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For: Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012;164:442-8. [PMID: 22980313 DOI: 10.1016/j.ahj.2012.04.018] [Citation(s) in RCA: 121] [Impact Index Per Article: 9.3] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/07/2012] [Accepted: 04/22/2012] [Indexed: 12/21/2022]
Number Cited by Other Article(s)
1
Alromaihi M, Alrumaihi F, Alwanian WM, Alharbi HO, AlDuayji NN, Alfifi SM, Al-Doaiss AA, Alshabrmi FM, Thornbury W, Khan SU. A Multidimensional Approach to Understanding Genetic Diversity, Risk Stratification, and Personalized Interventions in Pediatric Hypertrophic Cardiomyopathy. Curr Probl Cardiol 2025;50:103040. [PMID: 40157517 DOI: 10.1016/j.cpcardiol.2025.103040] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2025] [Accepted: 03/26/2025] [Indexed: 04/01/2025]
2
Zenker M, Wolf CM. Cardiovascular aspects of Noonan syndrome and related disorders. MED GENET-BERLIN 2025;37:113-124. [PMID: 40207038 PMCID: PMC11976402 DOI: 10.1515/medgen-2025-2010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/11/2025]
3
Qie D, Zhai Y, Yang F, Li Y, Xu R. A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report. Front Genet 2025;16:1525941. [PMID: 40134720 PMCID: PMC11933015 DOI: 10.3389/fgene.2025.1525941] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/19/2024] [Accepted: 02/19/2025] [Indexed: 03/27/2025]  Open
4
Schmitt W, Diedrich C, Hamza TH, Meyer M, Eissing T, Breitenstein S, Rossano JW, Lipshultz SE. NT-proBNP for Predicting All-Cause Death and Heart Transplant in Children and Adults with Heart Failure. Pediatr Cardiol 2025;46:694-703. [PMID: 38722325 PMCID: PMC11842395 DOI: 10.1007/s00246-024-03489-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/30/2024] [Accepted: 04/01/2024] [Indexed: 02/21/2025]
5
De Brouchoven I, Lorand J, Bofferding L, Sorlin A, Van Damme A, Danhaive O. Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome. Front Pediatr 2025;13:1475143. [PMID: 40041314 PMCID: PMC11876372 DOI: 10.3389/fped.2025.1475143] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/02/2024] [Accepted: 01/28/2025] [Indexed: 03/06/2025]  Open
6
Santoro M, Barisic I, Coi A, Tan J, Garne E, Loane M, Odak L, Abate MV, Ballardini E, Cavero-Carbonell C, Gatt M, Gissler M, Klungsøyr K, Lelong N, Tucker D, Wellesley D, Morris JK. Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study. Orphanet J Rare Dis 2025;20:76. [PMID: 39962527 PMCID: PMC11834245 DOI: 10.1186/s13023-025-03594-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2024] [Accepted: 02/03/2025] [Indexed: 02/20/2025]  Open
7
Zhou Y, Yang K, Ma K, Lu M. LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review. ESC Heart Fail 2025;12:664-667. [PMID: 39145467 PMCID: PMC11769602 DOI: 10.1002/ehf2.15014] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/16/2024] [Revised: 07/08/2024] [Accepted: 07/16/2024] [Indexed: 08/16/2024]  Open
8
Wolf CM, Zenker M, Boleti O, Norrish G, Russell M, Meisner JK, Peng DM, Prendiville T, Kleinmahon J, Kantor PF, Gottlieb Sen D, Human DG, Ewert P, Krueger M, Reber D, Donner B, Hart C, Odri Komazec I, Rupp S, Hahn A, Hanser A, Hofbeck M, Draaisma JMT, Udink Ten Cate FEA, Mussa A, Ferrero GB, Vaujois L, Raboisson MJ, Delrue MA, Marquis C, Théoret Y, Bogarapu S, Dancea A, Handrup MM, Kemna M, Ojala T, Dham N, Dicke F, Friede T, Kaski JP, Gelb BD, Andelfinger G. Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy. JACC Basic Transl Sci 2025;10:152-166. [PMID: 40131150 PMCID: PMC11897442 DOI: 10.1016/j.jacbts.2024.10.002] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/14/2024] [Revised: 09/03/2024] [Accepted: 10/01/2024] [Indexed: 03/26/2025]
9
Wang S, Peng D. Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1. ESC Heart Fail 2024;11:4450-4455. [PMID: 38982897 PMCID: PMC11631276 DOI: 10.1002/ehf2.14944] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2024] [Revised: 05/06/2024] [Accepted: 06/20/2024] [Indexed: 07/11/2024]  Open
10
