A family case of undifferentiated connective tissue dysplasia with multiple organ manifestations in siblings

DOI: 10.47026/2413-4864-2026-2-44-57

UDC: 616-056.7-053.8
BBC: 54.1

Nikolaeva O.V., Opalinskaya I.V., Babokin V.E., Vasilyeva N.P., Popova A.V., Ivanova E.V., Yamaltdinova Ya.I., Nikolaeva T.E.

A family case of undifferentiated connective tissue dysplasia with multiple organ manifestations in siblings

Keywords: ndifferentiated connective tissue dysplasia, siblings, family case, multiple organ manifestations, therapeutic tactics, follow-up, interdisciplinary approach, systemic connective tissue disease

Undifferentiated connective tissue dysplasia is a genetically determined systemic disease characterized by defects in fibrous structures and extracellular matrix, which leads to multiple organ manifestations. Diagnosis of undifferentiated connective tissue dysplasia is difficult due to lacking unified criteria and requires a comprehensive clinical and genealogical approach. The aim is to demonstrate the features of familial undifferentiated connective tissue dysplasia in siblings using a clinical example. The article presents examination and treatment results of siblings, a brother (33 years old) and a sister (32 years old) with undifferentiated connective tissue dysplasia hospitalized in the cardiac surgery department. General clinical, biochemical, instrumental studies (electrocardiography, echocardiography, transesophageal echocardiography, computed tomography of the aorta, coronary angiography, daily monitoring of electrocardiography and blood pressure), anamnestic and genealogical data analysis were performed. Both patients were found to have a family history of heart disease (the father had a congenital heart defect, suffered a myocardial infarction and acute cerebrovascular accident). The brother was diagnosed with bicuspid aortic valve, Valsalva sinus aneurysm (5.15 cm), myxomatous mitral valve degeneration with grade 2 prolapse, and atrial septal aneurysm. The sister had myxomatous mitral valve degeneration with grade 3 prolapse and grade 3 mitral regurgitation, aneurysm of the non-coronary Valsalva sinus (33-45 ´mm), dilation of the aorta at the level of the Valsalva sinuses (4.1 cm). Both patients successfully underwent cardiac surgery. In addition to cardiac pathology, patients were found to have multiple organ manifestations: scoliosis, flat feet, myopia, chronic pyelonephritis, biliary dyskinesia, biliary sludge and liver hemangioma. The presented observation confirms the hereditary nature of undifferentiated connective tissue dysplasia with a dominant lesion of the cardiovascular system and a wide range of extracardial phenotypic features. The necessity of an interdisciplinary approach (therapist, cardiologist, cardiac surgeon, geneticist), early diagnosis and timely surgical correction of heart defects is demonstrated. Long-term management of patients with familial forms of undifferentiated connective tissue dysplasia, including blood pressure control, antihypertensive and antiplatelet therapy, monitoring of aortic dimensions, treatment of chronic pyelonephritis and biliary tract disease, is essential for preventing complications and improving the quality of their life.

