Clinical and genetic insights into non-compaction

• Verfasst von: Kayvanpour, Elham [VerfasserIn]
• Verfasst von: Sedaghat-Hamedani, Farbod [VerfasserIn]
• Verfasst von: Gi, Weng-Tein [VerfasserIn]
• Verfasst von: Amr, Ali [VerfasserIn]
• Verfasst von: Haas, Jan [VerfasserIn]
• Verfasst von: Ehlermann, Philipp [VerfasserIn]
• Verfasst von: Uhlmann, Lorenz [VerfasserIn]
• Verfasst von: Katus, Hugo [VerfasserIn]
• Verfasst von: Meder, Benjamin [VerfasserIn]
• Titel: Clinical and genetic insights into non-compaction
• Titelzusatz: a meta-analysis and systematic review on 7598 individuals
• Verf.angabe: Elham Kayvanpour, Farbod Sedaghat-Hamedani, Weng-Tein Gi, Oguz Firat Tugrul, Ali Amr, Jan Haas, Feng Zhu, Philipp Ehlermann, Lorenz Uhlmann, Hugo A. Katus, Benjamin Meder
• E-Jahr: 2019
• Jahr: 12 April 2019
• Umfang: 12 S.
• Fussnoten: Gesehen am 27.11.2019
• Titel Quelle: Enthalten in: Clinical research in cardiology
• Ort Quelle: Berlin : Springer, 2006
• Jahr Quelle: 2019
• Band/Heft Quelle: 108(2019), 11, Seite 1297-1308
• ISSN Quelle: 1861-0692
• DOI: doi:10.1007/s00392-019-01465-3
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Clinical outcome
• Sach-SW: Genetic background
• Sach-SW: Left ventricular non-compaction
• K10plus-PPN: 1683657063

Abstract

Background: Left ventricular non-compaction has been increasingly diagnosed in recent years. However, it is still debated whether non-compaction is a pathological condition or a physiological trait. In this meta-analysis and systematic review, we compare studies, which investigated these two different perspectives. Furthermore, we provide a comprehensive overview on the clinical outcome as well as genetic background of left ventricular non-compaction cardiomyopathy in adult patients. Methods and results: We retrieved PubMed/Medline literatures in English language from 2000 to 19/09/2018 on clinical outcome and genotype of patients with non-compaction. We summarized and extensively reviewed all studies that passed selection criteria and performed a meta-analysis on key phenotypic parameters. Altogether, 35 studies with 2271 non-compaction patients were included in our meta-analysis. The mean age at diagnosis was the mid of their fifth decade. Two-thirds of patients were male. Congenital heart diseases including atrial or ventricular septum defect or Ebstein anomaly were reported in 7% of patients. Twenty-four percent presented with family history of cardiomyopathy. The mean frequency of neuromuscular diseases was 5%. Heart rhythm abnormalities were reported frequently: conduction disease in 26%, supraventricular tachycardia in 17%, and sustained or non-sustained ventricular tachycardia in 18% of patients. Three important outcome measures were reported including systemic thromboembolic events with a mean frequency of 9%, heart transplantation with 4%, and adequate ICD therapy with 15%. Nine studies investigated the genetics of non-compaction cardiomyopathy. The most frequently mutated gene was TTN with a pooled frequency of 11%. The average frequency of MYH7 mutations was 9%, for MYBPC3 mutations 5%, and for CASQ2 and LDB3 3% each. TPM1, MIB1, ACTC1, and LMNA mutations had an average frequency of 2% each. Mutations in PLN, HCN4, TAZ, DTNA, TNNT2, and RBM20 were reported with a frequency of 1% each. We also summarized the results of eight studies investigating the non-compaction in altogether 5327 athletes, pregnant women, patients with sickle cell disease, as well as individuals from population-based cohorts, in which the presence of left ventricular hypertrabeculation ranged from 1.3 to 37%.ConclusionThe summarized data indicate that non-compaction may lead to unfavorable outcome in different cardiomyopathy entities. The presence of key features in a multimodal diagnostic approach could distinguish between benign morphological trait and manifest cardiomyopathy.