients with hereditary V30M transthyretin amyloidosis.Annals of medicine · 2023Article
- Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female.Journal of cardiovascular development and disease · 2023Article
- Transthyretin cardiac amyloidosis in Saudi Arabia and the Middle East: insights, projected prevalence and practical applications.Frontiers in cardiovascular medicine · 2023Article
- World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM).Global heart · 2023Review
- Pulmonary 99mTc-HMDP uptake correlates with restrictive ventilatory defects and abnormal lung reactance in transthyretin cardiac amyloidosis patients.Respiratory research · 2022Article
- It Takes a Village: Multimodality Imaging of Cardiac Amyloidosis.Methodist DeBakey cardiovascular journal · 2022Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heritable cardiac amyloidosis (CA) is an underrecognized cause of morbidity and mortality in the USA. It results from the accumulation of the misfolded protein transthyretin within the myocardium, resulting in amyloid transthyretin-associated cardiomyopathy (ATTR-CM). Over 150 different pathologic point mutations within the transthyretin gene have been identified, each carrying variable clinical phenotypes and penetrance. In the USA, the most common cause of hereditary ATTR is the Val122Ile point mutation, with a prevalence of 3.4-4.0% in North Americans of African and Caribbean descent. Among Caucasians with hereditary ATTR-CM, the V30M mutation is the most commonly identified variant. Overall, the incidence of ATTR disease in the USA has been increasing, likely due to an increase in practitioner awareness, utilization of new non-invasive imaging technologies for ATTR diagnosis, and the growth of multidisciplinary amyloid programs across the country. Yet significant numbers of patients with evidence of left ventricular thickening on cardiac imaging, senile aortic stenosis, and/or symptoms of heart failure with preserved ejection fraction likely have undiagnosed CA, especially within the African American population. With the emergence of new disease-modifying therapies for ATTR, recognition and the prompt diagnosis of CA is important for patients and their potentially affected progeny. Herein, we review the genetics of heritable CA as well as the importance of genetic counseling and testing for patients and their families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.