Abstract
The article presents the examination of three generations of a family with diagnosed left ventricular noncompaction (LVNC) and various phenotypic manifestations of the disease (isolated, hypertrophic and dilated type of LVNC). As a result of a molecular genetics tests, a previously undescribed single nucleotide deletion in the PRDM16 gene was revealed in all family members with the LVNC phenotype, leading to a frameshift mutation in exon 9 and the formation of a premature termination codon. This gene encodes a transcription factor responsible for after-birth suppressing the expression of genes involved in prenatal and postnatal development. Despite the presence of previous studies showing the relationship of the PRDM16 gene with LVNC development, currently there are insufficient data to prove the pathogenicity of the identified variant. However, the segregation of the symptomatic variant in three generations supports the association of the identified variant with LVNC. With the accumulation of information about changes in PRDM16 in patients with cardiomyopathies, it is possible to change the status of this gene and clarify its contribution to primary heart diseases.
Highlights
артериального давления (АД) — артериальное давление, ЖЭС — желудочковая экстрасистолия, КДР — конечный диастолический размер, КМП — кардиомиопатия, ЛЖ — левый желудочек, магнитно-резонансной томографии (МРТ) — магнитно-резонансная томография, Некомпактный миокард левого желудочка (НМЛЖ) — некомпактный миокард левого желудочка, сердечной недостаточности (СН) — сердечная недостаточность, ТМЖП — толщина межжелудочковой перегородки, ФВ — фракция выброса, ХМ-ЭКГ — холтеровское мониторирование электрокардиограммы, частотой сердечных сокращений (ЧСС) — частота сердечных сокращений, ЭхоКГ — эхокардиография, NGS — высокопроизводительное секвенирование
The article presents the examination of three generations of a family with diagnosed left ventricular noncompaction (LVNC) and various phenotypic manifestations of the disease
As a result of a molecular genetics tests, a previously undescribed single nucleotide deletion in the PRDM16 gene was revealed in all family members with the LVNC phenotype, leading to a frameshift mutation in exon 9 and the formation of a premature termination codon
Summary
As a result of a molecular genetics tests, a previously undescribed single nucleotide deletion in the PRDM16 gene was revealed in all family members with the LVNC phenotype, leading to a frameshift mutation in exon 9 and the formation of a premature termination codon. При эхокардиографии (ЭхоКГ) выявлено: конечный диастолический размер (КДР) 5,2 см, толщина межжелудочковой перегородки (ТМЖП) 0,8 см, фракция выброса (ФВ) левого желудочка (ЛЖ) 47%, признаки НМЛЖ в области верхушки и боковой стенки (критерии Chin, Stollberger, Jenni). По данным ЭхоКГ, КДР 5,3 см, ТМЖП 0,8 см, ФВ 38%, диастолическая дисфункция 2 типа, признаки НМЛЖ в области верхушки и боковой стенки (критерии Chin, Jenni, Stollberger [6,7,8]). По данным ЭхоКГ, КДР 4,9 см, ТМЖП 1,0 см, ФВ 53%, признаки синдрома некомпактного миокарда в области верхушки, боковой и задней стенок (критерий Stollberger). По данным МРТ сердца (рис. 3), камеры сердца не расширены, сократимость миокарда ЛЖ не снижена, участков фиброза, рубцового и поствоспалительного поражения миокарда не выявлено, строение миокарда обычное, несколько повышена
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