Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
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Ошибки и ограничения
История · было → стало
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Crotti Lia, Spazzolini Carla, Nyegaard Mette, Overgaard Michael T, Kotta Maria-Christina, Dagradi Federica, Sala Luca, Aiba Takeshi, Ayers Mark D, Baban Anwar, Barc Julien, Beach Cheyenne M, Behr Elijah R, Bos J Martijn, Cerrone Marina, Covi Peter, Cuneo Bettina, Denjoy Isabelle, Donner Birgit, Elbert Adrienne, Eliasson Håkan, Etheridge Susan P, Fukuyama Megumi, Girolami Francesca, Hamilton Robert, Horie Minoru, Iascone Maria, Jiménez-Jaimez Juan, Jensen Henrik Kjærulf, Kannankeril Prince J, Kaski Juan P, Makita Naomasa, Muñoz-Esparza Carmen, Odland Hans H, Ohno Seiko, Papagiannis John, Porretta Alessandra Pia, Prandstetter Christopher, Probst Vincent, Robyns Tomas, Rosenthal Eric, Rosés-Noguer Ferran, Sekarski Nicole, Singh Anoop, Spentzou Georgia, Stute Fridrike, Tfelt-Hansen Jacob, Till Jan, Tobert Kathryn E, Vinocur Jeffrey M, Webster Gregory, Wilde Arthur A M, Wolf Cordula M, Ackerman Michael J, Schwartz Peter J
Аннотация
METHODS AND RESULTS: The ICalmR is an international, collaborative, observational study, assembling and analysing clinical and genetic data on CALM-positive patients. The ICalmR has enrolled 140 subjects (median age 10.8 years [interquartile range 5-19]), 97 index cases and 43 family members. CALM-LQTS and CALM-CPVT are the prevalent phenotypes. Primary neurological manifestations, unrelated to post-anoxic sequelae, manifested in 20 patients. Calmodulinopathy remains associated with a high arrhythmic event rate (symptomatic patients, n = 103, 74%). However, compared with the original 2019 cohort, there was a reduced frequency and severity of all cardiac events (61% vs. 85%; P = .001) and sudden death (9% vs. 27%; P = .008). Data on therapy do not allow definitive recommendations. Cardiac structural abnormalities, either cardiomyopathy or congenital heart defects, are present in 30% of patients, mainly CALM-LQTS, and lethal cases of heart failure have occurred. The number of familial cases and of families with strikingly different phenotypes is increasing.
CONCLUSION: Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing. There are no hard data to guide therapy, and current management includes pharmacological and surgical antiadrenergic interventions with sodium channel blockers often accompanied by an implantable cardioverter-defibrillator.