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J.J. Bakhronov, S.Z. Ubaydullayev, N.T. Suyunov, Sh.B. Kuchkorov, Sh.F. Kholmurodov, R.N. Muhiddinzoda
MARFAN SYNDROME, CLINICAL EXAMPLE
Marfan syndrome occurs in 1 in 3,000 to 5,000 people, but there are several other inherited connective tissue disorders that have similar clinical presentations and similar dangerous complications, making the problems associated with Marfan syndrome very relevant. The article presents a literature review of modern criteria for the diagnosis of Marfan's disease and a clinical example of this disease. It also shows the symptom complex of the disease in the example.
Key words. Fibrillin-1, arachnodactyly, dolichostenomelia, hyperkyphosis, keeled deformity, aortic root dilatation, dissecting aortic aneurysm, systolic murmur.
Marfan syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the gene encoding fibrillin-1 glycoprotein synthesis. The disease is characterized by pathological changes in the heart and blood vessels, the musculoskeletal system and the eyes.
clinical manifestation. The phenotype of patients is characterized by a certain extent: from mild, "mild" forms of connective tissue dysplasia, which are also found in the general population, to cases with life-threatening systemic disorders.
Musculoskeletal system: arachnodactyly, dolichostenomelia, spinal deformities (scoliosis, lordosis, hyperkyphosis), deformity of the anterior chest wall (depressed chest, "chicken chest"), joint hypermobility, flat foot, high gothic palate, underdevelopment of the acetabulum, congenital contractures elbows and fingers, muscular hypotension.
Cardiovascular system: mitral valve prolapse occurs in 80% of cases; over time, the valve leaflets thicken, becoming histologically myxomatous; dilatation of the aortic root begins in the sinus of Valsalva and progresses with age (slower progression in women) and may eventually lead to dissecting aortic aneurysm.
Organs of vision: half of the patients are diagnosed with subluxation of the lens; in persons with severe myopia, the risk of retinal detachment is increased.
© J.J. Bakhronov, S.Z. Ubaydullayev, N.T. Suyunov, Sh.B. Kuchkorov, Sh.F. Kholmurodov, R.N. Muhiddinzoda, 2023.
Diagnostics. Within the framework of the revised Ghent criteria (2010), the requirements for the diagnosis of Marfan syndrome differ depending on the data of the hereditary history. If the family or hereditary anamnesis is not burdened, the syndrome is established in the following cases: in the presence of confirmed aortic root dilatation and lens ectopia; in the presence of expansion of the aortic root and a confirmed mutation of the FBN1 gene; in the presence of ectopia of the lens without involvement of the aortic root with confirmation of a mutation in the FBN1 gene; with a combination of aortic expansion and signs of systemic involvement of connective tissue.
Case from practice.
Patient: Rakhmonova P.
Age: 6 years old
Height: 138 cm
Weight: 27 kg
Complaints: According to the mother, edema of the red-hot joint (no edema was detected during examination, but hyperelasticity and hypermobility of the joint were revealed), fatigue, loss of appetite, weakness, shortness of breath during physical exertion, peripheral cyanosis during physical exertion.
Anamnesis: According to the mother, 3-child in the family. Birth height 45 cm, birth weight 3200 g. In the family, the older brother and mother suffer from Marfan's syndrome. The maternal grandfather also suffered from Morfan's syndrome and died of cirrhosis of the liver at the age of 43. The first signs of Marfan's syndrome in the girl appeared after 3 years. At first, the mother noticed in the child the elasticity of the joints, then a rapid increase in growth and deformation of the chest.
Examination of the patient and physical methods of research. Moderate condition. The skin is pale, subcutaneous adipose tissue is poorly developed. Skin hyperelasticity was revealed. During auscultation of the heart, a rough systolic murmur is heard at two auscultation points (1st and 5th points), an accent of the II tone over the pulmonary artery, a diastolic click at the apex of the heart.
Clinical manifestation of the disease.
Arachnodactyly
Deformity of the small joints of the foot
Keeled deformity of the chest
Spinal deformity in the form of kyphosis
Hypermobility (looseness) of the knee joint
Skin hyperelasticity
Treatment. Treatment is mainly symptomatic, aimed at alleviating certain manifestations of the disease. Patients need to undergo an extended annual medical examination with the mandatory participation of an ophthalmologist, cardiologist and orthopedist. Most clinical studies support the prophylactic use of beta-blockers from an early age to prevent dissecting aortic aneurysms. In the case of severe dilatation of the aortic root, its surgical correction is performed. The indication for surgery in adult patients is to achieve a maximum aortic root diameter of 50 mm.
Conclusion. Marfan's disease is one of those diseases that is complicated by various diseases of the cardiovascular system, musculoskeletal system and organs of vision. To prevent these complications, early diagnosis and timely correction of the symptoms of the disease are required.
Bibliography:
1.Rao SS, Venuti KD, Dietz HC, Sponseller PD. Quantifying Health Status and Function in Marfan Syndrome. J Surg Orthop Adv. 2016 Spring;25(1):34-40.
2.Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85.
3.Shirley ED, Sponseller PD. Marfan syndrome. J Am Acad Orthop Surg. 2009 Sep;17(9):572-81.
4.Dean J.C.S. Management of Marfan syndrome // Heart. - 2002. - Vol. 88. - P. 97-103.
5.De Paepe A., Devereux R.B., Dietz H.C. et al. Revised diagnostic criteria for the Marfan syndrome // Am. J. Med. Genet. - 1996. - Vol. 62. - P. 417-26.
6.Groenink M., Lohuis T.A.J., Tijssen J.G.P., et al. Survival and complication free survival in Marfan's syndrome: implications of current guidelines // Heart. - 1999. - Vol. 82. - P. 499- 504.
7.Uyeda T., Takahashi T., Eto S. et al. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. J Hum Genet 2004; 49: 8: 404—407.
8.Gupta P., Wallis D., Chin T. et al. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet 2004: 41: 5: 56.
9.Nataatmdjan M., West M., West J. et al. Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in Marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm. Circulation 2003; 108: 11329—11334.
10.Simoes F.J., Pereira I., Carvalcho J. et al. Therapeutic effect of a magnesium salt in patients suffering from mitral valvular prolapse and latent tetany. Magnesium 1995; 2: 283—290.
BAKHRONOV JAKHONGIR JASUROVICH - student of the 521st group of the pediatric faculty of the Samarkand State Medical University, Samarkand, Uzbekistan.
UBAYDULLAEVSARDOR ZAFAROVICH - student of the 507th group of the pediatric faculty of the Samarkand State Medical University, Samarkand, Uzbekistan.
SUYUNOVNAVRUZBEK TURABEK UGLI - student of the 506th group of the pediatric faculty of the Samarkand State Medical University, Samarkand, Uzbekistan.
KUCHKOROV SHAKHZODBEK BAHODIROVICH - student of the 521st group of the pediatric faculty of the Samarkand State Medical University, Samarkand, Uzbekistan.
KHOLMURODOV SHAHRAM FURKATOVICH - student of the 521st group of the pediatric faculty of the Samarkand State Medical University, Samarkand, Uzbekistan.
MUHIDDINZODA RUKHSHONABONUNUMONKIZI - student of the 221st group of the medical faculty of the Samarkand State Medical University, Samarkand, Uzbekistan.
