| Página principal > Artículos > Heart disease characterization and myocardial strain analysis in patients with PACS1 Neurodevelopmental Disorder > MARC |
000126540 001__ 126540 000126540 005__ 20241125101145.0 000126540 0247_ $$2doi$$a10.3390/jcm12124052 000126540 0248_ $$2sideral$$a133984 000126540 037__ $$aART-2023-133984 000126540 041__ $$aeng 000126540 100__ $$0(orcid)0000-0002-4703-6620$$aLatorre-Pellicer, Ana$$uUniversidad de Zaragoza 000126540 245__ $$aHeart disease characterization and myocardial strain analysis in patients with PACS1 Neurodevelopmental Disorder 000126540 260__ $$c2023 000126540 5060_ $$aAccess copy available to the general public$$fUnrestricted 000126540 5203_ $$aBackground: PACS1 neurodevelopmental disorder (PACS1-NDD) (MIM# 615009) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. Heart disease (HD) is frequently present in individuals with PACS1-NDD, but a compressive review of these anomalies and an evaluation of cardiac function in a cohort of patients are lacking. Methods: (i) Cardiac evaluation in 11 PACS1-NDD patients was conducted using conventional echocardiography. (ii) Heart function was assessed by tissue Doppler imaging, and two-dimensional speckle tracking was performed in seven patients and matched controls. (iii) This systematic review focused on determining HD prevalence in individuals with PACS1-NDD. Results: In our cohort, 7 of 11 patients presented HD. (Among them, three cases of ascending aortic dilatation (AAD) were detected and one mitral valve prolapse (MVP).) None of the patients showed echocardiographic pathological values, and the left global longitudinal strain was not significantly different between patients and controls (patients −24.26 ± 5.89% vs. controls −20.19 ± 1.75%, p = 0.3176). In the literature review, almost 42% (42/100) of individuals with PACS1-NDD reportedly experienced HD. Septal defects were the most common malformation, followed by patent ductus arteriosus. Conclusions: Our results show a high prevalence of HD in PACS1-NDD patients; in this way, AAD and MVP are reported for the first time in this syndrome. Furthermore, a detailed cardiac function evaluation in our cohort did not reveal evidence of cardiac dysfunction in individuals with PACS1-NDD. Cardiology evaluation should be included for all individuals with Schuurs-Hoeijmakers syndrome. 000126540 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/DGA/B32-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/CP22-00105$$9info:eu-repo/grantAgreement/ES/ISCIII/FI20-00290$$9info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860 000126540 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000126540 590__ $$a3.0$$b2023 000126540 592__ $$a0.882$$b2023 000126540 591__ $$aMEDICINE, GENERAL & INTERNAL$$b59 / 329 = 0.179$$c2023$$dQ1$$eT1 000126540 593__ $$aMedicine (miscellaneous)$$c2023$$dQ1 000126540 594__ $$a5.7$$b2023 000126540 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000126540 700__ $$aTrujillano, Laura 000126540 700__ $$adel Rincón, Julia 000126540 700__ $$aPeña-Marco, Mónica 000126540 700__ $$0(orcid)0000-0001-6858-1575$$aGil-Salvador, Marta$$uUniversidad de Zaragoza 000126540 700__ $$aLucia-Campos, Cristina 000126540 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, María$$uUniversidad de Zaragoza 000126540 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, Beatriz$$uUniversidad de Zaragoza 000126540 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza 000126540 700__ $$0(orcid)0000-0002-0023-8137$$aAyerza-Casas, Ariadna$$uUniversidad de Zaragoza 000126540 700__ $$0(orcid)0000-0003-3203-6254$$aPié, Juan$$uUniversidad de Zaragoza 000126540 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología 000126540 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría 000126540 773__ $$g12, 12 (2023), 4052 [10 pp.]$$pJ. clin.med.$$tJournal of Clinical Medicine$$x2077-0383 000126540 8564_ $$s952158$$uhttps://zaguan.unizar.es/record/126540/files/texto_completo.pdf$$yVersión publicada 000126540 8564_ $$s2713920$$uhttps://zaguan.unizar.es/record/126540/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000126540 909CO $$ooai:zaguan.unizar.es:126540$$particulos$$pdriver 000126540 951__ $$a2024-11-22-12:04:20 000126540 980__ $$aARTICLE
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