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Cardiovascular phenotype

MedGen UID:
833952
Concept ID:
CN230736
Finding

Professional guidelines

PubMed

Ilic N, Krasic S, Maric N, Gasic V, Krstic J, Cvetkovic D, Miljkovic V, Zec B, Maver A, Vukomanovic V, Sarajlija A
Genes (Basel) 2024 Nov 13;15(11) doi: 10.3390/genes15111463. PMID: 39596663Free PMC Article
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL
Genet Med 2022 May;24(5):1045-1053. Epub 2022 Jan 17 doi: 10.1016/j.gim.2021.12.015. PMID: 35058154Free PMC Article
Schmidtke J, Wittkowski K, Glaubitz R
Mol Cell Probes 2019 Jun;45:70-78. Epub 2019 May 3 doi: 10.1016/j.mcp.2019.04.005. PMID: 31059777

Recent clinical studies

Etiology

Cochrane ALK, Murphy MP, Ozanne SE, Giussani DA
Eur Heart J 2024 Dec 23;45(48):5127-5145. doi: 10.1093/eurheartj/ehae671. PMID: 39508438Free PMC Article
Lee B, Edling C, Ahmad S, LeBeau FEN, Tse G, Jeevaratnam K
Int J Mol Sci 2023 Aug 9;24(16) doi: 10.3390/ijms241612601. PMID: 37628780Free PMC Article
Meister TA, Rexhaj E, Rimoldi SF, Scherrer U, Sartori C
Vasa 2016 Nov;45(6):439-449. Epub 2016 Sep 6 doi: 10.1024/0301-1526/a000573. PMID: 27598052
Stojanovska V, Scherjon SA, Plösch T
Biol Reprod 2016 Mar;94(3):53. Epub 2016 Jan 20 doi: 10.1095/biolreprod.115.135780. PMID: 26792940
Lewandowski AJ, Leeson P
Early Hum Dev 2014 Nov;90(11):725-9. Epub 2014 Sep 7 doi: 10.1016/j.earlhumdev.2014.08.012. PMID: 25209092

Diagnosis

Ilic N, Krasic S, Maric N, Gasic V, Krstic J, Cvetkovic D, Miljkovic V, Zec B, Maver A, Vukomanovic V, Sarajlija A
Genes (Basel) 2024 Nov 13;15(11) doi: 10.3390/genes15111463. PMID: 39596663Free PMC Article
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S
Circ Genom Precis Med 2020 Dec;13(6):e002971. Epub 2020 Sep 22 doi: 10.1161/CIRCGEN.120.002971. PMID: 32960096Free PMC Article
Meister TA, Rexhaj E, Rimoldi SF, Scherrer U, Sartori C
Vasa 2016 Nov;45(6):439-449. Epub 2016 Sep 6 doi: 10.1024/0301-1526/a000573. PMID: 27598052
Lewandowski AJ, Leeson P
Early Hum Dev 2014 Nov;90(11):725-9. Epub 2014 Sep 7 doi: 10.1016/j.earlhumdev.2014.08.012. PMID: 25209092

Therapy

Palma JA
Clin Auton Res 2024 Feb;34(1):31-44. Epub 2024 Feb 2 doi: 10.1007/s10286-024-01016-5. PMID: 38305989Free PMC Article
Nadruz W Jr, West E, Sengeløv M, Grove GL, Santos M, Groarke JD, Forman DE, Claggett B, Skali H, Nohria A, Shah AM
Heart 2019 Jan;105(1):34-41. Epub 2018 May 15 doi: 10.1136/heartjnl-2018-313234. PMID: 29764969Free PMC Article
Meister TA, Rexhaj E, Rimoldi SF, Scherrer U, Sartori C
Vasa 2016 Nov;45(6):439-449. Epub 2016 Sep 6 doi: 10.1024/0301-1526/a000573. PMID: 27598052
Kalra S, Gupta Y, Kishor K
J Pak Med Assoc 2016 Apr;66(4):480-2. PMID: 27122283
Scherrer U, Rexhaj E, Allemann Y, Sartori C, Rimoldi SF
Eur Heart J 2015 Jul 1;36(25):1583-9. Epub 2015 Apr 23 doi: 10.1093/eurheartj/ehv145. PMID: 25911649

Prognosis

Benedicto I, Hamczyk MR, Nevado RM, Barettino A, Carmona RM, Espinós-Estévez C, Gonzalo P, de la Fuente-Pérez M, Andrés-Manzano MJ, González-Gómez C, Dorado B, Andrés V
Aging Cell 2025 Feb;24(2):e14389. Epub 2024 Oct 31 doi: 10.1111/acel.14389. PMID: 39479939Free PMC Article
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL
Genet Med 2022 May;24(5):1045-1053. Epub 2022 Jan 17 doi: 10.1016/j.gim.2021.12.015. PMID: 35058154Free PMC Article
Nadruz W Jr, West E, Sengeløv M, Grove GL, Santos M, Groarke JD, Forman DE, Claggett B, Skali H, Nohria A, Shah AM
Heart 2019 Jan;105(1):34-41. Epub 2018 May 15 doi: 10.1136/heartjnl-2018-313234. PMID: 29764969Free PMC Article
Meister TA, Rexhaj E, Rimoldi SF, Scherrer U, Sartori C
Vasa 2016 Nov;45(6):439-449. Epub 2016 Sep 6 doi: 10.1024/0301-1526/a000573. PMID: 27598052

Clinical prediction guides

Ilic N, Krasic S, Maric N, Gasic V, Krstic J, Cvetkovic D, Miljkovic V, Zec B, Maver A, Vukomanovic V, Sarajlija A
Genes (Basel) 2024 Nov 13;15(11) doi: 10.3390/genes15111463. PMID: 39596663Free PMC Article
Roy A, Patel L, Yuan M, O'Shea C, Alvior AMB, Charalambides M, Moxon D, Baig S, Bunting KV, Gehmlich K, Geberhiwot T, Steeds RP
Int J Cardiol 2024 Aug 15;409:132212. Epub 2024 May 26 doi: 10.1016/j.ijcard.2024.132212. PMID: 38806112
Malik ME, Andersson C, Blanche P, D'Souza M, Madelaire C, Zareini B, Lamberts M, Kristensen SL, Sattar N, McMurray J, Køber L, Torp-Pedersen C, Gislason G, Schou M
Clin Res Cardiol 2023 Feb;112(2):215-226. Epub 2022 Apr 8 doi: 10.1007/s00392-022-02016-z. PMID: 35396632
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL
Genet Med 2022 May;24(5):1045-1053. Epub 2022 Jan 17 doi: 10.1016/j.gim.2021.12.015. PMID: 35058154Free PMC Article
Lewandowski AJ, Leeson P
Early Hum Dev 2014 Nov;90(11):725-9. Epub 2014 Sep 7 doi: 10.1016/j.earlhumdev.2014.08.012. PMID: 25209092

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