Гипертрофическая кардиомиопатия в структуре врожденных полиорганных синдромов у пациентов раннего детского возраста
Аннотация
Ключевые слова: дети, гипертрофическая кардиомиопатия, синдром LEOPARD, синдром Нунан.
Об авторах
М.В. ТуральчукГ.А. Новик
А.Я. Гудкова
Список литературы
1. Maron В.J., McKenna W.J. et al. ACC/ESC Expert Consensus Document on Hypertrophic Cardiomyopathy. JACC. 2003; 42: 1–27.
2. Keren А., Syrris Р., McKennaW.J. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat. Clin. Pract. Cardiovasc. Med. 2008; 5 (3): 158–168.
3. Colan S.D., Lipshultz S.E., Lowe A.M. et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children findings from the pediatric cardiomyopathy registry. Circulation. 2007; 115: 773–781.
4. Hoffmann B., Mayatepek E. Fabry disease-often seen, rarely diagnosed. Dtsch. Arztebl. Int. 2009; 106 (26): 440–447.
5. Veinot J.P. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002; 106 (15): 1407–1411.
6. Chimenti C., Pieroni M. et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004; 110 (9): 1047–1053.
7. Maron В.J., Seidman C.E., Ackerman M.J. et al. How should hypertrophic cardiomyopathy be classified? What's in a name? Dilemmas in nomenclature characterizing hypertrophic cardiomyopathy and left ventricular hypertrophy. Circ. Cardiovasc. Genet. 2009; 2 (1): 81–85.
8. Wilkinson J.D., Sleeper L.A., Alvarez J.A. еt al. The Pediatric Cardiomyopathy Registry: 1995–2007. Prog. Pediatr. Cardiol. 2008; 25 (1): 31–36.
9. Gelb B.D., Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum. Mol. Genet. 2006; 15 (2): 220–226.
10. Digilio M.C., Conti E., Sarkozy A. et al. Grouping of multiple lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am. J. Hum. Genet. 2002; 71 (2): 389–394.
11. Sarkozy A., Conti E., Digilio M.C. et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J. Med. Genet. 2004; 41 (5): e68.
12. Sarkozy A., Digilio M.C., Dallapiccola B. Leopard syndrome. Orphanet J. Rare Dis. 2008; 3: 1–8.
13. Allanson J.E. Noonan syndrome. Am. J. Med. Genet. C. Semin. Med. Genet. 2007; 145: 274–279.
14. Gibson W., Trevenen C., Giuffre M., Leung A.K. Noonan syndrome in a premature infant with hypertrophic cardiomyopathy and death in infancy. J. Natl. Med. Assoc. 2005; 97 (6): 805–807.
15. Cerrato F., Pacileo G., Limongelli G. et al. A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromes. Cardiol. Young. 2008; 18 (6): 575–580.
16. Formigari R., Michielon G., Digilio M.C. et al. Genetic syndromes and congenital heart defects: how is surgical management affected? Eur. J. Cardiothorac. Surg. 2009; 35 (4): 606–614.
17. Arad M., Maron B.J., Gorham J.M. et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N. Engl. J. Med. 2005; 352 (4): 362–372.
Для цитирования:
Туральчук М., Новик Г., Гудкова А. Гипертрофическая кардиомиопатия в структуре врожденных полиорганных синдромов у пациентов раннего детского возраста. Вопросы современной педиатрии. 2011;10(3):166–169.
For citation:
Tural'chuk M., Novik G., Gudkova A. HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS. Current Pediatrics. 2011;10(3):166–169.
Послать статью по эл. почте 