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Cardiovascular phenotype

MedGen UID:
833952
•Concept ID:
CN230736
•
Finding

Professional guidelines

PubMed

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
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
Clinical Potential of Targeting Fibroblast Growth Factor-23 and αKlotho in the Treatment of Uremic Cardiomyopathy.
Law JP, Price AM, Pickup L, Radhakrishnan A, Weston C, Jones AM, McGettrick HM, Chua W, Steeds RP, Fabritz L, Kirchhof P, Pavlovic D, Townend JN, Ferro CJ
J Am Heart Assoc 2020 Apr 7;9(7):e016041. Epub 2020 Mar 26 doi: 10.1161/JAHA.120.016041. PMID: 32212912Free PMC Article
NGS-Based genetic testing for heritable cardiovascular diseases. Specific requirements for obtaining informed consent.
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

Maternally inherited hypercholesterolemia does not modify the cardiovascular phenotype in familial hypercholesterolemia.
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
Effects of perinatal, late foetal, and early embryonic insults on the cardiovascular phenotype in experimental animal models and humans.
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
Preeclampsia As Modulator of Offspring Health.
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
Preeclampsia, prematurity and cardiovascular health in adult life.
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
Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology.
Mortensen KH, Andersen NH, Gravholt CH
Endocr Rev 2012 Oct;33(5):677-714. Epub 2012 Jun 15 doi: 10.1210/er.2011-1059. PMID: 22707402

Diagnosis

The heart in RASopathies.
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
Maternally inherited hypercholesterolemia does not modify the cardiovascular phenotype in familial hypercholesterolemia.
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
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
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
NGS-Based genetic testing for heritable cardiovascular diseases. Specific requirements for obtaining informed consent.
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
Effects of perinatal, late foetal, and early embryonic insults on the cardiovascular phenotype in experimental animal models and humans.
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

Therapy

Clinical Potential of Targeting Fibroblast Growth Factor-23 and αKlotho in the Treatment of Uremic Cardiomyopathy.
Law JP, Price AM, Pickup L, Radhakrishnan A, Weston C, Jones AM, McGettrick HM, Chua W, Steeds RP, Fabritz L, Kirchhof P, Pavlovic D, Townend JN, Ferro CJ
J Am Heart Assoc 2020 Apr 7;9(7):e016041. Epub 2020 Mar 26 doi: 10.1161/JAHA.120.016041. PMID: 32212912Free PMC Article
Cardiovascular phenotype and prognosis of patients with heart failure induced by cancer therapy.
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
Effects of perinatal, late foetal, and early embryonic insults on the cardiovascular phenotype in experimental animal models and humans.
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
The cardiovascular phenotype: impact on choice of glucose- lowering therapy.
Kalra S, Gupta Y, Kishor K
J Pak Med Assoc 2016 Apr;66(4):480-2. PMID: 27122283
Cardiovascular dysfunction in children conceived by assisted reproductive technologies.
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

The heart in RASopathies.
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
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
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
Cardiovascular phenotype and prognosis of patients with heart failure induced by cancer therapy.
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
Effects of perinatal, late foetal, and early embryonic insults on the cardiovascular phenotype in experimental animal models and humans.
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
Cardiovascular phenotype in Turner syndrome--integrating cardiology, genetics, and endocrinology.
Mortensen KH, Andersen NH, Gravholt CH
Endocr Rev 2012 Oct;33(5):677-714. Epub 2012 Jun 15 doi: 10.1210/er.2011-1059. PMID: 22707402

Clinical prediction guides

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
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
Maternally inherited hypercholesterolemia does not modify the cardiovascular phenotype in familial hypercholesterolemia.
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
One-Hour Postload Hyperglycemia: Implications for Prediction and Prevention of Type 2 Diabetes.
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
Preeclampsia, prematurity and cardiovascular health in adult life.
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
Selenistasis: epistatic effects of selenium on cardiovascular phenotype.
Joseph J, Loscalzo J
Nutrients 2013 Jan 31;5(2):340-58. doi: 10.3390/nu5020340. PMID: 23434902Free PMC Article

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