Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences
Aim. To study and compare genotypic and phenotypic signs in patients with non-compaction cardiomyopathy (NCM) and dilated cardiomyopathy (DCM), to conduct a comparative analysis of clinical outcomes and 5-year cumulative survival of patients with NCM and DCM.Material and methods. The study included...
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| Language: | Russian |
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«FIRMA «SILICEA» LLC
2022-11-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/5191 |
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| author | T. G. Vaykhanskaya L. N. Sivitskaya O. D. Levdansky T. V. Kurushko N. G. Danilenko |
| author_facet | T. G. Vaykhanskaya L. N. Sivitskaya O. D. Levdansky T. V. Kurushko N. G. Danilenko |
| author_sort | T. G. Vaykhanskaya |
| collection | DOAJ |
| description | Aim. To study and compare genotypic and phenotypic signs in patients with non-compaction cardiomyopathy (NCM) and dilated cardiomyopathy (DCM), to conduct a comparative analysis of clinical outcomes and 5-year cumulative survival of patients with NCM and DCM.Material and methods. The study included 144 unrelated patients with cardiomyopathy: NCM (n=74) and DCM (n=70). Mean age was 39 [30; 49] years (men, 96 (66,7%); left ventricular ejection fraction (LVEF) was 30,5 [24; 46]%. A comprehensive clinical examination included electrocardiography, Holter monitoring, echocardiography, cardiac magnetic resonance imaging, coronary angiography, DNA diagnostics (NGS+Sanger), cascade screening, and cosegregation analysis. To assess clinical outcomes, the NCM group was divided into 2 subtypes according to baseline LV systolic function (NCM/DCM phenotype — 50 individuals with LVEF ≤49%; and isolated NCM — 24 patients with LVEF ≥50%). The following adverse events were assessed as the composite endpoint: cardiovascular death, heart transplantation (HT), sustained ventricular tachycardia, ventricular fibrillation, successful cardiopulmonary resuscitation, cerebral thromboembolism. The follow-up period was 62 months.Results. Among patients with LVEF ≤49% at a 5-year follow-up, 37 (74,0%) of 50 patients with the NCM/DCM phenotype and 41 (58,6%) of 70 patients with DCM achieved composite endpoint. Out of 24 patients with NCM with LVEF ≥50% (median LVEF, 56 [51; 61]%), 2 (8,3%) patients achieved composite endpoint (χ2=28,8; p=0,001). In the NCM/DCM group with LVEF ≤49%, a higher level of pathogenic genetic variants (64% vs 41,4%/DCM vs 29,2%/NCM; χ2=11,4; p=0,003), cerebral thromboembolism (χ2=11,8; p=0,003) and HT (χ2=10,6; p=0,005). The results of the 5-year survival analysis (Kaplan-Meier) showed a worse prognosis for NCM with LVEF ≤49% compared with DCM (log rang: χ2=11,5; p=0,001) and isolated NCM (log rang: χ2=17,02; p=0,0001). In the overall cohort (n=144), gene-positivity was also associated with worse prognosis (log rang: χ2=5,38; p=0,02).Conclusion. In the present study, patients with dilated subtype of NCM showed a worse prognosis compared with DCM and isolated NCM. Heart failure progression and cerebral thromboembolism were the most common complications in patients with NCM/DCM. |
| first_indexed | 2024-04-09T20:43:40Z |
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| id | doaj.art-c5f9e278c9d6446fafc1b7da151646ae |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2025-03-14T09:25:25Z |
| publishDate | 2022-11-01 |
| publisher | «FIRMA «SILICEA» LLC |
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| series | Российский кардиологический журнал |
| spelling | doaj.art-c5f9e278c9d6446fafc1b7da151646ae2025-03-02T11:42:59Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202022-11-01271010.15829/1560-4071-2022-51913660Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differencesT. G. Vaykhanskaya0L. N. Sivitskaya1O. D. Levdansky2T. V. Kurushko3N. G. Danilenko4Republican Scientific and Practical Center "Cardiology"Genomed Health Care CentreInstitute of Genetics and CytologyRepublican Scientific and Practical Center "Cardiology"Institute of Genetics and CytologyAim. To study and compare genotypic and phenotypic signs in patients with non-compaction cardiomyopathy (NCM) and dilated cardiomyopathy (DCM), to conduct a comparative analysis of clinical outcomes and 5-year cumulative survival of patients with NCM and DCM.Material and methods. The study included 144 unrelated patients with cardiomyopathy: NCM (n=74) and DCM (n=70). Mean age was 39 [30; 49] years (men, 96 (66,7%); left ventricular ejection fraction (LVEF) was 30,5 [24; 46]%. A comprehensive clinical examination included electrocardiography, Holter monitoring, echocardiography, cardiac magnetic resonance imaging, coronary angiography, DNA diagnostics (NGS+Sanger), cascade screening, and cosegregation analysis. To assess clinical outcomes, the NCM group was divided into 2 subtypes according to baseline LV systolic function (NCM/DCM phenotype — 50 individuals with LVEF ≤49%; and isolated NCM — 24 patients with LVEF ≥50%). The following adverse events were assessed as the composite endpoint: cardiovascular death, heart transplantation (HT), sustained ventricular tachycardia, ventricular fibrillation, successful cardiopulmonary resuscitation, cerebral thromboembolism. The follow-up period was 62 months.Results. Among patients with LVEF ≤49% at a 5-year follow-up, 37 (74,0%) of 50 patients with the NCM/DCM phenotype and 41 (58,6%) of 70 patients with DCM achieved composite endpoint. Out of 24 patients with NCM with LVEF ≥50% (median LVEF, 56 [51; 61]%), 2 (8,3%) patients achieved composite endpoint (χ2=28,8; p=0,001). In the NCM/DCM group with LVEF ≤49%, a higher level of pathogenic genetic variants (64% vs 41,4%/DCM vs 29,2%/NCM; χ2=11,4; p=0,003), cerebral thromboembolism (χ2=11,8; p=0,003) and HT (χ2=10,6; p=0,005). The results of the 5-year survival analysis (Kaplan-Meier) showed a worse prognosis for NCM with LVEF ≤49% compared with DCM (log rang: χ2=11,5; p=0,001) and isolated NCM (log rang: χ2=17,02; p=0,0001). In the overall cohort (n=144), gene-positivity was also associated with worse prognosis (log rang: χ2=5,38; p=0,02).Conclusion. In the present study, patients with dilated subtype of NCM showed a worse prognosis compared with DCM and isolated NCM. Heart failure progression and cerebral thromboembolism were the most common complications in patients with NCM/DCM.https://russjcardiol.elpub.ru/jour/article/view/5191non-compaction cardiomyopathydilated cardiomyopathyphenotypegenotypethromboembolic eventsprognosis |
| spellingShingle | T. G. Vaykhanskaya L. N. Sivitskaya O. D. Levdansky T. V. Kurushko N. G. Danilenko Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences Российский кардиологический журнал non-compaction cardiomyopathy dilated cardiomyopathy phenotype genotype thromboembolic events prognosis |
| title | Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences |
| title_full | Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences |
| title_fullStr | Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences |
| title_full_unstemmed | Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences |
| title_short | Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences |
| title_sort | non compaction and dilated cardiomyopathy genotypic phenotypic and prognostic differences |
| topic | non-compaction cardiomyopathy dilated cardiomyopathy phenotype genotype thromboembolic events prognosis |
| url | https://russjcardiol.elpub.ru/jour/article/view/5191 |
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