A rare case of transthyretine amyloidosis with heart damage and widespread systemic manifestations


Cite item

Full Text

Abstract

The article describes the rare clinical case of transthyretine amyloidosis in young patient, manifested by heart rhythm disturbances and biventricular heart failure.

About the authors

S. A Boldueva

I.I.Mechnikov North-West State Medical University of the Ministry of Health of the Russian Federation

Email: svetlanaboldueva@mail.ru
д-р мед. наук, проф., зав. каф. факультетской терапии 191015, Russian Federation, Saint Petersburg, ul. Kirochnaia, d. 41

M. V Samokhvalova

I.I.Mechnikov North-West State Medical University of the Ministry of Health of the Russian Federation

канд. мед. наук, зав. кардиологическим отд-нием клиник 191015, Russian Federation, Saint Petersburg, ul. Kirochnaia, d. 41

A. D Khomulo

I.I.Mechnikov North-West State Medical University of the Ministry of Health of the Russian Federation

врач-кардиолог кардиологического отд-ния клиник 191015, Russian Federation, Saint Petersburg, ul. Kirochnaia, d. 41

V. V Zaitsev

V.A.Almazov National Medical Research Center of the Ministry of Health of the Russian Federation

врач-кардиолог главного клинического комплекса 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2

V. A Marinin

I.I.Mechnikov North-West State Medical University of the Ministry of Health of the Russian Federation

зав. аритмологическим отд-нием клиник 191015, Russian Federation, Saint Petersburg, ul. Kirochnaia, d. 41

S. A Vinnichuk

I.I.Mechnikov North-West State Medical University of the Ministry of Health of the Russian Federation

зав. патологоанатомическим отд-нием клиники, канд. мед. наук, доц. каф. патологической анатомии 191015, Russian Federation, Saint Petersburg, ul. Kirochnaia, d. 41

References

  1. Шилов Е.М. Нефрология. 2-е изд., испр. и доп. М.: ГЭОТАР-Медиа, 2010; с. 352-70
  2. Лутай М.И. и др. Амилоидоз сердца: трудный диагноз. Здоровая Украина. 2012; с. 34-7
  3. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol 2015; 66 (21): 2451-66.
  4. Болдуева С.А., Самохвалова М.В., Богданова Е.В., Соловьева Т.C. Первичный системный амилоидоз с поражением сердца и коронарных артерий. Кардиология. 2010; 6: 92-4
  5. Connors L.H, Prokaeva T, Lim A.et al. Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis. Am Heart J 2009; 158: 607-14.
  6. Ng B, Connors L.H, Davidoff R. et al. Senile systemic amyloidosis presenting with heart failure: a comparison with light chain-associated amyloidosis. Arch Intern Med 2005;165: 1425-9.
  7. Ruberg F.L, Maurer M.S, Judge D.P et al. Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS). Am Heart J 2012; 164: 222-8.e1.
  8. Sekijima Y, Uchiyama S, Tojo K. et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011;42: 1785-91.
  9. Ackermann E.J, Guo S, Booten S. et al. Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy. Amyloid 2012; 19 (Suppl. 1): 43-4.
  10. Maurer M.S, Grogan D.R, Judge D.P et al. Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail 2015; 8: 519-26.
  11. Obici L, Cortese A, Lozza A. et al. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid 2012; 19 (Suppl. 1): 34-6.
  12. Wu S.Y, Lopez-Berestein G, Calin G.A et al. RNAi therapies: drugging the undruggable. Sci Transl Med 2014; 6: 240ps7.
  13. Benson M.D. Liver transplantation and transthyretin amyloidosis. Muscle Nerve 2013; 47: 157-62.
  14. Carvalho A, Rocha A, Lobato L. Liver transplantation in transthyretin amyloidosis: issues and challenges. Liver Transpl 2015; 21: 282-92.
  15. Ericzon B.G, Wilczek H.E, Larsson M et al. Liver Transplantation for hereditary transthyretin amyloidosis: after 20 years still the best therapeutic alternative? Transplantation 2015;99: 1847-54.
  16. Maia L.F, Magalhes R, Freitas J et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86: 159-67.
  17. Oshima T, Kawahara S, Ueda M. et al. Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation. J Neurol Neurosurg Psychiatry 2014; 85: 740-6.

Copyright (c) 2017 Eco-Vector

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

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies