Clinical and diagnostic difficulties in management of patients with laminopathies
Mutations in the LMNA gene cause developing of several phenotypes, both with isolated involvement of cardiac, muscle, adipose and bone tissues, and with their combination. The dominance of cardiovascular signs in the clinical performance and false clarity in nosology definition can cause underestima...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
«FIRMA «SILICEA» LLC
2019-11-01
|
| Series: | Российский кардиологический журнал |
| Subjects: | |
| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/3087 |
| _version_ | 1797856740380770304 |
|---|---|
| author | O. V. Melnik A. B. Malashicheva Yu. V. Fomicheva A. A. Khudyakov A. Ya. Gudkova D. I. Rudenko M. A. Simonenko Е. N. Mikhailov D. S. Lebedev E. S. Vasichkina T. M. Pervunina A. A. Kostareva |
| author_facet | O. V. Melnik A. B. Malashicheva Yu. V. Fomicheva A. A. Khudyakov A. Ya. Gudkova D. I. Rudenko M. A. Simonenko Е. N. Mikhailov D. S. Lebedev E. S. Vasichkina T. M. Pervunina A. A. Kostareva |
| author_sort | O. V. Melnik |
| collection | DOAJ |
| description | Mutations in the LMNA gene cause developing of several phenotypes, both with isolated involvement of cardiac, muscle, adipose and bone tissues, and with their combination. The dominance of cardiovascular signs in the clinical performance and false clarity in nosology definition can cause underestimation of subclinical markers of other systems partaking. It leads to an incorrect interpretation of the true disease etiology, failure in genetic diagnostics, and untimely determination of the correct management and prognosis. The article presents clinical cases that demonstrate both the most typical manifestations of laminopathy and rare combinations of symptoms, which represent a certain diagnostic difficulty. |
| first_indexed | 2024-04-09T20:45:26Z |
| format | Article |
| id | doaj.art-36befde99f054c6d88dfee7d1ca3a85b |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2024-04-09T20:45:26Z |
| publishDate | 2019-11-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj.art-36befde99f054c6d88dfee7d1ca3a85b2023-03-29T21:23:34Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202019-11-01010727710.15829/1560-4071-2019-10-72-772560Clinical and diagnostic difficulties in management of patients with laminopathiesO. V. Melnik0A. B. Malashicheva1Yu. V. Fomicheva2A. A. Khudyakov3A. Ya. Gudkova4D. I. Rudenko5M. A. Simonenko6Е. N. Mikhailov7D. S. Lebedev8E. S. Vasichkina9T. M. Pervunina10A. A. Kostareva11Almazov National Medical Research CenterAlmazov National Medical Research Center; Pavlov First Saint Petersburg State Medical UniversityAlmazov National Medical Research CenterAlmazov National Medical Research Center; Pavlov First Saint Petersburg State Medical UniversitySaint Petersburg State UniversitySaint Petersburg State UniversityAlmazov National Medical Research CenterAlmazov National Medical Research CenterAlmazov National Medical Research CenterAlmazov National Medical Research CenterAlmazov National Medical Research CenterAlmazov National Medical Research CenterMutations in the LMNA gene cause developing of several phenotypes, both with isolated involvement of cardiac, muscle, adipose and bone tissues, and with their combination. The dominance of cardiovascular signs in the clinical performance and false clarity in nosology definition can cause underestimation of subclinical markers of other systems partaking. It leads to an incorrect interpretation of the true disease etiology, failure in genetic diagnostics, and untimely determination of the correct management and prognosis. The article presents clinical cases that demonstrate both the most typical manifestations of laminopathy and rare combinations of symptoms, which represent a certain diagnostic difficulty.https://russjcardiol.elpub.ru/jour/article/view/3087lamin a/ccardiomyopathyarrhythmianeuropathyheart failuremutations |
| spellingShingle | O. V. Melnik A. B. Malashicheva Yu. V. Fomicheva A. A. Khudyakov A. Ya. Gudkova D. I. Rudenko M. A. Simonenko Е. N. Mikhailov D. S. Lebedev E. S. Vasichkina T. M. Pervunina A. A. Kostareva Clinical and diagnostic difficulties in management of patients with laminopathies Российский кардиологический журнал lamin a/c cardiomyopathy arrhythmia neuropathy heart failure mutations |
| title | Clinical and diagnostic difficulties in management of patients with laminopathies |
| title_full | Clinical and diagnostic difficulties in management of patients with laminopathies |
| title_fullStr | Clinical and diagnostic difficulties in management of patients with laminopathies |
| title_full_unstemmed | Clinical and diagnostic difficulties in management of patients with laminopathies |
| title_short | Clinical and diagnostic difficulties in management of patients with laminopathies |
| title_sort | clinical and diagnostic difficulties in management of patients with laminopathies |
| topic | lamin a/c cardiomyopathy arrhythmia neuropathy heart failure mutations |
| url | https://russjcardiol.elpub.ru/jour/article/view/3087 |
| work_keys_str_mv | AT ovmelnik clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT abmalashicheva clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT yuvfomicheva clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT aakhudyakov clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT ayagudkova clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT dirudenko clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT masimonenko clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT enmikhailov clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT dslebedev clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT esvasichkina clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT tmpervunina clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies AT aakostareva clinicalanddiagnosticdifficultiesinmanagementofpatientswithlaminopathies |