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

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

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.

• Jezik: Angleški jezik
• Ključne besede: arrhythmogenic non-dilated left ventricular cardiomyopathy, cardiogenetics, cardiology, DSP, DSP:c.3793G>T, founder
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: BF - Biotehniška fakulteta ; MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2024
• Št. strani: Str. 500–504
• Številčenje: Vol. 106, iss. 4
• PID: 20.500.12556/RUL-161044-3686099f-5c1a-0cdb-059b-853f62acfee4
• UDK: 575:61
• ISSN pri članku: 0009-9163
• DOI: 10.1111/cge.14567
• COBISS.SI-ID: 198735619
• Datum objave v RUL: 06.09.2024

Gradivo je del revije

• Naslov: Clinical genetics
• Skrajšan naslov: Clin. genet.
• Založnik: Wiley
• ISSN: 0009-9163
• COBISS.SI-ID: 21015

Licence

• Licenca: CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
• Opis: Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.

Projekti

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: P3-0326
• Naslov: Ginekologija in reprodukcija: genomika za personalizirano medicino

• Financer: ARIS - Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije
• Številka projekta: V3-2359
• Naslov: Inovativno izobraževanje na področju redkih bolezni