Inherited disorders (dysplasia) of the connective tissue. Which of the two existing national recommendations is preferable?

Cover Page

Abstract


The article describes the current algorithms of diagnostics of inherited (dysplasia) of connective tissue (DCD) that are currently in force in the territory of the Russian Federation, compared in terms of identification of morpho-functional cha racteristics of heart. Describes the shortcomings of these algorithms do not take into account the gender features of the prevalence of signs. According to the algorithm, developed by experts of Russian Society of Cardiology (RSC), highlight dysplastic phenotypes, most of which is now a marfanoid habitus (MH). Revision of the diagnostic algorithm, which takes into account the specificity of individual MH bone signs and their gender dimensions. It is proved that for young people with MH is characterized by increased frequency of cardiac anomalias (atrial Septal aneurysm, the functional asymmetry of the aortic valve), identified structural features heart-relative myocardial hypertrophy of the left ventricle, increasing the diameter of the aorta. The features of heart rate in patients with MH – relative tachycardia during daylight hours, reducing the symptoms of sinus arrhythmia, decreased heart rate variability power spectral. It is shown that for boys with MH is characterized by lengthening the electrical systole (QT interval), 21.4% of cases greater than 480 Ms. At the same time, the DCD diagnostic algorithm that is described in the recommendations of the Russian Scientific Society of therapists (RSSIM leads to over diagnosis this condition in young age does not allow to identify the structural and functional features of the heart and could not be recommended for practical use.


Eduard V. Zemtsovsky

Author for correspondence.
zemtsovsky@mail.ru
St Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation, Saint Petersburg

MD, PhD, Dr Med Sci, Professor, Head, Department of Propaedeutics Internal Medicine with a Course of Therapeutic Care for Patients

Evgeniy V. Timofeev

darrieux@mail.ru
St Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation
Russian Federation, Saint Petersburg

MD, PhD, Associate Professor, Department of Propaedeutics Internal Medicine with a Course of Therapeutic Care for Patients

Eduard G. Malev

edwardmalev@hotmail.com
Federal Almazov North-West Medical Research Center
Russian Federation, Saint Petersburg

