20.500.12556/RUL-161044 Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients 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. arrhythmogenic non-dilated left ventricular cardiomyopathy cardiogenetics cardiology DSP DSP:c.3793G>T founder true false true Angleški jezik Ni določen Članek v reviji 2024-09-06 10:32:24 2024-09-06 10:32:26 2025-08-08 13:33:36 0000-00-00 00:00:00 2024 0 0 Str. 500–504 iss. 4 Vol. 106 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 575:61 0009-9163 10.1111/cge.14567 198735619 Clinical_Genetics_-_2024_-_Vodnjov_-_Non‐dilated_left_ventricular_cardiomyopathy_with_arrhythmias_is_commonly_caused_by_the.pdf Clinical_Genetics_-_2024_-_Vodnjov_-_Non‐dilated_left_ventricular_cardiomyopathy_with_arrhythmias_is_commonly_caused_by_the.pdf 1 21F2EE5ADEC9A096F27D4E73C271162E 5a183512c3dd03f0397c4a957acfdf52b6bea8b0c2c1f3a20a1dc08b1cadf2bd ecf6f433-6c2a-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=189902 https://onlinelibrary.wiley.com/doi/10.1111/cge.14567 0 c1183d60-6c2a-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=189900 Biotehniška fakulteta Medicinska fakulteta 0 0 0