Article
Multidisciplinary Sciences
Maximilian Steinebrei, Juliane Gottwald, Julian Baur, Christoph Roecken, Ute Hegenbart, Stefan Schoenland, Matthias Schmidt
Summary: This manuscript reports the structure of pathologically relevant wild type ATTR amyloid fibril and highlights the common underlying structure for ATTR fibrils despite differences in mutations and patients.
NATURE COMMUNICATIONS
(2022)
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
Perry Elliott, Brian M. Drachman, Stephen S. Gottlieb, James E. Hoffman, Scott L. Hummel, Daniel J. Lenihan, Ben Ebede, Balarama Gundapaneni, Benjamin Li, Marla B. Sultan, Sanjiv J. Shah
Summary: This study demonstrates the long-term efficacy of Tafamidis in the treatment of transthyretin amyloid cardiomyopathy, showing that patients who were initially treated with Tafamidis had significantly better survival rates than those who received placebo initially.
CIRCULATION-HEART FAILURE
(2022)
Article
Oncology
Rodney H. Falk, Mia Haddad, Crystal R. Walker, Sharmila Dorbala, Sarah A. M. Cuddy
Summary: The study showed that tafamidis therapy significantly increases serum TTR levels in patients with ATTR cardiomyopathy, indicating a stabilizing effect. Changes in TTR levels post-therapy may serve as a surrogate marker for stabilization and a more accurate measure of drug efficacy compared to in vitro tests.
JACC: CARDIOONCOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Avni Madhani, Natalia Sabogal, Daniel Massillon, Ludwine D. Paul, Carlos Rodriguez, Denise Fine, Stephen Helmke, Morgan Winburn, Damian Kurian, Farbod Raiszadeh, Sergio Teruya, Elizabeth Cohn, Andrew J. Einstein, Edward J. Miller, Lawreen H. Connors, Mathew S. Maurer, Frederick L. Ruberg
Summary: In this study, it was found that 3.4% of self-identified Black individuals carry the V122I variant, and 39% of them exhibit hereditary ATTR-CM. The study also suggests that serum prealbumin concentration may be helpful in diagnosing ATTR-CM in V122I carriers.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Maria Papathanasiou, Lukas Kessler, Frank M. Bengel, Aiste-Monika Jakstaite, David Kersting, Zohreh Varasteh, Peter Luedike, Alexander Carpinteiro, Ken Herrmann, Tienush Rassaf, Christoph Rischpler
Summary: Cardiac transthyretin amyloidosis is a deadly infiltrative cardiomyopathy with no specific biomarkers to assess disease activity and treatment response. This study found that treatment with tafamidis resulted in regression of myocardial 99mTc-DPD uptake, suggesting that 99mTc-DPD scintigraphy could serve as a useful imaging biomarker for treatment response evaluation.
JOURNAL OF NUCLEAR MEDICINE
(2023)
Article
Medicine, General & Internal
Joshua Saef, Trejeeve Martyn, Anusha Ray Dey, Rola Khedraki, Lauren Ives, Patrick Collier, Wael A. Jaber, Jerry D. Estep, Mazen Hanna, Wai Hong Wilson Tang
Summary: This study reveals that in patients with impaired left ventricular ejection fraction (LVEF) due to ATTR-CM, more than one-third of patients showed improvement in LVEF over time, while those with a decrease in LVEF had worse long-term outcomes.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Zoltan Pozsonyi, Gergely Pesko, Hedvig Takacs, Dorottya Csuka, Viktoria Nagy, Agnes Szilagyi, Lidia Hategan, Balazs Muk, Beata Csanyi, Noemi Nyolczas, Livia Dezsi, Judit Maria Molnar, Anita Csillik, Katalin Revesz, Bela Ivanyi, Fruzsina Szabo, Krisztian Birtalan, Tamas Masszi, Zsuzsanna Aranyi, Robert Sepp
Summary: In Hungary, 40 individuals in 23 families with ATTRv were identified, with 24 symptomatic patients. The most common mutations were ATTRHis88Arg and ATTRIle107Val, with restrictive cardiomyopathy and polyneuropathy as the main clinical significant organ involvement.
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)
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
Clinical Neurology
Loris Poli, Beatrice Labella, Stefano Cotti Piccinelli, Filomena Caria, Barbara Risi, Simona Damioli, Alessandro Padovani, Massimiliano Filosto
Summary: Amyloidoses are a group of diseases characterized by the accumulation of insoluble misfolded protein material called amyloid. Transthyretin amyloidosis (ATTR) is a subtype related to abnormalities in the transthyretin protein. It can be hereditary or occur spontaneously, and affects multiple vital organs. Timely diagnosis is crucial due to the availability of effective treatments.
