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