MD, PhD, Leading Scientist, Department of Connective Tissue Disorders

  • Давтян К.У. Диспластические синдромы и фенотипы как возможный предиктор развития фибрилляции предсердий у больных с ишемической болезнью сердца: Автореф. дис. … канд. мед. наук. — СПб., 2009. — 19 с. [Davtjan KU. Dysplastic syndromes and phenotypes as a possible predictor of atrial fibrillation in patients with coronary heart disease. [dissertation] Saint Petersburg; 2009. 19 p. (In Russ.)]
  • Земцовский Э.В., Малев Э.Г., Реева С.В., и др. Диагностика наследственных нарушений соединительной ткани. Итоги и перспективы // Российский кардио логический журнал. – 2013. – № 102. – С. 38–44. [Zemcovskij YeV, Malev YeG, Reeva SV, et al. Diagnosis of hereditary disorders of connective tissue. Results and prospects. Rossijskij kardiologicheskij zhurnal. 2013;(102):38-44. (In Russ.)]
  • Лунева Е.Б., Малев Э.Г., Коршунова А.Л., и др. Проявления кардиомиопатии у пациентов с синдромом Марфана и марфаноидной внешностью // Пе диатр. – 2016. – Т. 4. – № 7. – С. 96–101. [Luneva EB, Malev YeG, Korshunova AL, et al. Manifestations of a cardiomyopathy at patients with Marfan's syndrome and marfanoid habitus. Pediatr. 2016;4(7):96-101. (In Russ.)]. doi: 10.17816/PED7496-101.
  • Наследственные нарушения соединительной ткани в кардиологии. Диагностика и лечение. Российские рекомендации (первый пересмотр) // Российский кардиологический журнал. – 2013. – № 99. – Приложение 1. – С. 1–32. [Official Russian guidelines for inherited connective tissue diseases. Rossijskij kardiologicheskij zhurnal. 2013;99(Suppl.1):1-32. (In Russ.)]
  • Национальные рекомендации российского научного медицинского общества терапевтов по диагностике, лечению и реабилитации пациентов с дисплазиями cоединительной ткани // Медицинский вестник Северного Кавказа. – 2016. – Т. 11. – № 1. – С. 2–76. [National recommendations of the russian scientific society of internal medicine for diagnostics, treatment and rehabilitation of patients with connective tissue dysplasia. Medicinskij vestnik Severnogo Kavkaza. 2016;11(1):2-76. (In Russ.)]
  • Реева С.В., Малев Э.Г., Панкова И.А., и др. Вегетативная дисфункция у лиц молодого возраста с пролапсом митрального клапана и марфаноидной внешностью // Российский кардиологический журнал. – 2013. – № 99. – С. 23–27. [Reeva SV, Malev YeG, Pankova IA, et al. Vegetative dysfunction and violations of repolarization on the ECG of rest and loading at persons of young age with marfanoid habitus and a prolapse of the mitral valve. Rossijskij kardiologicheskij zhurnal. 2013;(99):23-27. (In Russ.)]
  • Реева С.В., Малев Э.Г., Тимофеев Е.В., и др. Вегетативная дисфункция и нарушения реполяризации на ЭКГ покоя и нагрузки у лиц молодого возраста с марфаноидной внешностью и пролапсом митрального клапана // Российский кардиологический журнал. – 2015. – № 123. – С. 84–88. [Reeva SV, Malev YeG, Timofeev EV, et al. Vegetative dysfunction and violations of repolarization on the ECG of rest and loading at persons of young age with marfanoid habitus and a prolapse of the mitral valve. Rossijskij kardiologicheskij zhurnal. 2015;(123):84-88. (In Russ.)]
  • Сметанин М.Ю., Чернышова Т.Е., Пименов Л.Т., Кононова Н.Ю. Диспластическое сердце: возможно ли прогнозировать электрическую нестабильность миокарда? // Медицинский вестник Северного Кавказа. – 2016. – Т. 2–2. – № 11. – С. 353–355. [Smetanin MYu, Chernyshova TE, Pimenov LT, Kononova NYu. Dysplastic heart: Is it possible to predict electrical instability of the myocardium? Medicinskij vestnik Severnogo Kavkaza. 2016;2-2(11):353-5. (In Russ.)]
  • Тимофеев Е.В. Распространенность диспластических синдромов и фенотипов и их взаимосвязь с особенностями сердечного ритма у лиц молодого возраста: Автореф. дис. … канд. мед. наук. — СПб., 2011. – 22 с. [Timofeev EV. Prevalence of the displastic syndromes and phenotypes and their interrelation with features of a warm rhythm at persons of young age. [dissertation] Saint Petersburg; 2011. 22 p. (In Russ.)]
  • Тимофеев Е.В., Зарипов Б.И., Лобанов М.Ю., и др. Долихостеномелия как критерий диагностики марфаноидной внешности // Трансляционная медицина. – 2013. – № 21. – С. 62–69. [Timofeev EV, Zaripov BI, Lobanov MYu, et al. Dolichostenomelia as an criterion of the marfanoid habitus. Transljacionnaja medicina. 2013;(21):62-69. (In Russ.)]
  • Хасанова С.И. Роль соединительнотканной дисплазии в формировании склеро-дегенеративных поражений аортального клапана сердца: Автореф. дис. … канд. мед. наук. — СПб., 2010. — 21 с. [Hasanova SI. Role of connective tissue dysplasia in the formation Sclerotiniose degenerative lesions of the aortic heart valve. [dissertation] Saint Petersburg; 2010. 21 p. (In Russ.)]
  • Beighton P, De Paepe A, Danks D, et al. Ehlers-Danlos syndromes: Revised nosology. Villefranche. 1997. J Med Genet. 1998;77(1):31-7.
  • De Paepe A, Devereux RB, Deitz HC, et al. Revised diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics. 1996;62:417-26. doi: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R.
  • Grahame R, Bird HA, Child A. The revised (Brighton, 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). Journal of Rheumatology. 2000;27(7):1777-9
  • Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476-85. doi: 10.1136/jmg.2009.072785.

Views

Abstract - 30

PDF (Russian) - 34


Copyright (c) 2017 Zemtsovsky E.V., Timofeev E.V., Malev E.G.

Creative Commons License
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.