EN PL
ORIGINAL PAPER
Features of heritable disorders of connective tissue in children with acute rheumatic fever and rheumatic heart disease
 
More details
Hide details
1
Department of Children’s Diseases and Paediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine
 
 
Submission date: 2020-01-24
 
 
Final revision date: 2020-02-22
 
 
Acceptance date: 2020-02-23
 
 
Online publication date: 2020-02-28
 
 
Publication date: 2020-02-28
 
 
Reumatologia 2020;58(1):21-25
 
KEYWORDS
TOPICS
ABSTRACT
Objectives:
Heritable disorders of connective tissue (HDCT) are associated with morphological and functional disorders of different organs and systems. The aim of our study was to determine the clinical signs of heritable disorders of connective tissue and oxyproline levels in children with acute rheumatic fever (ARF) and rheumatic heart disease (RHD).

Material and methods:
A total of 155 patients aged 4 to 17 years participated in the study: 23 with ARF, 78 with RHD, and 54 healthy patients with a history of ARF. All patients underwent a standardized examination protocol, which consisted of a detailed medical history recorded by the physician, general and special laboratory tests, electrocardiogram, echocardiography, and Doppler echocardiography. Special attention was paid to the clinical signs of HDCT. The intensity of the metabolic processes in the connective tissue was evaluated by serum oxyproline levels.

Results:
The signs of HDCT were revealed in 121 (78.1%) of the patients with ARF and RHD. Among cardiovascular manifestations, we observed mitral valve prolapse most often – in 91 (58.7%) patients. Musculoskeletal anomalies were observed in 94 (60.7%) patients. Both groups of patients with ARF and RHD had elevated mean serum oxyproline levels.

Conclusions:
Children with acute rheumatic fever and rheumatic heart disease presented with a number of signs characteristic of heritable connective tissue disorders. The cardiovascular and musculoskeletal system changes are the most frequent among all features of HDCT. Elevated levels of serum oxyproline in patients with ARF and RHD confirm connective tissue disorders. Children with manifestations of HDCT are at the risk of ARF and RHD development.

REFERENCES (25)
1.
Kuivaniemi H, Tromp G, Prockop D. Mutation in collagen genes: causes of rare and some common diseases in humans. FASEB J 1991; 5: 2052-2060, DOI:10.1096/fasebj.5.7.2010058.
 
2.
Inamadar AC, Palit A. Cutaneous signs in heritable disorders of the connective tissue. Indian J Dermatol Venereol Leprol 2004; 70: 253-255.
 
3.
Bascom R, Schubart JR, Mills S, et al. Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization. Am J Med Genet A 2019; 179: 552-560, DOI:10.1002/ajmg.a.61054.
 
4.
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8-26, DOI: 10.1002/ajmg.c.31552.
 
5.
Blackburn PR, Xu Z, Tumelty KE, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet 2018; 102: 696-705, DOI: 10.1016/j.ajhg.2018.02.018.
 
6.
Komorovsky R, Boyarchuk O, Synytska V. Streptococcus gordonii-associated infective endocarditis in a girl with Barlow’s mitral valve disease. Cardiol Young 2019; 29: 1099-1100, DOI: 10.1017/S1047951119001434.
 
7.
Cunningham MW. Rheumatic fever, autoimmunity, and molecular mimicry: the streptococcal connection. Int Rev Immunol 2014; 33: 314-329, DOI: 10.3109/08830185.2014.917411.
 
8.
Boyarchuk O, Boytsanyuk S, Hariyan T. Acute rheumatic fever: clinical profile in children in western Ukraine. J Med Life 2017; 10: 122-126.
 
9.
Boyarchuk O, Hariyan T, Kovalchuk T. Clinical features of rheumatic heart disease in children and adults in Western Ukraine. Bangladesh Journal of Medical Science 2019; 18: 87-93, DOI: 10.3329/bjms.v18i1.39556.
 
