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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
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788

Recent clinical studies

Etiology

Fumagalli C, Longhi S, Aimo A, Argirò A, Barilaro A, Biagini E, Biagioni G, Ceccanti M, Cipriani A, Chimenti C, De Michieli L, Di Bella G, Emdin M, Graziani F, Guaraldi P, Imazio M, Limongelli G, Lofiego C, Luigetti M, Marazia S, My F, Musca F, Ossola P, Palladini G, Perlini S, Porcari A, Mussinelli R, Musumeci B, Palmiero G, Perfetto F, Russo M, Tini G, Vergaro G, Vagnarelli F, Verrillo F, Varrà GG, Sciarrone MA, Sinagra G, Merlo M, Obici L, Cappelli F
Eur Heart J Qual Care Clin Outcomes 2025 Nov 4;11(7):1015-1022. doi: 10.1093/ehjqcco/qcaf024. PMID: 40392964
R Muralitharan R, Zheng T, Dinakis E, Xie L, Barbaro-Wahl A, Jama HA, Nakai M, Paterson M, Leung KC, McArdle Z, Mirabito Colafella K, Johnson C, Qin W, Salimova E, Bitto NJ, Kaparakis-Liaskos M, Kaye DM, O'Donnell JA, Mackay CR, Marques FZ
Circ Res 2025 Feb 14;136(4):e20-e33. Epub 2025 Jan 22 doi: 10.1161/CIRCRESAHA.124.325770. PMID: 39840468
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
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

Diagnosis

Fumagalli C, Longhi S, Aimo A, Argirò A, Barilaro A, Biagini E, Biagioni G, Ceccanti M, Cipriani A, Chimenti C, De Michieli L, Di Bella G, Emdin M, Graziani F, Guaraldi P, Imazio M, Limongelli G, Lofiego C, Luigetti M, Marazia S, My F, Musca F, Ossola P, Palladini G, Perlini S, Porcari A, Mussinelli R, Musumeci B, Palmiero G, Perfetto F, Russo M, Tini G, Vergaro G, Vagnarelli F, Verrillo F, Varrà GG, Sciarrone MA, Sinagra G, Merlo M, Obici L, Cappelli F
Eur Heart J Qual Care Clin Outcomes 2025 Nov 4;11(7):1015-1022. doi: 10.1093/ehjqcco/qcaf024. PMID: 40392964
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
Marco-Benedí V, Laclaustra M, Bea AM, Suarez-Tembra M, Plana N, Pinto X, Brea A, Sanchez-Hernandez RM, Civeira F
Atherosclerosis 2021 Mar;320:47-52. Epub 2021 Jan 18 doi: 10.1016/j.atherosclerosis.2021.01.015. PMID: 33529866
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
Bassareo PP, Fanos V, Crisafulli A, Mura R, Mercuro G
J Matern Fetal Neonatal Med 2011 Oct;24 Suppl 2:3-5. Epub 2011 Aug 30 doi: 10.3109/14767058.2011.604932. PMID: 21749300

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
Fyksen TS, Vanberg P, Gjesdal K, von Lueder TG, Bjørnerheim R, Steine K, Atar D, Halvorsen S
Scand J Med Sci Sports 2022 Aug;32(8):1170-1181. Epub 2022 May 4 doi: 10.1111/sms.14172. PMID: 35460300Free PMC Article
Benedicto I, Dorado B, Andrés V
Cells 2021 May 11;10(5) doi: 10.3390/cells10051157. PMID: 34064612Free PMC Article
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
Bergman L, Nordlöf-Callbo P, Wikström AK, Snowden JM, Hesselman S, Edstedt Bonamy AK, Sandström A
Hypertension 2020 Jul;76(1):167-175. Epub 2020 Jun 1 doi: 10.1161/HYPERTENSIONAHA.120.14860. PMID: 32475315Free PMC Article
Bassareo PP, Fanos V, Crisafulli A, Mura R, Mercuro G
J Matern Fetal Neonatal Med 2011 Oct;24 Suppl 2:3-5. Epub 2011 Aug 30 doi: 10.3109/14767058.2011.604932. PMID: 21749300

Clinical prediction guides

Wang Y, Wang Y, Luan Y, Hao M, Yin W, Wu B, Zhu T, Zhu J, Zhou B, Tang L, Wang J, Wu J
J Med Internet Res 2025 Dec 15;27:e78402. doi: 10.2196/78402. PMID: 41397298Free 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
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
Fiorentino TV, Marini MA, Succurro E, Andreozzi F, Perticone M, Hribal ML, Sciacqua A, Perticone F, Sesti G
J Clin Endocrinol Metab 2018 Sep 1;103(9):3131-3143. doi: 10.1210/jc.2018-00468. PMID: 30020454
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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