NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES
To detect the reason of left ventricular hypertrophy (LVH) may be difficult in some cases especially in elite athletes. Object. To evaluate the efficiency of next generation sequencing (NGS) genetic test in differential diagnostics of pathological LVH in elite athletes. Material and methods. Analysi...
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| Format: | Article |
| Language: | English |
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Eco-vector
2017-12-01
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| Series: | Клиническая практика |
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| Online Access: | https://journals.eco-vector.com/clinpractice/article/viewFile/9007/7249 |
| _version_ | 1797725728791330816 |
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| author | O S Chumakova M Yu Isaeva M I Abushenko M V Vorobieva L E Guseinova R R Gasanova G I Speshilov A G Nikitin A V Averyanov D A Zateyshchikov |
| author_facet | O S Chumakova M Yu Isaeva M I Abushenko M V Vorobieva L E Guseinova R R Gasanova G I Speshilov A G Nikitin A V Averyanov D A Zateyshchikov |
| author_sort | O S Chumakova |
| collection | DOAJ |
| description | To detect the reason of left ventricular hypertrophy (LVH) may be difficult in some cases especially in elite athletes. Object. To evaluate the efficiency of next generation sequencing (NGS) genetic test in differential diagnostics of pathological LVH in elite athletes. Material and methods. Analysis of echocardiographic data from 791 elite athletes revealed 15 individuals with LVH 12 mm (1,9%). Based on the criteria of abnormality (asymmetric, severe and changes on electrocardiogram) 5 (0,6%) athletes were selected for genetic test. TruSight Cardio panel (“Illumina”) was used to identify variants of 174 genes with known associations to inherited cardiac conditions. Results. In 3 out of 5 athletes the pathogenic variants in MBPC3 and LMNA genes previously associated with HCM and other CMs were found. One athlete with negative genetic test result had severe untreated arterial hypertension as a possible cause for LVH. The second athlete didn’t have LVH in magnetic resonance imaging. Conclusions. In elite athletes, the asymmetric LVH should be considered as pathological finding which requires comprehensive clinical evaluation and NGS genetic test. |
| first_indexed | 2024-03-12T10:35:27Z |
| format | Article |
| id | doaj.art-371d33fd519a4121ab1cf6dd5d5a400c |
| institution | Directory Open Access Journal |
| issn | 2220-3095 2618-8627 |
| language | English |
| last_indexed | 2024-03-12T10:35:27Z |
| publishDate | 2017-12-01 |
| publisher | Eco-vector |
| record_format | Article |
| series | Клиническая практика |
| spelling | doaj.art-371d33fd519a4121ab1cf6dd5d5a400c2023-09-02T08:42:37ZengEco-vectorКлиническая практика2220-30952618-86272017-12-01843710.17816/clinpract843-78265NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETESO S ChumakovaM Yu IsaevaM I AbushenkoM V VorobievaL E GuseinovaR R GasanovaG I SpeshilovA G NikitinA V AveryanovD A ZateyshchikovTo detect the reason of left ventricular hypertrophy (LVH) may be difficult in some cases especially in elite athletes. Object. To evaluate the efficiency of next generation sequencing (NGS) genetic test in differential diagnostics of pathological LVH in elite athletes. Material and methods. Analysis of echocardiographic data from 791 elite athletes revealed 15 individuals with LVH 12 mm (1,9%). Based on the criteria of abnormality (asymmetric, severe and changes on electrocardiogram) 5 (0,6%) athletes were selected for genetic test. TruSight Cardio panel (“Illumina”) was used to identify variants of 174 genes with known associations to inherited cardiac conditions. Results. In 3 out of 5 athletes the pathogenic variants in MBPC3 and LMNA genes previously associated with HCM and other CMs were found. One athlete with negative genetic test result had severe untreated arterial hypertension as a possible cause for LVH. The second athlete didn’t have LVH in magnetic resonance imaging. Conclusions. In elite athletes, the asymmetric LVH should be considered as pathological finding which requires comprehensive clinical evaluation and NGS genetic test.https://journals.eco-vector.com/clinpractice/article/viewFile/9007/7249athletehypertrophyngshcm |
| spellingShingle | O S Chumakova M Yu Isaeva M I Abushenko M V Vorobieva L E Guseinova R R Gasanova G I Speshilov A G Nikitin A V Averyanov D A Zateyshchikov NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES Клиническая практика athlete hypertrophy ngs hcm |
| title | NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES |
| title_full | NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES |
| title_fullStr | NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES |
| title_full_unstemmed | NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES |
| title_short | NEXT GENERATION SEQUENCING HELPS IN DIFFERENTIAL DIAGNOSIS OF PATHOLOGICAL LEFT VENTRICULAR HYPERTROPHY IN ELITE ATHLETES |
| title_sort | next generation sequencing helps in differential diagnosis of pathological left ventricular hypertrophy in elite athletes |
| topic | athlete hypertrophy ngs hcm |
| url | https://journals.eco-vector.com/clinpractice/article/viewFile/9007/7249 |
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