References

Sultanova O.E., Chernysheva E.N., Djaalali U. et al. Algoritm vedeniya patsientov s serdechno-sosudistymi zabolevaniyami na fone displazii soedinitel’noi tkani i soputstvuyushchimi depressivnymi rasstroistvami [Management algorithm for patients with cardiovascular diseases associated with connective tissue dysplasia and concomitant depressive disorders]. Sovremennaya nauka: aktual’nye problemy teorii i praktiki. Seriya: Estestvennye i tekhnicheskie nauki, 2026, no. 1, pp. 205–210. DOI: 10.37882/2223-2966.2026.01.31.
Valeeva D.I., Khusainova R.I., Khusainova L.N. et al. Analiz fenotipicheskikh proyavlenii displazii soedinitel’noi tkani u vzroslykh patsientov s nesovershennym osteogenezom i razrabotka algoritma diagnostiki [Analysis of phenotypic manifestations of connective tissue dysplasia in adult patients with osteogenesis imperfecta and development of a diagnostic algorithm]. Nauchno-prakticheskaya revmatologiya, 2025, vol. 63, no. 2, pp. 190–196. DOI: 10.47360/1995-4484-2025-190-196.
Dakuko A.N. Sostoyanie serdechno-sosudistoi sistemy u sportsmenov s priznakami displazii soedinitel’noi tkani na territorii Omskoi oblasti [Cardiovascular system status in athletes with signs of connective tissue dysplasia in the Omsk region]. Tverskoi meditsinskii zhurnal, 2022, no. 3, pp. 1–7.
Zemtsovsky E.V., Malev E.G., Reeva S.V. et al. Diagnostika nasledstvennykh narushenii soedinitel’noi tkani [Diagnosis of hereditary connective tissue disorders]. Translyatsionnaya meditsina, 2015, no. 5, pp. 73–82. DOI: 10.18705/2311-4495-2015-0-5-73-82.
Demidov R.O., Lapshina S.A., Yakupova S.P., Mukhina R.G. Displaziya soedinitel’noi tkani: sovremennye podkhody k klinike, diagnostike i lecheniyu [Connective tissue dysplasia: modern approaches to clinical practice, diagnosis and treatment]. Prakticheskaya meditsina, 2015, no. 4-2(89), pp. 37–40.
Eremeev A.G. Nervno-psikhicheskie narusheniya u patsientov s nedifferentsirovannoi displaziei soedinitel’noi tkani s pozitsii mental’noi meditsiny [Neuropsychiatric disorders in patients with undifferentiated connective tissue dysplasia from the perspective of mental medicine]. Dal’nevostochnyi meditsinskii zhurnal, 2024, no. 2, pp. 80–89. DOI: 10.35177/1994-5191-2024-2-13.
Kirkina N.Yu., Volnyagina A.S. Displaziya soedinitel’noi tkani. Sindrom Marfana [Connective tissue dysplasia. Marfan syndrome]. Klinicheskaya meditsina i farmakologiya, 2019, vol. 5, no. 1, pp. 15–19. DOI: 10.12737/article_5cd283bfeba661.33154611.
Sultanova O.E., Chernysheva E.N., Chivirgina T.V. et al. Korrektsiya obraza zhizni i psikhoemotsional’nogo statusa u patsientov s vysokim riskom vozniknoveniya ostrogo koronarnogo sindroma na fone sindroma nedifferentsirovannoi displazii soedinitel’noi tkani [Lifestyle modification and psychoemotional status correction in patients at high risk of acute coronary syndrome associated with undifferentiated connective tissue dysplasia]. Sovremennaya nauka: aktual’nye problemy teorii i praktiki. Ser. Estestvennye i tekhnicheskie nauki, 2025, no. 11, pp. 221–226. DOI: 10.37882/2223-2966.2025.11.33.
Miller O.N. Ekstrasistoliya u patsientov s sindromom displazii soedinitel’noi tkani [Extrasystole in patients with connective tissue dysplasia syndrome]. Klinicheskii razbor v obshchei meditsine, 2024, vol. 5, no. 2, pp. 15–20. DOI: 10.47407/kr2023.5.2.00383.
Nechaeva G.I., Yakovlev V.M., Druk I.V., Tikhonova O.V. Narusheniya ritma serdtsa pri nedifferentsirovannoi displazii soedinitel’noi tkani [Heart rhythm disturbances in undifferentiated connective tissue dysplasia]. Lechashchii vrach, 2008, no. 6, p. 43.
Azizova Z.K., Eremenkova P.E., Chernenkov Yu.V., Gumenyuk O.I. Porazhenie pishchevaritel’nogo trakta i displaziya soedinitel’noi tkani [Digestive tract involvement and connective tissue dysplasia]. Eksperimental’naya i klinicheskaya gastroenterologiya, 2025, no. 1(233), pp. 91–95. DOI: 10.31146/1682-8658-ecg-233-1-91-95.
