Late diagnosis of Marfan syndrome
AbstractThe diagnosis and treatment of hereditary connective tissue disorders, one of which Marfan syndrome, is one of the most difficult areas of medical science. The prognosis of life of these patients depends primarily on the degree of damage to the cardiovascular system.
Marfan syndrome is an autosomal dominant systemic underdevelopment of connective tissue in the embryonic and postnatal periods, caused by structural defects in collagen and accompanied by a predominant lesion of the musculoskeletal system, eyes and cardiovascular system. The frequency of Marfan syndrome occurrence in the population is low: according to various authors it is 1 case per 10 000-20 000 people, without racial and gender determinism. Without treatment the life expectancy of persons with Marfan syndrome is often limited to 30-40 years, and death in most cases occurs due to rupture of the aortic aneurysm or congestive heart failure.
Keywords:hereditary diseases of connective tissue, Marfan syndrome, aortic aneurysm
Funding. The study had no sponsor support.
Conflict of interests. The authors declare no conflict of interests.
For citation: Kovalskaya A.N., Piskunov M.V., Shchukin Yu.V. Late diagnosis of Marfan syndrome. Kardiologiya: novosti, mneniya, obuchenie [Cardiology: News, Opinions, Training]. 2020; 8 (3-4): 29-33. DOI: https://doi.org/10.33029/2309-1908-2020-8-3-4-29-33 (in Russian)
References
1. Zemtsovsky E.V., Malev E.G., Berezovskaya G.A., Parfenova N.N., Reeva S.V., Luneva E.B., at al. Hereditary disorders of connective tissue. Russian recommendations. Russian journal of cardiology. 2013; 1 (99): 5–32. (in Russian)
2. Martynov A.I., Nechaeva G.I., Akatova E.V., Vershinina M.V., Viktorova I.A., Goltsova L.G., et al. Clinical guidelines of the Russian scientific medical society of physicians for the diagnosis, treatment and rehabilitation of patients with connective tissue dysplasia (First revision). Medical Bulletin of the North Caucasus. 2018; 13 (1, 2). (in Russian)
3. Zemtsovsky E.V., Malev E.G., Luneva E.B. Hereditary connective tissue disorders and sudden cardiac death. Herald of Arrhythmology. 2011; 63: 61–4. (in Russian)
4. Kenneth L. Jones. Hereditary syndromes according to David Smith. Atlas reference. Translation from English. Moscow: Practice. 2011: 57–6. (in Russian)