Oct 2026· Pediatric Cardiology· 0 citations· 4 references
Medicine
TL;DR
The frequency of cascade family screening in the current era with either cardiovascular imaging (cascade cardiac screening) and/or genetic testing (cascade genetic screening) and the impact of such testing on adverse outcomes in first degree family members was evaluated.
Aneurysm and dissection of great arteries may be a sign of inherited aortic diseases in individuals < 60 years of age. Our aim was to assess the yield of genetic and clinical family cascade screening in this condition.
We studied 131 (31 post mortem, 100 survivors) cases (82 males, 49 females, average age...
A. Krebsová, S. Tománková, P. Votýpka et al.· European Heart Journal· 0 citations
Heritable thoracic aortic diseases (HTAD) include genetic conditions that increase risk of thoracic aortic aneurysm and dissection. The 2022 American College of Cardiology/American Heart Association (ACC/AHA) guidelines recommend genetic testing for at-risk individuals, but real-world uptake remains unclear. We evaluat...
Ariadna Robledo, Sean O'Leary, Daniel E. Del Toro-Pedrosa et al.· American Journal of Cardiolo...· 0 citations
Background and Aims: We examined familial patterns and phenotypes of thoracic aortic aneurysms and dissections (TAAD) in the 3746 patients currently populating our Yale Aortic Institute Database. Methods: Patient charts and electronic medical records were retrospectively reviewed for the entire cohort. TAAD disease was...
Lisa C. Harling, Mohammad A. Zafar, Mah I. Kan Changez et al.· Genes· 0 citations
Bicuspid aortic valve (BAV) affects 0.8% of the population and demonstrates high heritability with up to 89% of the variation in the trait being determined by genetic factors, yet the clinical utility of familial screening and genetic testing in unselected cohorts remains poorly defined/examined. Current European...
J. Bruhn, J. Norsk, A. Sillesen et al.· European Heart Journal· 0 citations
Hypertrophic cardiomyopathy (HCM) is characterized by marked clinical and genetic heterogeneity, which makes early identification of affected relatives and prevention of sudden cardiac death (SCD) central components of care. This narrative review examines how family screening, SCD risk stratification, and contemporary...
F. D. de Souza, Ana Luísa Magnabosco Brandalise, Gustavo Antony da Silva Magalhães· International Health Science...· 0 citations
Screening yield is driven by uptake levels and existing family history, supporting systematic phenotypic screening even when no causative genetic variant is detected, and clinical cascade screening identifies new diagnoses in a modest but clinically meaningful proportion of relatives.
P. M. Marin, D. Tardo, K. Halim et al.· European Heart Journal· 0 citations
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