Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients

Vodnjov, Nina (author), Zupan Mežnar, Anja (author), Maver, Aleš (author), Dolinšek, Ajda (author), Peterlin, Borut (author), Writzl, Karin (author)

DSP-cardiomyopathy has recently been recognised as a specific type of cardiomyopathy. Using an in-house Mendelian disease registry, we aimed to identify probands with likely pathogenic or pathogenic DSP variants. We detected these variants in 4.8% and 77.8% of genotype-positive probands referred for dilated and non-dilated left ventricular cardiomyopathy (NDLVC), respectively. We identified six Slovenian probands with the DSP:c.3793G>T and characterised them along with further eight of their relatives at the molecular and phenotypic level. Medical records revealed NDLVC with arrhythmia in six individuals (five probands, one relative; 33 ± 14 years; three males, three females). All had subepicardial late gadolinium enhancement on cardiac MRI (CMRI), and five received an ICD. Four individuals (one proband, three relatives; 48 ± 14 years; all female) had no ECG and/or cardiac abnormalities on CMRI detected. Our analysis presents a Slovenian-specific molecular pathology of DSP cardiomyopathy, delineates the clinical manifestation of DSP:c.3793C>T, and thereby improves the understanding of the clinical outcomes associated with truncating DSP variants.

• Language: English
• Keywords: arrhythmogenic non-dilated left ventricular cardiomyopathy, cardiogenetics, cardiology, DSP, DSP:c.3793G>T, founder
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: BF - Biotechnical Faculty; MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2024
• Number of pages: Str. 500–504
• Numbering: Vol. 106, iss. 4
• PID: 20.500.12556/RUL-161044-3686099f-5c1a-0cdb-059b-853f62acfee4
• UDC: 575:61
• ISSN on article: 0009-9163
• DOI: 10.1111/cge.14567
• COBISS.SI-ID: 198735619
• Publication date in RUL: 06.09.2024

Record is a part of a journal

• Title: Clinical genetics
• Shortened title: Clin. genet.
• Publisher: Wiley
• ISSN: 0009-9163
• COBISS.SI-ID: 21015

Licences

• License: CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
• Link: http://creativecommons.org/licenses/by-nc-nd/4.0/
• Description: The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.

Projects

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: P3-0326
• Name: Ginekologija in reprodukcija: genomika za personalizirano medicino

• Funder: ARIS - Slovenian Research and Innovation Agency
• Project number: V3-2359
• Name: Inovativno izobraževanje na področju redkih bolezni