10.
Guilherme L, Kalil J. Rheumatic fever: from innate to acquired immune response. Ann N Y Acad Sci 2007; 1107: 426-433, DOI: 10.1196/annals.1381.045.
 
11.
Martins TB, Hoffman JL, Augustine NH, et al. Comprehensive analysis of antibody responses to streptococcal and tissue antigens in patients with acute rheumatic fever. Int Immunol 2008; 20: 445-452, DOI: 10.1093/intimm/dxn004.
 
12.
Boyarchuk O, Komorovsky R, Kovalchuk T, Denefil O. Socio-demographic and medical predictors of rheumatic heart disease in a low risk population. Pediatr Pol 2018; 93: 325-330, DOI: 10.5114/polp.2018.77998.
 
13.
Bebeshko VG, Bruslova KM, Volodina TT, et al. Features of clinical symptoms and signs, hematological and biochemical parameters in children with joint hypermobility in a late period upon the Chornobyl NPP accident. Probl Radiac Med Radiobiol 2019; 24: 322-334, DOI: 10.33145/2304-8336-2019-24-322-334.
 
14.
Dajani AS, Ayoub E, Bierman FZ, et al. Guidelines for the diagnosis of rheumatic fever. Jones Criteria, 1992 update. Special Writing Group of the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association. JAMA 1992; 268: 2069-2073.
 
15.
Szczygielska I, Hernik E, Kołodziejczyk B, et al. Rheumatic fever – new diagnostic criteria. Reumatologia 2018; 56: 37-41, DOI: 10.5114/reum.2018.74748.
 
16.
Gewitz MH, Baltimore RS, Tani LY, et al. Revision of the Jones criteria for the diagnosis of acute rheumatic fever in the era of Doppler echocardiography: a scientific statement from the American Heart Association. Circulation 2015; 131: 1806-1818, DOI: 10.1161/CIR.0000000000000205.
 
17.
Reményi B, Wilson N, Steer A, et al. World Heart Federation criteria for echocardiographic diagnosis of rheumatic heart disease: an evidence-based guideline. Nat Rev Cardiol 2012; 9: 297-309, DOI: 10.1038/nrcardio.2012.7.
 
18.
Bouwien S-E, Klerks M, Kirby A. Beighton Score: A Valid Measure for Generalized Hypermobility in Children. J Pediatrics 2011; 158: 119-123.e4, DOI: 10.1016/j.jpeds.2010.07.021.
 
19.
Sharaev PN, Pishkov VN, Solov’eva NI, et al. Method of determination of bound and free hydroxyproline in blood serum. Laboratornoe delo 1987; 5: 330-332 [in Russian].
 
20.
Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA 1989; 262: 523-528.
 
21.
Oshlyanskaya OA. Markers of the destruction of connective tissue in congenital and acquired pathologies in children. Perinatologiya i pediatriya 2009; 4: 57-61 [in Ukrainian].
 
22.
Lawrie GM. Barlow disease: Simple and complex. J Thorac Cardiovasc Surg 2015; 150: 1078-1081, DOI: 10.1016/j.jtcvs.2015.09.030.
 
23.
Ferrer FS, Ferrer MLS, Murcia MDG, et al. Basic Study and Clinical Implications of Left Ventricular False Tendon. Is it associated with innocent murmur in children or heart disease? Rev Esp Cardiol 2015; 68: 700-705, DOI: 10.1016/j.rec.2014.09.021.
 
24.
Marushchak M, Krynytska I, Mikolenko A, et al. Chronic heart failure causes osteopathy or is osteopathy a factor in development of chronic heart failure? Asian J Pharm Clin Res 2018; 11: 111-115, DOI:10.22159/ajpcr.2018.v11i1.17532.
 
25.
Wang X, Wang W. Prevalence of Bicuspid Aortic Valve in Chinese Patients with Aortic Valve Disease: A Systematic Review. J Heart Valve Dis 2017; 26: 274-280.
 
Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
eISSN:2084-9834
ISSN:0034-6233
Journals System - logo
Scroll to top