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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorLatorre-Pellicer, Ana
dc.contributor.authorTrujillano Lidón, Laura
dc.contributor.authordel Rincón de la Villa, Julia
dc.contributor.authorPeña-Marco, Mónica
dc.contributor.authorGil Salvador, Marta
dc.contributor.authorLucia Campos, Cristina
dc.date.accessioned2023-07-03T07:47:22Z
dc.date.available2023-07-03T07:47:22Z
dc.date.issued2023-06-14
dc.identifier.citationEmmanuel Kok WM, Latorre-Pellicer A, Trujillano L, del Rincón J, Peña-Marco M, Gil-Salvador M, et al. Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder. J Clin Med. 2023 Jun 14;12(12):4052.
dc.identifier.issn2077-0383
dc.identifier.urihttps://hdl.handle.net/11351/9941
dc.descriptionNeurodevelopmental disorder; Congenital heart disease; Myocardial strain analysis
dc.description.abstractBackground: 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.
dc.language.isoeng
dc.publisherMDPI
dc.relation.ispartofseriesJournal of Clinical Medicine;12(12)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectMalalties mentals
dc.subjectCor - Malalties
dc.subjectHipertensió
dc.subject.meshHeart Diseases
dc.subject.meshNeurodevelopmental Disorders
dc.subject.meshHypertension
dc.titleHeart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3390/jcm12124052
dc.subject.decsenfermedades cardíacas
dc.subject.decstrastornos del desarrollo neurológico
dc.subject.decshipertensión
dc.relation.publishversionhttps://doi.org/10.3390/jcm12124052
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Latorre-Pellicer A, Del Rincón J, Peña-Marco M, Gil-Salvador M, Lucia-Campos C] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. [Trujillano L] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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