2 research outputs found
Gene and metabolite expression dependence on body mass index in human myocardium
Funding Van Geest Foundation, Leicester NIHR Biomedical Research Centre, British Heart Foundation CH/12/1/29419, AA18/3/34220. Competing interests Mrs. Kumar, Prof. Murphy and Dr WoĆșniak received a grant from Zimmer Biomet. Dr Murphy also received grants from Terumo and Baxter. The remaining authors have disclosed that they do not have any potential conflicts of interest.Peer reviewedPublisher PD
Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study
Background Diseases of the thoracic aorta are characterized by a familial etiology in up to 30% of the cases. Nonsyndromic thoracic aorta diseases (NSâTADs) lack overt clinical signs and systemic features, which hinder early detection and prompt surgical intervention. We hypothesize that tailored genetic testing and imaging of firstâdegree and secondâdegree relatives of patients affected by NSâTADs may enable early diagnosis and allow appropriate surveillance or intervention. Methods and Results We conducted a feasibility study involving probands affected by familial or sporadic NSâTADs who had undergone surgery, which also offered screening to their relatives. Each participant underwent a combined imaging (echocardiogram and magnetic resonance imaging) and genetic (whole exome sequencing) evaluation, together with physical examination and psychological assessment. The study population included 16 probands (8 sporadic, 8 familial) and 54 relatives (41 firstâdegree and 13 secondâdegree relatives) with median age 48Â years (range: 18â85 years). No syndromic physical features were observed. Imaging revealed mildâtoâmoderate aortic dilation in 24% of relatives. A genetic variant of uncertain significance was identified in 3 families. Imaging, further phenotyping, or a form of secondary prevention was indicated in 68% of the relatives in the familial group and 54% in the sporadic group. No participants fulfilled criteria for aortic surgery. No differences between baseline and 3âmonth followâup scores for depression, anxiety, and selfâreported quality of life were observed. Conclusions In NSâTADs, imaging tests, genetic counseling, and family screening yielded positive results in up to 1 out of 4 screened relatives, including those in the sporadic NSâTAD group. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT03861741