Viktorova I.A., Ivanova D.S., Poltavtseva A.M. et al. Slozhnosti differentsial’noi diagnostiki displazii soedinitel’noi tkani v revmatologicheskoi praktike: klinicheskii razbor s vyyavleniem novoi mutatsii v gene kollagena I tipa [Difficulties in differential diagnosis of connective tissue dysplasias in rheumatological practice: a clinical case with identification of a new mutation in the type I collagen gene]. RMZh, 2025, no. 7, pp. 40–46. DOI: 10.32364/2225-2282-2025-7-8.
Smetanin M.Yu., Loginova E.N. Displasticheskoe serdtse. Deformatsiya miokarda levogo zheludochka pri nedifferentsirovannoi displazii soedinitel’noi tkani [Dysplastic heart. Left ventricular myocardial deformation in undifferentiated connective tissue dysplasia]. Prakticheskaya meditsina, 2022, vol. 20, no. 5, pp. 13–18. DOI: 10.32000/2072-1757-2022-5-13-18.
Styazhkina S.N., Knyazev A.D., Minakhanov I.I. Displaziya soedinitel’noi tkani v sovremennoi klinicheskoi praktike [Connective tissue dysplasia in modern clinical practice]. Sovremennye innovatsii, 2016, no. 5(7), pp. 57–64.
Tkachuk E.A., Seminskii I.Zh. Molekulyarno-geneticheskie faktory razvitiya displazii soedinitel’noi tkani: kollagenopatii [Molecular genetic factors of connective tissue dysplasia: collagenopathies]. Baikal’skii meditsinskii zhurnal, 2025, vol. 4, no. 3, pp. 46–62. DOI: 10.57256/2949-0715-2025-4-3-46-62.
Yudaev S.S., Khamroev S.Sh., Batrashov V.A., Dzhalaev F.Sh. Khirurgicheskoe lechenie patsienta s anevrizmoi ekstrakranial’nogo otdela vnutrennei sonnoi arterii [Surgical treatment of a patient with extracranial internal carotid artery aneurysm]. Vestnik Natsional’nogo mediko-khirurgicheskogo tsentra im. N.I. Pirogova, 2025, vol. 20, no. 3, pp. 152–154. DOI: 10.25881/20728255_2025_20_3_152.
Gornik H.L., Persu A., Adlam D. et al. First International Consensus on the diagnosis and management of fibromuscular dysplasia. Vascular Medicine, 2019, vol. 24, no. 2, pp. 164–189. DOI: 10.1177/1358863X18821816.
Kesav P., Manesh Raj D., John S. Cerebrovascular Fibromuscular Dysplasia – A Practical Review. Vascular Health and Risk Management, 2023, vol. 19, pp. 543–556. DOI: 10.2147/VHRM.S388257.
Kythreotou A., Weerakkody R.A., Koysombat K. et al. A Retrospective Cohort Study of Cerebrovascular Fibromuscular Dysplasia. Annals of Vascular Surgery, 2023, vol. 92, pp. 104–110. DOI: 10.1016/j.avsg.2022.12.092.
Martínez-Castilla V.M., Valenzuela-Espejo M., Díaz-Castillo Y. et al. Clinical spectrum and therapeutic strategies of fibromuscular dysplasia and segmental arterial mediolysis: A cohort study. Medicina Clínica (Barcelona), 2025, vol. 165, no. 4, p. 107119. DOI: 10.1016/j.medcli.2025.107119.
Olin J.W., Sealove B.A. Diagnosis, management, and future developments of fibromuscular dysplasia. Journal of Vascular Surgery, 2011, vol. 53, no. 3, pp. 826–836.e1. DOI: 10.1016/j.jvs.2010.10.066.
Roslik M., Zharikov Y., Vovkogon A. et al. Aortic aneurysm: Correlations with phenotypes associated with connective tissue dysplasia. Microvascular Research, 2025, vol. 157, 104754. DOI: 10.1016/j.mvr.2024.104754.
Shah K.P., Peruri A., Kanneganti M. et al. Fibromuscular dysplasia: A comprehensive review on evaluation and management and role for multidisciplinary comprehensive care and patient input model. Seminars in Vascular Surgery, 2021, vol. 34, no. 1, pp. 89–96. DOI: 10.1053/j.semvascsurg.2021.02.009.
Vinokurova K., Zakharova A., Zinovieva Y. et al. Cardiovascular Functioning Features in Individuals with Connective Tissue Dysplasia Engaged in Sports for the Disabled. Sports, 2026, vol. 14, no. 2, p. 69. DOI: 10.3390/sports14020069.
Wawak M., Tekieli Ł., Badacz R. et al. Clinical Characteristics and Outcomes of Aortic Arch Emergencies: Takayasu Disease, Fibromuscular Dysplasia, and Aortic Arch Pathologies: A Retrospective Study and Review of the Literature. Biomedicines, 2023, vol. 11, no. 8, 2207. DOI: 10.3390/biomedicines11082207.
Zheng Z., Yang C., Meng X. et al. Case Report: Endovascular thrombectomy for acute ischemic stroke with bilateral internal carotid artery fibromuscular dysplasia. Frontiers in Cardiovascular Medicine, 2025, vol. 12, 583321. DOI: 10.3389/fcvm.2025.1583321.