Chan RH, van der Wal L, Liberato G, Rowin E, Soslow J, Maskatia S, Chan S, Shah A, Fogel M, Hernandez L, Anwar S, Voges I, Carlsson M, Buddhe S, Laser KT, Greil G, Valsangiacomo-Buechel E, Olivotto I, Wong D, Wolf C, Grotenhuis H, Rickers C, Hor K, Rutz T, Kutty S, Samyn M, Johnson T, Hasbani K, Moore JP, Sieverding L, Detterich J, Parra R, Chungsomprasong P, Toro-Salazar O, Roest AAW, Dittrich S, Brun H, Spinner J, Lai W, Dyer A, Jablonowsk R, Meierhofer C, Gabbert D, Prsa M, Patel JK, Hornung A, Diab SG, House AV, Rakowski H, Benson L, Maron MS, Grosse-Wortmann L. Myocardial Scarring and Sudden Cardiac Death in Young Patients With Hypertrophic Cardiomyopathy: A Multicenter Cohort Study. JAMA Cardiol 2024;9:1001-1008. [PMID: 39320884 PMCID: PMC11425184 DOI: 10.1001/jamacardio.2024.2824] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/22/2024] [Accepted: 07/15/2024] [Indexed: 09/26/2024]
11
Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L. Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome. Cell Rep 2024;43:114448. [PMID: 39003740 DOI: 10.1016/j.celrep.2024.114448] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2024] [Revised: 04/03/2024] [Accepted: 06/20/2024] [Indexed: 07/16/2024]  Open
12
Amdani S, Conway J, George K, Martinez HR, Asante-Korang A, Goldberg CS, Davies RR, Miyamoto SD, Hsu DT. Evaluation and Management of Chronic Heart Failure in Children and Adolescents With Congenital Heart Disease: A Scientific Statement From the American Heart Association. Circulation 2024;150:e33-e50. [PMID: 38808502 DOI: 10.1161/cir.0000000000001245] [Citation(s) in RCA: 12] [Impact Index Per Article: 12.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 05/30/2024]
13
Chaput D, Andelfinger G. MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept. Can J Cardiol 2024;40:789-799. [PMID: 38432396 DOI: 10.1016/j.cjca.2024.02.020] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/11/2023] [Revised: 02/13/2024] [Accepted: 02/15/2024] [Indexed: 03/05/2024]  Open
14
Townsend M, Jeewa A, Khoury M, Cunningham C, George K, Conway J. Unique Aspects of Hypertrophic Cardiomyopathy in Children. Can J Cardiol 2024;40:907-920. [PMID: 38244986 DOI: 10.1016/j.cjca.2024.01.013] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/11/2023] [Revised: 01/03/2024] [Accepted: 01/14/2024] [Indexed: 01/22/2024]  Open
15
Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP. Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry. Eur Heart J 2024;45:1443-1454. [PMID: 38427064 PMCID: PMC11448693 DOI: 10.1093/eurheartj/ehae109] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/18/2022] [Revised: 02/05/2024] [Accepted: 02/08/2024] [Indexed: 03/02/2024]  Open
16
Boleti O, Norrish G, Field E, Dady K, Summers K, Nepali G, Bhole V, Uzun O, Wong A, Daubeney PEF, Stuart G, Fernandes P, McLeod K, Ilina M, Ali MNL, Bharucha T, Donne GD, Brown E, Linter K, Jones CB, Searle J, Regan W, Mathur S, Boyd N, Reinhardt Z, Duignan S, Prendiville T, Adwani S, Kaski JP. Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy. ESC Heart Fail 2024;11:923-936. [PMID: 38217456 PMCID: PMC10966228 DOI: 10.1002/ehf2.14637] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2023] [Revised: 10/24/2023] [Accepted: 11/23/2023] [Indexed: 01/15/2024]  Open
17
Knauer C, Haltern H, Schoger E, Kügler S, Roos L, Zelarayán LC, Hasenfuss G, Zimmermann WH, Wollnik B, Cyganek L. Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants. MOLECULAR THERAPY. NUCLEIC ACIDS 2024;35:102123. [PMID: 38333672 PMCID: PMC10851011 DOI: 10.1016/j.omtn.2024.102123] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 02/01/2023] [Accepted: 01/18/2024] [Indexed: 02/10/2024]
18
Hauptmeijer RWL, Lippert L, Ten Cate FEAU, Fejzic Z, Leenders E, Wolf CM, Draaisma JMT. Differentiating primary sarcomeric hypertrophic cardiomyopathy from Noonan syndrome: can the electrocardiogram be of use? Cardiol Young 2024;34:597-603. [PMID: 37649442 DOI: 10.1017/s1047951123003177] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 09/01/2023]
19
