Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (

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Tác giả: Babken Asatryan, Andreas S Barth, Hugh Calkins, Richard T Carrick, Alessio Gasperetti, Cynthia A James, Emily Joseph, Doris G Leung, Steven A Muller, Brittney Murray, Marina Rieder, Anneline S J M Te Riele, Crystal Tichnell, Stefan L Zimmerman

Ngôn ngữ: eng

Ký hiệu phân loại: 327.109 Historical, geographic, persons treatment of foreign policy

Thông tin xuất bản: United States : Circulation. Genomic and precision medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 214046

BACKGROUND: Pathogenic/likely pathogenic (LP) desmin ( METHODS: We searched Medline (PubMed) and Embase for studies that evaluated cardiac phenotypes in patients with pathogenic/LP RESULTS: Of the 4212 screened publications, 71 met the inclusion criteria. A total of 230 patients were included (52.6% male, 52.2% probands, median age: 31 years [22.0-42.8] at first evaluation, median follow-up: 3 years [0-11.0]). Overall, 124 (53.9%) patients were diagnosed with cardiomyopathy, predominantly dilated cardiomyopathy (14.8%), followed by restrictive cardiomyopathy (13.5%), whereas other forms were less common: arrhythmogenic cardiomyopathy (7.0%), hypertrophic cardiomyopathy (6.1%), arrhythmogenic right ventricular cardiomyopathy (5.2%), and other forms (7.4%). Overall, 132 (57.4%) patients developed MACE, with 96 (41.7%) having cardiac conduction disease, 36 (15.7%) sustained VA, and 43 (18.7%) HF events. Familial penetrance of cardiac disease was 63.6% among relatives with pathogenic/LP
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