Heritable Disorders and Dysplasia of Connective Tissue: Synonyms or Conceptually Irreconcilable Concepts?

Abstract

An interest in studying the problem of heritable disorders (dysplasia) of connective tissue in Russia has remained at a high level since the early 90s of the 20th century. During this time, a large amount of clinical material has been accumulated. Several diagnostic algorithms have been developed on its basis. The aim of this review is to take a critical look at the proposed identification criteria, compare them, identify their limitations, assess compliance with the needs and expectations of practitioners, as well as to make a comparison with works on this topic in the world literature. We discuss the similarities and fundamental differences of the main concepts - the recommendations of the Russian Society of Cardiology (2009, 2013) and the Russian Scientific Medical Society of Therapists (2016, 2018, 2019). We suppose that the attention of practicing physicians should be focused on prognostically significant lesions of internal organs, rather than on external stigmas of dysembryogenesis.

Keywords

• heritable disorders of connective tissue
• dysplasia of connective tissue
• phenotypes of connective tissue dysplasia
• marfanoid habitus
• marfan syndrome
• diagnostic criteria