Zheng J, Peng L, Cheng R, Li Z, Xie J, Huang E, Cheng J, Zhao Q. RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome. Mol Genet Genomic Med 2024;12:e2290. [PMID: 37787490 PMCID: PMC10767430 DOI: 10.1002/mgg3.2290] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/15/2023] [Revised: 09/10/2023] [Accepted: 09/19/2023] [Indexed: 10/04/2023]  Open
20
Yi JS, Perla S, Bennett AM. An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies. Cardiovasc Drugs Ther 2023;37:1193-1204. [PMID: 35156148 PMCID: PMC11726350 DOI: 10.1007/s10557-022-07324-0] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 02/03/2022] [Indexed: 12/14/2022]
21
Nguyen SN, Chung MM, Vinogradsky AV, Richmond ME, Zuckerman WA, Goldstone AB, Bacha EA. Long-term outcomes of surgery for obstructive hypertrophic cardiomyopathy in a pediatric cohort. JTCVS OPEN 2023;16:726-738. [PMID: 38204697 PMCID: PMC10775098 DOI: 10.1016/j.xjon.2023.09.032] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 05/21/2023] [Revised: 09/18/2023] [Accepted: 09/21/2023] [Indexed: 01/12/2024]
22
Kim ST, Lee SY, Kim GB, Bae EJ, Ko JM, Song MK. Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era. J Pediatr 2023;262:113351. [PMID: 36806754 DOI: 10.1016/j.jpeds.2022.12.045] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/14/2022] [Revised: 11/07/2022] [Accepted: 12/25/2022] [Indexed: 02/19/2023]
23
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J 2023;44:3503-3626. [PMID: 37622657 DOI: 10.1093/eurheartj/ehad194] [Citation(s) in RCA: 912] [Impact Index Per Article: 456.0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 08/26/2023]  Open
24
Mukhtar G, Sasidharan B, Krishnamoorthy KM, Kurup HKN, Gopalakrishnan A, SasiKumar D, P SS, Valaparambil AK, Sivasubramonian S, Sivadasanpillai H. Clinical profile and outcomes of pediatric hypertrophic cardiomyopathy in a South Indian tertiary care cardiac center: a three decade experience. BMC Pediatr 2023;23:446. [PMID: 37679699 PMCID: PMC10483701 DOI: 10.1186/s12887-023-04255-z] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/04/2022] [Accepted: 08/17/2023] [Indexed: 09/09/2023]  Open
25
Griffeth EM, Dearani JA, Schaff HV, Johnson JN, Ackerman MJ, Bos JM, Alzate-Aguirre M, Todd A, Cannon BC, Wackel PL, Stephens EH. Septal Myectomy Outcomes in Children and Adolescents With Obstructive Hypertrophic Cardiomyopathy. Ann Thorac Surg 2023;116:499-507. [PMID: 37116851 PMCID: PMC10524729 DOI: 10.1016/j.athoracsur.2023.04.021] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/11/2022] [Revised: 03/15/2023] [Accepted: 04/04/2023] [Indexed: 04/30/2023]
26
Cheong D, Eisenberg R, Lamour JM, Hsu DT, Choi J, Bansal N. Waitlist and Posttransplant Outcomes of Children and Young Adults With Hypertrophic Cardiomyopathy. Ann Thorac Surg 2023;116:588-597. [PMID: 35690136 DOI: 10.1016/j.athoracsur.2022.05.037] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/23/2021] [Revised: 04/20/2022] [Accepted: 05/22/2022] [Indexed: 11/01/2022]
27
Östman-Smith I. Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations. CIRCULATION. GENOMIC AND PRECISION MEDICINE 2023;16:359-362. [PMID: 37325916 DOI: 10.1161/circgen.123.004206] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/17/2023]
28
Monda E, Prosnitz A, Aiello R, Lioncino M, Norrish G, Caiazza M, Drago F, Beattie M, Tartaglia M, Russo MG, Colan SD, Calcagni G, Gelb BD, Kaski JP, Roberts AE, Limongelli G. Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines. CIRCULATION. GENOMIC AND PRECISION MEDICINE 2023;16:350-358. [PMID: 37199218 PMCID: PMC11791648 DOI: 10.1161/circgen.122.003861] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/20/2022] [Accepted: 03/10/2023] [Indexed: 05/19/2023]
29
Hilal N, Chen Z, Chen MH, Choudhury S. RASopathies and cardiac manifestations. Front Cardiovasc Med 2023;10:1176828. [PMID: 37529712 PMCID: PMC10387527 DOI: 10.3389/fcvm.2023.1176828] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2023] [Accepted: 06/20/2023] [Indexed: 08/03/2023]  Open
30
