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Verfasst von:Kayvanpour, Elham [VerfasserIn]   i
 Sedaghat-Hamedani, Farbod [VerfasserIn]   i
 Amr, Ali [VerfasserIn]   i
 Lai, Chung Lun Alan [VerfasserIn]   i
 Haas, Jan [VerfasserIn]   i
 Holzer, Daniel Benjamin [VerfasserIn]   i
 Frese, Karen S. [VerfasserIn]   i
 Jensen, Katrin [VerfasserIn]   i
 Katus, Hugo [VerfasserIn]   i
 Meder, Benjamin [VerfasserIn]   i
Titel:Genotype-phenotype associations in dilated cardiomyopathy
Titelzusatz:meta-analysis on more than 8000 individuals
Verf.angabe:Elham Kayvanpour, Farbod Sedaghat-Hamedani, Ali Amr, Alan Lai, Jan Haas, Daniel B. Holzer, Karen S. Frese, Andreas Keller, Katrin Jensen, Hugo A. Katus, Benjamin Meder
Jahr:2017
Umfang:13 S.
Fussnoten:Published online: 30 August 2016 ; Gesehen am 31.07.2018
Titel Quelle:Enthalten in: Clinical research in cardiology
Ort Quelle:Berlin : Springer, 2006
Jahr Quelle:2017
Band/Heft Quelle:106(2017), 2, Seite 127-139
ISSN Quelle:1861-0692
Abstract:AimsRoutine genetic testing in Dilated Cardiomyopathy (DCM) has recently become reality using Next-Generation Sequencing. Several studies have explored the relationship between genotypes and clinical phenotypes to support risk estimation and therapeutic decisions, however, most studies are small or restricted to a few genes. This study provides to our knowledgke the first systematic meta-analysis on genotype-phenotype associations in DCM.Methods and resultsWe retrieved PubMed/Medline literature on genotype-phenotype associations in patients with DCM and mutations in LMNA, PLN, RBM20, MYBPC3, MYH7, TNNT2 and TNNI3. We summarized and extensively reviewed all studies that passed selection criteria and performed a meta-analysis on key phenotypic parameters. Together, 48 studies with 8097 patients were included. Furthermore, we reviewed recent studies investigating genotype-phenotype associations in DCM patients with TTN mutations. The average frequency of mutations in the investigated genes was between 1 and 5 %. The mean age of DCM onset was the beginning of the fifth decade for all genes. Heart transplantation (HTx) rate was highest in LMNA mutation carriers (27 %), while RBM20 mutation carriers were transplanted at a markedly younger age (mean 28.5 years). While 73 % of DCM patients with LMNA mutations showed cardiac conduction diseases, low voltage was the reported ECG hallmark in PLN mutation carriers. The frequency of ventricular arrhythmia in DCM patients with LMNA (50 %) and PLN (43 %) mutations was significantly higher. The penetrance of DCM phenotype in subjects with TTN truncating variants increased with age and reached 100 % by age of 70.ConclusionA pooled analysis of available genotype-phenotype data shows a higher prevalence of sudden cardiac death (SCD), cardiac transplantation, or ventricular arrhythmias in LMNA and PLN mutation carriers compared to sarcomeric gene mutations. This study will further support the clinical interpretation of genetic findings.
DOI:doi:10.1007/s00392-016-1033-6
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: http://dx.doi.org/10.1007/s00392-016-1033-6
 Volltext: https://link.springer.com/article/10.1007/s00392-016-1033-6
 DOI: https://doi.org/10.1007/s00392-016-1033-6
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1578077788
Verknüpfungen:→ Zeitschrift

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