Citations 2
Heart Failure Association of the ESC, Heart Failure Society of America and Japanese Heart Failure Society Position Statement on Endomyocardial Biopsy
Seferović, Petar , Tsutsui, Hiroyuki , McNamara, Dennis M. , Ristić, Arsen , Basso, Cristina , Bozkurt, Biykem , Filippatos, Gerasimos , Ide, Tomomi , Inomata, Takayuki , Milinković, Ivan , Nakamura, Kazufumi , Anker, Stefan D. , Veljić, Ivana , Tschöpe, Carsten , Rosano, Giuseppe , Tschöpe, Carsten , Basso, Cristina , Cooper, Leslie T. , Klingel, Karin , Linhart, Aleš , Lyon, Alexander R. , Mehra, Mandeep R. , Polovina, Marija M. , Ohtani, Tomohito , Okumura, Takahiro , Thum, Thomas , Coats, Andrew J.S. , Starling, Randall C.
European Journal of Heart Failure | May 19, 2021 | Volume: 23 | Issue: 6 | Pages: 854-871
Abstract Endomyocardial biopsy (EMB) is an invasive procedure, globally most often used for the monitoring of heart transplant (HTx) rejection. In addition, EMB can have an important complementary role to the clinical assessment in establishing the diagnosis of diverse cardiac disorders, including myocarditis, cardiomyopathies, drug-related cardiotoxicity, amyloidosis, other infiltrative and storage disorders, and cardiac tumours. Improvements in EMB equipment and the development of new techniques for the analysis of EMB samples have significantly improved diagnostic precision of EMB. The present document is the result of the Trilateral Cooperation Project between the Heart Failure Association of the European Society of Cardiology, the Heart Failure Society of America, and the Japanese Heart Failure Society. It represents an expert consensus aiming to provide a comprehensive, up-to-date perspective on EMB, with a focus on the following main issues: (i) an overview of the practical approach to EMB, (ii) an update on indications for EMB, (iii) a revised plan for HTx rejection surveillance, (iv) the impact of multimodality imaging on EMB, and (v) the current clinical practice in the worldwide use of EMB.
A Novel Disease Gene for Brugada Syndrome
Ishikawa, Taisuke , Marcou, Cherisse A. , Tester, David J. , Ackerman, Michael J. , Crotti, Lia , Schwartz, Peter J. , Park, Jeong-Euy, Nakamura, Kazufumi , Hiraoka, Masayasu , Nakazawa, Kiyoshi, Sakurada, Harumizu, Arimura, Takuro , Makita, Naomasa , Ishikawa, Taisuke , Sato, Akinori , Crotti, Lia , Schwartz, Peter J. , On, Young Keun , Makita, Naomasa , Kimura, Akinori
Circulation: Arrhythmia and Electrophysiology | October 13, 2012 | Volume: 5 | Issue: 6 | Pages: 1098-1107
Background— Mutations in genes including SCN5A encoding the α-subunit of the cardiac sodium channel (hNav1.5) cause Brugada syndrome via altered function of cardiac ion channels, but more than two-thirds of Brugada syndrome remains pathogenetically elusive. T-tubules and sarcoplasmic reticulum are essential in excitation of cardiomyocytes, and sarcolemmal membrane-associated protein (SLMAP) is a protein of unknown function localizing at T-tubules and sarcoplasmic reticulum. Methods and Results— We analyzed 190 unrelated Brugada syndrome patients for mutations in SLMAP . Two missense mutations, Val269Ile and Glu710Ala, were found in heterozygous state in 2 patients but were not found in healthy individuals. Membrane surface expression of hNav1.5 in the transfected cells was affected by the mutations, and silencing of mutant SLMAP by small interfering RNA rescued the surface expression of hNav1.5. Whole-cell patch-clamp recordings of hNav1.5-expressing cells transfected with mutant SLMAP confirmed the reduced hNav1.5 current. Conclusions— The mutations in SLMAP may cause Brugada syndrome via modulating the intracellular trafficking of hNav1.5 channel.