دورية أكاديمية
Non-compaction cardiomyopathy: genetic and clinical features, 5-years outcomes
| العنوان: | Non-compaction cardiomyopathy: genetic and clinical features, 5-years outcomes |
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| المؤلفون: | Vaikhanskaya, T, Sivitskaya, L.N, Liaudanski, A.D, Danilenko, N.G, Davydenko, O.G |
| المصدر: | European Heart Journal ; volume 41, issue Supplement_2 ; ISSN 0195-668X 1522-9645 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Cardiology and Cardiovascular Medicine |
| الوصف: | Presence of morphological sign as a left ventricular non-compaction (LVNC) only, without supporting clinical criteria, does not determine diagnosis of non-compaction cardiomyopathy (NCCM). Objective To study of the spectrum of NCCM-associated genes, analysis of phenotype-genotype correlations and predictors of life-threatening ventricular tachyarrhythmia (ltVTA), myocardial fibrosis, and adverse outcome. Methods Of 93 pts with identified (Echo/MRI) morphological criteria for LVNC (follow-up median 5,1 years), 60 unrelated pts were included in the study (aged 38.5±13.8 years; 33/55% male; LVEF 42.1±12.9%) with clinical confirmed NCCM (presence any one obligate criteria): family history, neuromuscular disorder, abnormal 12-lead ECG, arrhythmia, HF or thromboembolism (Figure). Genetic testing by NGS (174 genes) was performed; all variants considered as pathogenic (PV) and likely pathogenic (LPV) were confirmed by a Sanger sequencing. Baseline and follow-up data (ECG, HM, Echo, MRI, device interrogation) were collected. Combined adverse outcomes (HF death; SCD; LVAD; HTx; and ltVTA: VT/VF, successful resuscitation, ICD shock) were accepted as composite endpoint. Results PV and LPV were detected in 33 (55%) pts. The most common variants were identified in sarcomere genes – TTNtv, MYBPC3, and MYH7 (47.4%); ion channel genes – 18.2%; digenic mutations were found in 21.6% pts. Gene positivity was associated with systolic dysfunction (LVEF≤49%); the highest risk of low LVEF revealed for digenic carriers (OR 38; 95% CI 4.74–305; p=0.0001). According to CATREG analysis, predictive model was built (R=0,80; R2=0,65; F=10,1; p=0,0001); the presence of disease-causing PV/LPV (β=0.46; F=15.2; p=0,0001) along with low LVEF (β=−0.28; F= 5.96; p=0,018), fibrosis (β=0.21; F= 3.05; p=0,037), wide QRS (β=0.22; F= 4.11; p=0,011) were identified as independent predictors of adverse outcomes. As a result of ROC analysis, independent predictors of ltVTA were determined: fibrosis (nLGE≥2: AUC 0.824; 95% CI: 0.716–0.931; p=0.0001; ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/ehjci/ehaa946.2071 |
| الإتاحة: | https://doi.org/10.1093/ehjci/ehaa946.2071Test https://academic.oup.com/eurheartj/article-pdf/41/Supplement_2/ehaa946.2071/42431686/ehaa946.2071.pdfTest |
| حقوق: | https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_modelTest |
| رقم الانضمام: | edsbas.A36DCE2A |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/ehjci/ehaa946.2071 |
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