Article
Cardiac & Cardiovascular Systems
Ulrika Thelander, Gunilla T. Westermark, Gunnar Antoni, Sergio Estrada, Alice Zancanaro, Elisabet Ihse, Per Westermark
Summary: This study found that the binding of skeletal probes to amyloid-containing hearts is due to the presence of tiny calcification clusters, which are not directly associated with amyloid fibrils. Therefore, bone scans can be considered surrogate markers of ATTR amyloid, but caution is needed when estimating amyloid load or disease progression.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Steven Law, Melanie Bezard, Aviva Petrie, Liza Chacko, Oliver C. Cohen, Sriram Ravichandran, Olabisi Ogunbiyi, Mounira Kharoubi, Sashiananthan Ganeshananthan, Sharmananthan Ganeshananthan, Janet A. Gilbertson, Dorota Rowczenio, Ashutosh Wechalekar, Ana Martinez-Naharro, Helen J. Lachmann, Carol J. Whelan, David F. Hutt, Philip N. Hawkins, Thibaud Damy, Marianna Fontana, Julian D. Gillmore
Summary: This study observed 879 patients with ATTR-CM and found that patients with NAC ATTR Stage Ia disease had significant cardiovascular morbidity despite good short- and mid-term survival. The concentration of NT-proBNP and diuretic requirement at diagnosis can be used to further stratify patients with NAC ATTR Stage I ATTR-CM.
EUROPEAN HEART JOURNAL
(2022)
Review
Cardiac & Cardiovascular Systems
Aldostefano Porcari, Marianna Fontana, Julian D. Gillmore
Summary: Transthyretin cardiac amyloidosis (ATTR-CA) is a common cause of heart failure and mortality, with advances in diagnosis and treatment making it a condition that clinicians should consider daily. Amyloid fibril formation is caused by age-related failure of homoeostatic mechanisms or mutations. Large-scale studies show an increasing incidence of cardiac amyloidosis, with cardiac involvement being the leading cause of mortality. Early recognition is important for optimal treatment.
CARDIOVASCULAR RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Surendra Dasari, Angela Dispenzieri, Shareef Mansour, Prasuna Muppa, Paul J. Kurtin, Jason D. Theis, Julie A. Vrana, Martha Grogan, Taxiarchis Kourelis, Morie A. Gertz, Ellen D. McPhail
Summary: This study investigated the frequency of ATTR amyloid in various biopsy specimens and found that most samples from tendon/synovium, urinary bladder, and prostate were ATTR amyloid. The study showed a high concordance rate of amyloid types between non-cardiac and cardiac sites, suggesting that typing non-cardiac sites may help establish the cardiac amyloid type without the need for endomyocardial biopsy.
Article
Cardiac & Cardiovascular Systems
Yasushi Ichikawa, Eri Oota, Susumu Odajima, Masayuki Kintsu, Saki Todo, Kimikazu Takeuchi, Yuki Yamauchi, Hiroaki Shiraki, Kentaro Yamashita, Terunobu Fukuda, Eriko Hisamatsu, Ken-ichi Hirata, Hidekazu Tanaka
Summary: This study investigated the impact of tafamidis, a drug used in treating transthyretin amyloid cardiomyopathy, on the cardiac morphology of patients. The results showed that tafamidis can prevent the deterioration of various echocardiographic parameters in patients with this condition, even in those with advanced disease and elderly patients.
CIRCULATION JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Christian Nitsche, Matthias Koschutnik, Carolina Dona, Richard Radun, Katharina Mascherbauer, Andreas Kammerlander, Gregor Heitzinger, Varius Dannenberg, Georg Spinka, Kseniya Halavina, Max-Paul Winter, Raffaella Calabretta, Marcus Hacker, Hermine Agis, Raphael Rosenhek, Philipp Bartko, Christian Hengstenberg, Thomas Treibel, Julia Mascherbauer, Georg Goliasch
Summary: The study showed that both AS-ATTR and lone AS patients experienced significant symptomatic improvement following transcatheter aortic valve replacement (TAVR), but AS-ATTR patients remained more symptomatic with higher residual NT-proBNP levels. Additionally, patterns of reverse remodeling differed between the two groups, with AS-ATTR transitioning into a lone ATTR cardiomyopathy phenotype after TAVR.
CIRCULATION-CARDIOVASCULAR IMAGING
(2022)
Review
Biochemistry & Molecular Biology
Federico Perfetto, Mattia Zampieri, Giulia Bandini, Roberto Fedi, Roberto Tarquini, Raffaella Santi, Luca Novelli, Marco Allinovi, Alessia Argiro, Francesco Cappelli
Summary: Orthopaedic manifestations of wild-type transthyretin amyloidosis are frequent and characteristic. These manifestations can serve as clues for early diagnosis and are crucial for improving patient outcomes.