Bogle C, Colan SD, Miyamoto SD, Choudhry S, Baez-Hernandez N, Brickler MM, Feingold B, Lal AK, Lee TM, Canter CE, Lipshultz SE. Treatment Strategies for Cardiomyopathy in Children: A Scientific Statement From the American Heart Association. Circulation 2023;148:174-195. [PMID: 37288568 DOI: 10.1161/cir.0000000000001151] [Citation(s) in RCA: 7] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 06/09/2023]
31
Tsatsopoulou A, Protonotarios I, Xylouri Z, Papagiannis I, Anastasakis A, Germanakis I, Patrianakos A, Nyktari E, Gavras C, Papadopoulos G, Meditskou S, Lazarou E, Miliou A, Lazaros G. Cardiomyopathies in children: An overview. Hellenic J Cardiol 2023;72:43-56. [PMID: 36870438 DOI: 10.1016/j.hjc.2023.02.007] [Citation(s) in RCA: 14] [Impact Index Per Article: 7.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/20/2022] [Revised: 02/14/2023] [Accepted: 02/24/2023] [Indexed: 03/06/2023]  Open
32
Kaski JP, Kammeraad JAE, Blom NA, Happonen JM, Janousek J, Klaassen S, Limongelli G, Östman-Smith I, Sarquella Brugada G, Ziolkowska L. Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy. Cardiol Young 2023;33:681-698. [PMID: 37102324 DOI: 10.1017/s1047951123000872] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 04/28/2023]
33
Sebastian SA, Panthangi V, Singh K, Rayaroth S, Gupta A, Shantharam D, Rasool BQ, Padda I, Co EL, Johal G. Hypertrophic Cardiomyopathy: Current Treatment and Future Options. Curr Probl Cardiol 2023;48:101552. [PMID: 36529236 DOI: 10.1016/j.cpcardiol.2022.101552] [Citation(s) in RCA: 6] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/07/2022] [Accepted: 12/12/2022] [Indexed: 12/23/2022]
34
Ackerman MJ, Garmany R. RASopathy-Associated Cardiac Hypertrophy: A Shocking Gap in Care. J Am Coll Cardiol 2023;81:1046-1048. [PMID: 36922090 DOI: 10.1016/j.jacc.2023.01.013] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/11/2023] [Accepted: 01/12/2023] [Indexed: 03/18/2023]
35
Lynch A, Tatangelo M, Ahuja S, Steve Fan CP, Min S, Lafreniere-Roula M, Papaz T, Zhou V, Armstrong K, Aziz PF, Benson LN, Butts R, Dragulescu A, Gardin L, Godown J, Jeewa A, Kantor PF, Kaufman BD, Lal AK, Parent JJ, Richmond M, Russell MW, Balaji S, Stephenson EA, Villa C, Jefferies JL, Whitehill R, Conway J, Howard TS, Nakano SJ, Rossano J, Weintraub RG, Mital S. Risk of Sudden Death in Patients With RASopathy Hypertrophic Cardiomyopathy. J Am Coll Cardiol 2023;81:1035-1045. [PMID: 36922089 DOI: 10.1016/j.jacc.2023.01.012] [Citation(s) in RCA: 16] [Impact Index Per Article: 8.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/26/2022] [Revised: 11/29/2022] [Accepted: 01/09/2023] [Indexed: 03/18/2023]
36
Thakkar K, Karajgi AR, Kallamvalappil AM, Avanthika C, Jhaveri S, Shandilya A, Anusheel, Al-Masri R. Sudden cardiac death in childhood hypertrophic cardiomyopathy. Dis Mon 2023;69:101548. [PMID: 36931945 DOI: 10.1016/j.disamonth.2023.101548] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/17/2023]
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Gelb BD, Yohe ME, Wolf C, Andelfinger G. New prospectives on treatment opportunities in RASopathies. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS 2022;190:541-560. [PMID: 36533679 PMCID: PMC10150944 DOI: 10.1002/ajmg.c.32024] [Citation(s) in RCA: 19] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/03/2022] [Revised: 11/18/2022] [Accepted: 11/25/2022] [Indexed: 12/24/2022]
38
Helenius K, Parkkola R, Arola A, Peltola V, Haanpää MK. Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome. Eur J Med Genet 2022;65:104626. [PMID: 36155125 DOI: 10.1016/j.ejmg.2022.104626] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/22/2022] [Revised: 07/26/2022] [Accepted: 09/19/2022] [Indexed: 11/25/2022]
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Nakano TA, Rankin AW, Annam A, Kulungowski AM, McCallen LM, Hill LR, Chatfield KC. Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome. J Pediatr 2022;248:81-88.e1. [PMID: 35605646 DOI: 10.1016/j.jpeds.2022.05.030] [Citation(s) in RCA: 22] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/18/2022] [Revised: 05/10/2022] [Accepted: 05/17/2022] [Indexed: 10/18/2022]
