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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
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
Alkaline phosphatase: a novel treatment target for cardiovascular disease in CKD.
Haarhaus M, Brandenburg V, Kalantar-Zadeh K, Stenvinkel P, Magnusson P
Nat Rev Nephrol 2017 Jul;13(7):429-442. Epub 2017 May 15 doi: 10.1038/nrneph.2017.60. PMID: 28502983

Recent clinical studies

Etiology

Clinical and Non-Clinical Cardiovascular Disease Associated Pathologies in Parkinson's Disease.
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
Trends in Congenital Heart Defects in Infants With Down Syndrome.
Bergström S, Carr H, Petersson G, Stephansson O, Bonamy AK, Dahlström A, Halvorsen CP, Johansson S
Pediatrics 2016 Jul;138(1) Epub 2016 Jun 1 doi: 10.1542/peds.2016-0123. PMID: 27252035
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
Cardiovascular phenotype in extremely low birth weight infants: long-term consequences.
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
Reduced thromboxane biosynthesis in carriers of toll-like receptor 4 polymorphisms in vivo.
Patrignani P, Di Febbo C, Tacconelli S, Moretta V, Baccante G, Sciulli MG, Ricciotti E, Capone ML, Antonucci I, Guglielmi MD, Stuppia L, Porreca E
Blood 2006 May 1;107(9):3572-4. Epub 2006 Jan 5 doi: 10.1182/blood-2005-12-4811. PMID: 16397127

Diagnosis

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M
Eur J Hum Genet 2023 May;31(5):596-601. Epub 2023 Jan 4 doi: 10.1038/s41431-022-01279-4. PMID: 36599937Free PMC Article
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
Trends in Congenital Heart Defects in Infants With Down Syndrome.
Bergström S, Carr H, Petersson G, Stephansson O, Bonamy AK, Dahlström A, Halvorsen CP, Johansson S
Pediatrics 2016 Jul;138(1) Epub 2016 Jun 1 doi: 10.1542/peds.2016-0123. PMID: 27252035
Cardiovascular phenotype in extremely low birth weight infants: long-term consequences.
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
Maternal involvement in the development of cardiovascular phenotype.
McCarty R, Cierpial MA, Murphy CA, Lee JH, Fields-Okotcha C
Experientia 1992 Apr 15;48(4):315-22. doi: 10.1007/BF01923425. PMID: 1582491

Therapy

Muscarinic control of cardiovascular function in humans: a review of current clinical evidence.
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
Molecular and Cellular Mechanisms Driving Cardiovascular Disease in Hutchinson-Gilford Progeria Syndrome: Lessons Learned from Animal Models.
Benedicto I, Dorado B, Andrés V
Cells 2021 May 11;10(5) doi: 10.3390/cells10051157. PMID: 34064612Free 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 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

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M
Eur J Hum Genet 2023 May;31(5):596-601. Epub 2023 Jan 4 doi: 10.1038/s41431-022-01279-4. PMID: 36599937Free PMC Article
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 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
Cardiovascular phenotype in extremely low birth weight infants: long-term consequences.
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

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M
Eur J Hum Genet 2023 May;31(5):596-601. Epub 2023 Jan 4 doi: 10.1038/s41431-022-01279-4. PMID: 36599937Free PMC Article
Clinical cardiovascular phenotypes and the pattern of future events in patients with type 2 diabetes.
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
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
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

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