Review
Clinical Neurology
Antonia Carroll, P. James Dyck, Mamede de Carvalho, Marina Kennerson, Mary M. Reilly, Matthew C. Kiernan, Steve Vucic
Summary: Hereditary transthyretin amyloidosis (ATTRv) is a severe genetic disease that primarily affects the peripheral and autonomic nervous system, heart, kidney, and eyes. Misdiagnosis rates are high, leading to diagnostic delays and increased disability. Timely diagnosis is crucial due to the availability of effective treatments. This review highlights key advances in diagnostic techniques, management strategies, and biomarker development for disease progression in ATTRv.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Cardiac & Cardiovascular Systems
Thibaud Damy, Arnt Kristen, Ole B. Suhr, Mathew S. Maurer, Violaine Plante-Bordeneuve, Ching-Ray Yu, Moh-Lim Ong, Teresa Coelho, Claudio Rapezzi
Summary: ATTR amyloidosis in continental Western Europe exhibits highly heterogeneous genotypic and phenotypic profiles. Understanding the diversity of the disease across different regions and recognizing the dominant cardiac phenotype resembling hypertrophic cardiomyopathy can improve the clinical recognition of this frequently underdiagnosed condition.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Zack Dale, Pranav Chandrashekar, Lana Al-Rashdan, Sajan Gill, Miriam Elman, Katherine L. Fischer, Babak Nazer, Ahmad Masri
Summary: Atrial fibrillation and flutter are common in transthyretin cardiac amyloidosis patients. Routine ambulatory monitoring can incidentally diagnose subclinical atrial fibrillation and flutter, and prompt anticoagulation therapy. The incidence of stroke is high, but no stroke occurs in anticoagulated patients.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Medicine, General & Internal
Brian B. Agbor-Etang, Henry E. Okafor, Eric H. Farber-Eger, Quinn S. Wells
Summary: Carriers of the TTR V122I variant, especially those over 60 years old, are at a higher risk for developing cardiac amyloidosis, but clinically apparent cardiac amyloidosis in this population is uncommon.
AMERICAN JOURNAL OF MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Takuma Iwaya, Atsushi Okada, Emi Tateishi, Yasutoshi Ohta, Yoshiaki Morita, Keiko Ohta-Ogo, Chisato Izumi
Summary: This article reports a case of a 81-year-old Japanese woman with wild-type ATTR-CA, who presented with no ventricular hypertrophy and negative bone scintigraphy. The case highlights the importance of multimodality assessments for early diagnosis in patients with atypical cardiac morphologies and emphasizes the consideration of ATTR-CA in patients with non-cardiac manifestations of ATTR amyloidosis.
Review
Cardiac & Cardiovascular Systems
Riccardo Scirpa, Edoardo Cittadini, Lorenzo Mazzocchi, Giacomo Tini, Matteo Sclafani, Domitilla Russo, Andrea Imperatrice, Alessandro Tropea, Camillo Autore, Beatrice Musumeci
Summary: Transthyretin related cardiac amyloidosis (TTR-CA) is increasingly recognized due to a non-invasive diagnostic algorithm. The disease has two stages - presymptomatic and symptomatic, with the need to diagnose in the first stage becoming more urgent. Risk stratification is important to identify patients at higher risk of cardiovascular events and death, with proposed prognostic scores based on biomarkers and laboratory findings. A multiparametric approach combining information from various tests may be necessary for comprehensive risk prediction and management.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Medicine, General & Internal
Kenneth J. Nichols, Se-Young Yoon, Andrew Van Tosh, Christopher J. Palestro
Summary: This study investigated if image interpretations differed among different modalities and time points in the diagnosis of cardiac transthyretin amyloidosis. The results showed fair agreement between SPECT and 3-hour SPECT/CT readings. SPECT and SPECT/CT had a higher positivity rate compared to planar imaging.
Article
Cardiac & Cardiovascular Systems
Tatsuya Akatsuka, Naoki Fujimoto, Masaki Ishiyama, Shiro Nakamori, Kyoko Imanaka-Yoshida, Kaoru Dohi
Summary: Amyloid transthyretin (ATTR) depositions can lead to left ventricular (LV) hypertrophy and diastolic dysfunction. The time course of changes in LV geometry and diastolic function has not been fully reported in patients with ATTR cardiomyopathy. This case report highlights the importance of early diagnosis of ATTR cardiomyopathy in a 79-year-old female patient.
