2026-05-22T00:47:53Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/232542024-11-29T02:02:23Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud author Iglesias, Mercedes author Ripoll-Vera, Tomas author Perez-Luengo, Consuelo author García, Ana Belen author Moyano, Susana author Canos, Juan Carlos author Borondo, Juan Carlos author Álvarez-Rubio, Jorge author Heine-Suñer, Damián author Barceló Martín, Bernardino 2024-09-18T06:43:36Z 2024-09-18T06:43:36Z 2021-05 Iglesias M, Ripoll-Vera T, Perez-Luengo C, Garcia AB, Moyano S, Canos JC, et al. Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance. J Clin Med. 2021 May;10(9):1806. 10.3390/jcm10091806 2077-0383 Journal of Clinical Medicine https://hdl.handle.net/20.500.13003/19540 33919104 L2006997589 2-s2.0-85111165294 https://hdl.handle.net/20.500.12105/23254 650345000001 Background: Sudden death (SD) in the young usually has an underlying genetic cause. In many cases, autopsy reveals unspecific and inconclusive results, like idiopathic left ventricular hypertrophy (LVH), nonsignificant coronary atherosclerosis (CA), and primary myocardial fibrosis (PMF). Their pathogenicity and their relation to SD cause is unknown. This study aims to evaluate the diagnostic yield of genetic testing in these cases. Methods: SD cases, between 1 and 50 years old, with findings of uncertain significance (idiopathic LVH, nonsignificant CA and PMF) on autopsy were evaluated prospectively, including information about medical and family history and circumstances of death. Genetic testing was performed. Results: In a series of 195 SD cases, we selected 31 cases presenting idiopathic LVH (n = 16, 51.61%), nonsignificant CA (n = 17, 54.84%), and/or PMF (n = 24, 77.42%) in the autopsy. Mean age was 41 +/- 7.2 years. Diagnostic yield of genetic test was 67.74%, considering variants of unknown significance (VUS), pathogenic variants (PV) and likely pathogenic variants (LPV); 6.45% including only PV and LPV. Structural genes represented 41,93% (n = 13) of cases, while 38,7% (n = 12) were related to channelopathies. Conclusion: Molecular autopsy in SD cases between 1 and 50 years old, with findings of uncertain significance, has a low diagnostic yield, being VUS the most frequent variant observed. eng Sudden death Autopsy Genetic testing Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance research article