About authors

Nikolaeva Olga V.: Candidate of Medical Sciences, Associate Professor, Department of Hospital Therapy, Chuvash State University; Cardiologist, Republican Cardiology Dispensary, Russia, Cheboksary (nikolvl9@list.ru; ORCID: https://orcid.org/0009-0005-7001-5667)

Opalinskaya Irina V.: Candidate of Medical Sciences, Associate Professor, Department of Hospital Therapy, Chuvash State University, Russia, Cheboksary (opalinskaya_irina@mail.ru; ORCID: https://orcid.org/0000-0002-5760-269X)

Babokin Vadim E.: Doctor of Medical Sciences, Associate Professor, Head of the Department of Surgical Diseases, Chuvash State University; Chief Physician, Republican Cardiology Dispensary, Russia, Cheboksary (rkd@med.cap.ru; ORCID: https://orcid.org/0000-0002-2788-8762)

Vasilyeva Nina P.: Candidate of Medical Sciences, Associate Professor, Department of Hospital Therapy, Chuvash State University, Russia, Cheboksary (ninajur@yandex.ru; ORCID: https://orcid.org/0000-0002-0183-9436)

Popova Anna V.: Cardiologist, Republican Cardiology Dispensary, Russia, Cheboksary (vl_popov_76@mail.ru; )

Ivanova Elena V.: Clinical Resident, Department of Hospital Therapy, Chuvash State University, Russia, Cheboksary (alyonaivanova.ivanova2016@yandex.ru; ORCID: https://orcid.org/0000-0001-5091-4191)

Yamaltdinova Yazile I.: Clinical Resident, Department of Hospital Therapy, Chuvash State University, Russia, Cheboksary (yazile-01@mail.ru; ORCID: https://orcid.org/0009-0008-5151-5254)

Nikolaeva Tatiana E.: 4th year Student, Faculty of Medicine, Chuvash State University, Russia, Cheboksary (nikolte@list.ru; ORCID: https://orcid.org/0009-0004-6512-7245)

Article link

Nikolaeva O.V., Opalinskaya I.V., Babokin V.E., Vasilyeva N.P., Popova A.V., Ivanova E.V., Yamaltdinova Ya.I., Nikolaeva T.E. A family case of undifferentiated connective tissue dysplasia with multiple organ manifestations in siblings [Electronic resource] // Acta medica Eurasica. – 2026. – №2. P. 44-57. – URL: https://acta-medica-eurasica.ru/en/single/2026/2/5/. DOI: 10.47026/2413-4864-2026-2-44-57.

Single article

Nikolaeva O.V., Opalinskaya I.V., Babokin V.E., Vasilyeva N.P., Popova A.V., Ivanova E.V., Yamaltdinova Ya.I., Nikolaeva T.E.