dc.contributor.author
Al‐Wakeel‐Marquard, Nadya
dc.contributor.author
Degener, Franziska
dc.contributor.author
Herbst, Christopher
dc.contributor.author
Kühnisch, Jirko
dc.contributor.author
Dartsch, Josephine
dc.contributor.author
Schmitt, Boris
dc.contributor.author
Kuehne, Titus
dc.contributor.author
Messroghli, Daniel
dc.contributor.author
Berger, Felix
dc.contributor.author
Klaassen, Sabine
dc.date.accessioned
2021-12-02T14:42:26Z
dc.date.available
2021-12-02T14:42:26Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/32967
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-32693
dc.description.abstract
Background: Cardiomyopathies are heterogeneous diseases with clinical presentations varying from asymptomatic to life-threatening events, including severe heart failure and sudden cardiac death. The role of underlying genetic and disease-modulating factors in children and adolescents is relatively unknown. In this prospective study, in-depth phenotypic and genetic characterization of pediatric patients with primary cardiomyopathy and their first-degree family members (FMs) was performed. Outcome was assessed to identify clinical risk factors.
Methods and Results: Sixty index patients with primary cardiomyopathy (median age: 7.8 years) and 124 FMs were enrolled in the RIKADA (Risk Stratification in Children and Adolescents with Primary Cardiomyopathy) study. Family screening included cardiac workup and genetic testing. Using cardiologic screening, we identified 17 FMs with cardiomyopathies and 30 FMs with suspected cardiomyopathies. Adverse events appeared in 32% of index patients and were more common in those with lower body surface area (P=0.019), increased NT-proBNP (N-terminal pro-brain natriuretic peptide; P<0.001), and left ventricular dysfunction (P<0.001) and dilatation (P=0.005). The worst prognosis was observed in dilated and restrictive cardiomyopathies. Genetic variants of interest were detected in patients (79%) and FMs (67%). In all 15 families with at least 1 FM with cardiomyopathy, we found a variant of interest in the index patient. Increased number of variants of interest per patient was associated with adverse events (P=0.021). Late gadolinium enhancement was related to positive genotypes in patients (P=0.041).
Conclusions: Lower body surface area, increased NT-proBNP, left ventricular dysfunction or dilatation, late gadolinium enhancement, and increased number of variants of interest were associated with adverse outcome and should be considered for risk assessment in pediatric primary cardiomyopathies.
Clinical Trial Registration: URL: https://www.clinicaltrials.gov/. Unique identifier: NCT03572569.
en
dc.rights.uri
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject
cardiomyopathy
en
dc.subject
heart failure
en
dc.subject
risk assessment
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.articlenumber
e012531
dcterms.bibliographicCitation.doi
10.1161/jaha.119.012531
dcterms.bibliographicCitation.journaltitle
Journal of the American Heart Association
dcterms.bibliographicCitation.number
15
dcterms.bibliographicCitation.originalpublishername
Wiley
dcterms.bibliographicCitation.volume
8
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.funding
DEAL Wiley
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
31333075
dcterms.isPartOf.eissn
2047-9980