FRONTIERS IN NEUROLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Roza Badr Eslam, Begum Ozturk, Rene Rettl, Christophe Denis Josef Capelle, Hong Qin, Christina Binder, Theresa-Marie Dachs, Luciana Camuz Ligios, Franz Duca, Daniel Dalos, Lore Schrutka, Farideh Alasti, Johannes Kastner, Greisa Vila, Diana Bonderman
Summary: The study found that patients with higher baseline peak VO2 and lower baseline minute ventilation/carbon dioxide production slope had a lower risk of death or heart failure hospitalization. In patients receiving tafamidis treatment and undergoing repeat CPET testing, an improvement in physical performance was observed.
CIRCULATION-HEART FAILURE
(2022)
Review
Cardiac & Cardiovascular Systems
Zackary J. Tushak, Stephen Zach Cox, Laura F. Cei, Kelly G. Gwathmey, Keyur B. Shah
Summary: Transthyretin amyloidoses result from protein misfolding, leading to amyloid deposits in cardiovascular and nervous systems. Previous treatments focused on symptom management due to lack of disease-modifying therapies. Novel treatments target gene silencing, tetramer stabilization, or fibril disruption to potentially improve outcomes.
JOURNAL OF CARDIOVASCULAR PHARMACOLOGY
(2021)
Review
Oncology
Melissa R. Tsoi, Jeffrey H. Lin, Ayan R. Patel
Summary: This review provides an overview of the available therapies for treating neuropathic and/or cardiac manifestations of transthyretin amyloidosis (ATTR), as well as investigational therapeutic agents in ongoing clinical trials. Recent findings show advances in noninvasive diagnostic methods for detecting ATTR, enabling earlier diagnosis and treatment initiation. There are now several clinically available ATTR-directed treatments and investigational agents being studied in clinical trials, revolutionizing the management of this historically underdiagnosed disease.
CURRENT ONCOLOGY REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Thibaud Damy, Pablo Garcia-Pavia, Mazen Hanna, Daniel P. Judge, Giampaolo Merlini, Balarama Gundapaneni, Terrell A. Patterson, Steven Riley, Jeffrey H. Schwartz, Marla B. Sultan, Ronald Witteles
Summary: Tafamidis, at both 80 and 20 mg doses, effectively reduced mortality and cardiovascular-related hospitalizations in patients with ATTR-CM. The longer-term survival data and the lack of dose-related safety concerns support tafamidis 80 mg as the optimal dose.
EUROPEAN JOURNAL OF HEART FAILURE
(2021)
Article
Cardiac & Cardiovascular Systems
George Mawardi, Tim M. Markman, Rahatullah Muslem, Minoosh Sobhanian, Maureen Converse, Holly B. Meadows, Walter E. Uber, Stuart D. Russell, Rosanne Rouf, Bhavadharini Ramu, Daniel P. Judge, Ryan J. Tedford, Brian A. Houston
HEART LUNG AND CIRCULATION
(2020)
Article
Genetics & Heredity
Francesca Brun, Marta Gigli, Sharon L. Graw, Daniel P. Judge, Marco Merlo, Brittney Murray, Hugh Calkins, Gianfranco Sinagra, Matthew R. G. Taylor, Luisa Mestroni, Cynthia A. James
JOURNAL OF MEDICAL GENETICS
(2020)
Article
Cardiac & Cardiovascular Systems
Paul J. Scheel, Roberta Florido, Steven Hsu, Brittney Murray, Crystal Tichnell, Cynthia A. James, Julia Agafonova, Harikrishna Tandri, Daniel P. Judge, Stuart D. Russell, Ryan J. Tedford, Hugh Calkins, Nisha A. Gilotra
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2020)
Review
Cardiac & Cardiovascular Systems
William J. McKenna, Daniel P. Judge
Summary: Estimates of the incidence and prevalence of inherited cardiomyopathies are challenging due to incomplete and late-onset disease expression, highly variable penetrance within families, and overlapping phenotypes. Current global estimates for hypertrophic, dilated, and arrhythmogenic cardiomyopathies may be conservative.
