{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T19:44:38Z","timestamp":1790019878136,"version":"4.0.1"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jccm-2022-0007_s_005\">\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>Noonan syndrome (NS) is a dominant autosomal disease, caused by mutations in genes involved in cell differentiation, growth and senescence, one of them being RAF1 mutation. Congenital heart disease may influence the prognosis of the disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jccm-2022-0007_s_006\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We report a case of an 18 month-old female patient who presented to our institute at the age of 2 months when she was diagnosed with obstructive hypertrophic cardiomyopathy, pulmonary infundibular and pulmonary valve stenosis, a small atrial septal defect and extrasystolic arrhythmia. She was born from healthy parents, a non-consanguineous marriage. Due to suggestive phenotype for NS molecular genetic testing for RASopathies was performed in a center abroad, establishing the presence of RAF-1 mutation. Following rapid progression of cardiac abnormalities, the surgical correction was performed at 14 months of age. In the early postoperative period, the patient developed episodes of sustained ventricular tachycardia with hemodynamic instability, for which associated treatment was instituted with successful conversion to sinus rhythm. At 3-month follow-up, the patient was hemodynamically stable in sinus rhythm.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jccm-2022-0007_s_007\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The presented case report certifies the importance of recognizing the genetic mutation in patients with NS, which allows predicting the severity of cardiac abnormalities and therefore establishing a proper therapeutic management of these patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.2478\/jccm-2022-0007","type":"journal-article","created":{"date-parts":[[2022,5,11]],"date-time":"2022-05-11T20:30:25Z","timestamp":1652301025000},"page":"126-130","source":"Crossref","is-referenced-by-count":3,"title":["RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology"],"prefix":"10.2478","volume":"8","author":[{"given":"Amalia","family":"F\u0103g\u0103r\u0103\u0219an","sequence":"first","affiliation":[{"name":"George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures , Targu Mures Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamida","family":"Al Hussein","sequence":"additional","affiliation":[{"name":"George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures , Targu Mures Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simina Elena","family":"Ghiragosian Rusu","sequence":"additional","affiliation":[{"name":"George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures , Targu Mures Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,5,12]]},"reference":[{"key":"2024042806022500211_j_jccm-2022-0007_ref_001","unstructured":"Bhambhani V, Muenke M. Noonan Syndrome. Am Fam Physician.2014 Jan 1; 89 (1): 37-43"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_002","doi-asserted-by":"crossref","unstructured":"Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet. 1985;21(3):493\u2013506.","DOI":"10.1002\/ajmg.1320210312"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_003","doi-asserted-by":"crossref","unstructured":"Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child. 2007;92(2):128\u2013132.","DOI":"10.1136\/adc.2006.104547"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_004","doi-asserted-by":"crossref","unstructured":"Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras\/MAPK pathway dysregulation. Curr Opin Genet Dev. 2009;19(3):230\u2013236.","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_005","unstructured":"Allanson JE, Roberts AE. Noonan syndrome. Gene-Tests: Reviews. National Center for Biotechnology Information. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1124 Accessed May 23, 2021."},{"key":"2024042806022500211_j_jccm-2022-0007_ref_006","doi-asserted-by":"crossref","unstructured":"Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: the changing phenotype. Am J Med Genet. 1985;21(3):507\u2013514.","DOI":"10.1002\/ajmg.1320210313"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_007","doi-asserted-by":"crossref","unstructured":"Baldassarre G, Mussa A, Dotta A, Banaudi E, Forzano S, Marinosci A, et al. Prenatal features of Noonan syndrome: prevalence and prognostic value. Prenat Diagn. 2011;31(10):949\u2013954.","DOI":"10.1002\/pd.2804"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_008","doi-asserted-by":"crossref","unstructured":"Natraj Setty H.S, Shankar S., Patil R., Santosh J., Yeriswamy M.C., Babu R. et al. Combined cardiac anomalies in Noonan syndrome: A case report. Int J Surg Case Rep. 2020; 72:32-36. Doi: 10.1016\/j.ijscr.2020.05.048. Epub 2020 May 30. PMID: 32506025; PMCID: PMC7276397.","DOI":"10.1016\/j.ijscr.2020.05.048"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_009","doi-asserted-by":"crossref","unstructured":"Colquitt JL, Noonan JA. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit. Heart Dis. 2014 Mar-Apr;9(2):144-50. Doi: 10.1111\/chd.12102. Epub 2013 Jun 10.","DOI":"10.1111\/chd.12102"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_010","doi-asserted-by":"crossref","unstructured":"Vujanovic M, Stankovic-Babic G., Cekic S. Noonan Syndrome \u2013 case report. Acta Medica Medianae. 2014; 53(2). UDC: 616007-053.2-071:617.7. Doi:10.5633\/amm.2014.0209","DOI":"10.5633\/amm.2014.0209"},{"key":"2024042806022500211_j_jccm-2022-0007_ref_011","doi-asserted-by":"crossref","unstructured":"Jaouadi H, Chehida AB, Kraoua L, Etchevers HC, Argiro L, Kasdallah N et al. 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