Tatyana Vershinina

Tatyana Vershinina

orcid

Research Focus & Metrics

Academic Career Length

7Years (2020-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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15 October 2020 in Genes
Verified
Journal Article
Open access
PDF file
JJJohn Jörholt
John Jörholt
YFYulya Fomicheva
Yulya Fomicheva
TVTatyana Vershinina
Tatyana Vershinina
AKArtem Kiselev
Artem Kiselev
AMAlexey Muravyev
Alexey Muravyev
AKAnna Kostareva
Anna Kostareva
Hypertrophic cardiomyopathy associated with damaging variants in the ALPK3 gene is a fairly recent discovery, and only a small number of patients have been described thus far. Here we present two additional patients with hypertrophic cardiomyopathy caused by biallelic variants in ALPK3. Genetic investigation was performed using a targeted gene panel consisting of known cardiomyopathy-associated genes and whole exome sequencing. The patients showed a large difference in the age of onset, and both presented with extracardiac features that are often seen in ALPK3 patients. The patient with the later onset showed milder extracardiac symptoms, such as decreased muscle tone and distal muscular dystrophy, but had fast progression of cardiac complications leading to the need of heart transplantation. This study further elucidates the variability of both symptoms and age of onset among these patients.