Abstract
Left ventricular non-compaction is a heterogeneous heart disease with various phenotypic and clinical manifestations. The article presents the results of clinical, instrumental and molecular genetic investigations of a family with diagnosed left ventricular non-compaction (LVNC) with different clinical and phenotypic manifestations. As a result of a molecular genetic testing, all family members with the LVNC phenotype were found to have a likely pathogenic variant in the FLNC gene. Variants in this gene are associated with a number of cardiomyopathies: dilated, hypertrophic, and restrictive. In the international scientific literature, isolated clinical cases of LVNC development with variants of the FLNC gene nucleotide sequence are presented. In our work, we present a case report of LVNC with a variety of clinical manifestations within the same family.
Highlights
Некомпактный миокард левого желудочка (НМЛЖ) — это гетерогенное заболевание сердца, с различными фенотипическими и клиническими проявлениями
As a result of a molecular genetic testing, all family members with the left ventricular non-compaction (LVNC) phenotype were found to have a likely pathogenic variant in the FLNC gene. Variants in this gene are associated with a number of cardiomyopathies: dilated, hypertrophic, and restrictive
We present a case report of LVNC with a variety of clinical manifestations within the same family
Summary
Некомпактный миокард левого желудочка (НМЛЖ) — это гетерогенное заболевание сердца, с различными фенотипическими и клиническими проявлениями. Отдела клинической кардиологии, ORCID: 00000002-3138-054X, Мясников Р. Отдела клинической кардиологии, ORCID: 0000-0002-9024-5364, Мешков А. М. — лаборант-исследователь отдела клинической кардиологии, ORCID: 0000-0001-8846-8481, Мершина Е.
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