40
Leegaard A, Gregersen PA, Nielsen TØ, Bjerre JV, Handrup MM. Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome. Eur J Med Genet 2022;65:104630. [DOI: 10.1016/j.ejmg.2022.104630] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/15/2022] [Accepted: 09/26/2022] [Indexed: 11/29/2022]
41
Tsuda E, Ito Y, Kato Y, Sakaguchi H, Ohuchi H, Kurosaki K. Thirty-year outcome in children with hypertrophic cardiomyopathy based on the type. J Cardiol 2022;80:557-562. [PMID: 35961804 DOI: 10.1016/j.jjcc.2022.07.016] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/08/2022] [Revised: 07/07/2022] [Accepted: 07/11/2022] [Indexed: 11/17/2022]
42
Sun L, Xie YM, Wang SS, Zhang ZW. Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome. Front Genet 2022;13:915129. [PMID: 35770001 PMCID: PMC9234298 DOI: 10.3389/fgene.2022.915129] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/07/2022] [Accepted: 05/23/2022] [Indexed: 11/20/2022]  Open
43
The added value of the electrocardiogram in Noonan syndrome. Cardiol Young 2022;32:936-943. [PMID: 34382536 DOI: 10.1017/s1047951121003310] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/27/2023]
44
Cardiac features of Noonan syndrome in Japanese patients. Cardiol Young 2022;33:564-569. [PMID: 35475426 DOI: 10.1017/s104795112200124x] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/07/2022]
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Trakmulkichkarn T, Ghadiry-Tavi R, Fruitman D, Niederhoffer KY, Caluseriu O, Lauzon JL, Wewala G, Hornberger LK, Urschel S, Conway J, McBrien A. Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2022;59:325-334. [PMID: 34159662 DOI: 10.1002/uog.23713] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/08/2021] [Revised: 06/07/2021] [Accepted: 06/14/2021] [Indexed: 06/13/2023]
46
Leoni C, Blandino R, Delogu AB, De Rosa G, Onesimo R, Verusio V, Marino MV, Lanza GA, Rigante D, Tartaglia M, Zampino G. Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review. Am J Med Genet A 2022;188:431-445. [PMID: 34643321 DOI: 10.1002/ajmg.a.62529] [Citation(s) in RCA: 25] [Impact Index Per Article: 8.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/14/2021] [Revised: 08/11/2021] [Accepted: 09/21/2021] [Indexed: 11/07/2022]
47
Meier AB, Raj Murthi S, Rawat H, Toepfer CN, Santamaria G, Schmid M, Mastantuono E, Schwarzmayr T, Berutti R, Cleuziou J, Ewert P, Görlach A, Klingel K, Laugwitz KL, Seidman CE, Seidman JG, Moretti A, Wolf CM. Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome. iScience 2022;25:103596. [PMID: 34988410 PMCID: PMC8704485 DOI: 10.1016/j.isci.2021.103596] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2021] [Revised: 11/10/2021] [Accepted: 12/04/2021] [Indexed: 11/06/2022]  Open
48
Zha P, Kong Y, Wang L, Wang Y, Qing Q, Dai L. Noonan syndrome caused by RIT1 gene mutation: A case report and literature review. Front Pediatr 2022;10:934808. [PMID: 36160792 PMCID: PMC9490085 DOI: 10.3389/fped.2022.934808] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/15/2022] [Accepted: 08/18/2022] [Indexed: 11/26/2022]  Open
49
Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G. Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management. Heart Fail Clin 2022;18:19-29. [PMID: 34776080 PMCID: PMC9674037 DOI: 10.1016/j.hfc.2021.07.004] [Citation(s) in RCA: 34] [Impact Index Per Article: 11.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
50
Butler MG, Miller BS, Romano A, Ross J, Abuzzahab MJ, Backeljauw P, Bamba V, Bhangoo A, Mauras N, Geffner M. Genetic conditions of short stature: A review of three classic examples. Front Endocrinol (Lausanne) 2022;13:1011960. [PMID: 36339399 PMCID: PMC9634554 DOI: 10.3389/fendo.2022.1011960] [Citation(s) in RCA: 13] [Impact Index Per Article: 4.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/04/2022] [Accepted: 09/20/2022] [Indexed: 11/30/2022]  Open
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