NATURE REVIEWS CARDIOLOGY
(2021)
Letter
Cardiac & Cardiovascular Systems
Brittney Murray, Crystal Tichnell, Harikrishna Tandri, Hugh Calkins, J. Peter van Tintelen, Daniel P. Judge, Cynthia A. James
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2020)
Editorial Material
Cardiac & Cardiovascular Systems
Mazahir Alimohamed, Bruce W. Usher, Daniel P. Judge, Brian A. Houston
CIRCULATION-HEART FAILURE
(2020)
Letter
Cardiac & Cardiovascular Systems
Emily E. Brown, Brittney Murray, Joban Vaishnav, Emmanouil Tampakakis, Lili A. Barouch, Cynthia James, Anne M. Murphy, Daniel P. Judge
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2020)
Article
Cardiac & Cardiovascular Systems
Alice Ghidoni, Perry M. Elliott, Petros Syrris, Hugh Calkins, Cynthia A. James, Daniel P. Judge, Brittney Murray, Julien Barc, Vincent Probst, Jean Jacques Schott, Jiang-Ping Song, Richard N. W. Hauer, Edgar T. Hoorntje, J. Peter van Tintelen, Eric Schulze-Bahr, Robert M. Hamilton, Kirti Mittal, Christopher Semsarian, Elijah R. Behr, Michael J. Ackerman, Cristina Basso, Gianfranco Parati, Davide Gentilini, Maria-Christina Kotta, Bongani M. Mayosi, Peter J. Schwartz, Lia Crotti
Summary: In a cohort of previously genotype-negative ACM patients, the prevalence of probands with CDH2 pathogenic variants was found to be low at 1.2%. However, those with CDH2 mutations showed a high incidence of ventricular arrhythmic events and rare occurrences of heart failure.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Cynthia A. James, Jan D. H. Jongbloed, Ray E. Hershberger, Ana Morales, Daniel P. Judge, Petros Syrris, Kalliopi Pilichou, Argelia Medeiros Domingo, Brittney Murray, Julia Cadrin-Tourigny, Ronald Lekanne Deprez, Rudy Celeghin, Alexandros Protonotarios, Babken Asatryan, Emily Brown, Elizabeth Jordan, Jennifer McGlaughon, Courtney Thaxton, C. Lisa Kurtz, J. Peter van Tintelen
Summary: After a thorough review, only 8 genes have been definitively or moderately linked to ARVC, including PKP2, DSP, DSG2, DSC2, JUP, TMEM43, PLN, and DES. Pathogenic/likely pathogenic variants in these genes should be the main criteria for ARVC diagnosis, while variants in other genes require further investigation.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Yi Zhen Joan Lee, Johana Fajardo, Emily Brown, Christopher R. D'Adamo, Daniel P. Judge
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH
(2022)
Letter
Cardiac & Cardiovascular Systems
Jessica Atkins, Cortney Gensemer, Kimberly Foil, Jordan Morningstar, Hannia Ramos, Adrian B. Van Bakel, Russell A. Norris, Daniel P. Judge
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Daniel Philip Judge, Neal Kush Lakdawala, Matthew Roy Grayson Taylor, Luisa Mestroni, Huihua Li, Colleen Oliver, Franca Stedile Angeli, Patrice Anne Lee, Calum Archibald MacRae
Summary: Dilated cardiomyopathy associated with lamin A/C (LMNA) gene variants (LMNA-related DCM) is a severe condition with no specific treatment available. A new drug, ARRY-371797, has shown potential in improving symptoms in patients with LMNA-related DCM. This study evaluated the long-term efficacy and safety of ARRY-371797.
AMERICAN JOURNAL OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Naomi Barker, Daniel P. Judge
Summary: Misfolding of transthyretin (TTR) leads to ATTR amyloidosis, a condition that affects cardiac and nervous system tissues. Different pathogenic variants of TTR are associated with different clinical presentations, with Val30Met and Thr60Ala being more aggressive and Val122Ile predominantly affecting older Black men. ATTR cardiomyopathy is often under recognized and underdiagnosed due to similarities with other cardiac conditions.
AMERICAN JOURNAL OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Domenico Corrado, Peter J. van Tintelen, William J. McKenna, Richard N. W. Hauer, Aris Anastastakis, Angeliki Asimaki, Cristina Basso, Barbara Bauce, Corinna Brunckhorst, Chiara Bucciarelli-Ducci, Firat Duru, Perry Elliott, Robert M. Hamilton, Kristina H. Haugaa, Cynthia A. James, Daniel Judge, Mark S. Link, Francis E. Marchlinski, Andrea Mazzanti, Luisa Mestroni, Antonis Pantazis, Antonio Pelliccia, Martina Perazzolo Marra, Kalliopi Pilichou, Pyotr G. A. Platonov, Alexandros Protonotarios, Alessandra Rampazzo, Jeffry E. Saffitz, Ardan M. Saguner, Christian Schmied, Sanjay Sharma, Hari Tandri, Anneline S. J. M. Te Riele, Gaetano Thiene, Adalena Tsatsopoulou, Wojciech Zareba, Alessandro Zorzi, Thomas Wichter, Frank Marcus, Hugh Calkins
EUROPEAN HEART JOURNAL
(2020)
Meeting Abstract
Biochemistry & Molecular Biology
Emily E. Brown, Johana Fajardo, Daniel P. Judge
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2019)