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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorDemolder, Anthony
dc.contributor.authorBianco, Lisa
dc.contributor.authorCaruanac, Maryanne
dc.contributor.authorCervi, Elena
dc.contributor.authorEvangelista Masip, Artur
dc.contributor.authorJondeau, Guillaume
dc.contributor.authorLópez Sainz, Angela
dc.contributor.authorSabaté Rotés Anna
dc.contributor.authorTeixido Tura, Gisela
dc.date.accessioned2022-09-07T12:22:02Z
dc.date.available2022-09-07T12:22:02Z
dc.date.issued2022-06
dc.identifier.citationDemolder A, Bianco L, Caruana M, Cervi E, Evangelista A, Jondeau G, et al. Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study. Eur J Med Genet. 2022 Jun;65(6):104503.
dc.identifier.issn1660-4601
dc.identifier.urihttp://hdl.handle.net/11351/8059
dc.descriptionArrhythmia; Heritable thoracic aortic disease
dc.description.abstractBackground Heritable thoracic aortic diseases (HTAD), typically entailing aortic complications, can be caused by pathogenic variants or likely pathogenic variants (PV/LPVs) in several genes, including fibrillin1 (FBN1), Actin Alpha2 (ACTA2) and genes encoding components of the transforming growth factor (TGF)-β signaling pathway. In addition to aortic complications, non-aortic cardiac disease such as impaired myocardial function and/or arrhythmia have been increasingly reported, mainly in Marfan syndrome with underlying FBN1 PV/LPVs and are acknowledged as additional causes of morbidity and mortality. The prevalence of these manifestations in the various HTAD entities is largely unknown. Methods This international multicentre retrospective study collected data on patients with HTAD presenting non-aortic cardiac disease. A total of 9 centers from 7 different countries participated. Patients 12 years or older carrying a PV/LPV in one of the following genes: FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3 and ACTA2 were screened. Non-aortic cardiac disease included impaired myocardial function and/or arrhythmia. Impaired myocardial function was defined as (a)symptomatic reduced ejection fraction (EF<50%). Arrhythmias included atrial fibrillation (AF), atrial flutter (AFL), ventricular tachycardia (VT), ventricular fibrillation (VF) and (aborted) sudden cardiac death (presumed arrhythmogenic) (SCD). Results Medical records of 3219 patients with HTAD were screened (2761, 385 and 73 carrying a PV/LPV in FBN1, in a TGF-β signaling gene and in ACTA2 respectively). Non-aortic cardiac disease was reported 142 times in 101 patients (3.1%) (age 37 [range 12–77] years, 39% female): 88 patients carrying an FBN1 PV/LPV and 13 carrying a PV/LPV in one of the TGF-β signaling genes. Neither impaired myocardial function nor arrhythmia was reported in screened patients carrying a PV/LPV in ACTA2. Among the 142 reported non-aortic cardiac diseases, 68 (48%) were impaired myocardial function, 47 (33%) were AF/AFL and 27 (19%) were VT/VF/SCD. Among the patients with non-aortic cardiac disease, prior cardiac surgery was noted in 80% and severe valvular disease (valvular surgery or severe valvular regurgitation) in 58%, while 18% of the patients developed non-aortic cardiac disease in the absence of any of the latter. Conclusions In patients with HTAD, arrhythmia and impaired myocardial function was reported in patients with PV/LPVs in FBN1 and in the TGF-β signaling genes and not in patients harboring PV/LPVs in ACTA2. Though infrequent, non-aortic cardiac disease should be acknowledged as potentially severe, also occurring in young patients with no underlying significant valvular or aortic disease.
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofseriesEuropean Journal of Medical Genetics;65(6)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectArrítmia
dc.subjectAorta - Malalties - Complicacions
dc.subjectMalalties congènites
dc.subject.meshAortic Diseases
dc.subject.mesh/complications
dc.subject.meshArrhythmias, Cardiac
dc.titleArrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1016/j.ejmg.2022.104503
dc.subject.decsenfermedades de la aorta
dc.subject.decs/complicaciones
dc.subject.decsarritmias cardíacas
dc.relation.publishversionhttps://doi.org/10.1016/j.ejmg.2022.104503
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Demolder A] Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Department of Cardiology, Ghent University Hospital, Ghent, Belgium. [Bianco L, Sabaté-Rotés A] Servei de Cardiologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Caruana M] Department of Cardiology, Mater Dei Hospital, Birkirkara Bypass, Malta. VASCERN HTAD Affiliated Partner Centre, Austria. [Cervi E] Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK. [Evangelista A, López-Sainz Á, Teixidó-Tura G] Servei de Cardiologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. CIBER-CV, Barcelona, Spain. VASCERN HTAD European Reference Centre, Belgium. [Jondeau G] VASCERN HTAD European Reference Centre, Belgium. Centre de référence pour le syndrome de Marfan et apparentés, AP-HP, Hôpital Bichat, Paris, France
dc.identifier.pmid35427808
dc.identifier.wos000821505600002
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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