Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most common cause of the disease, associated with conventional ARVC phenotype. The study aims to evaluate the prevalence of PKP2 variants and examine genotype–phenotype correlation in Polish ARVC cohort. All 56 ARVC patients fulfilling the current criteria were screened for genetic variants in PKP2 using denaturing high-performance liquid chromatography or next-generation sequencing. The clinical evaluation involved medical history, electrocardiogram, echocardiography, and follow-up. Ten variants (5 frameshift, 2 nonsense, 2 splicing, and 1 missense) in PKP2 were found in 28 (50%) cases. All truncating variants are classified as pathogenic/likely pathogenic, while the missense variant is classified as variant of uncertain significance. Patients carrying a PKP2 mutation were younger at diagnosis (p = 0.003), more often had negative T waves in V1–V3 (p = 0.01), had higher left ventricular ejection fraction (p = 0.04), and were less likely to present symptoms of heart failure (p = 0.01) and left ventricular damage progression (p = 0.04). Combined endpoint of death or heart transplant was more frequent in subgroup without PKP2 mutation (p = 0.03). Pathogenic variants in PKP2 are responsible for 50% of ARVC cases in the Polish population and are associated with a better prognosis. ARVC patients with PKP2 mutation are less likely to present left ventricular involvement and heart failure symptoms. Combined endpoint of death or heart transplant was less frequent in this group.

致心律失常性右心室心肌病（ARVC）主要是由编码桥粒蛋白的基因突变引起。 plakophilin-2 基因 ( PKP2 ) 的变异是该疾病最常见的原因，与传统的 ARVC 表型相关。该研究旨在评估波兰 ARVC 队列中PKP2变异的患病率并检查基因型-表型相关性。使用变性高效液相色谱或新一代测序对所有 56 名符合当前标准的 ARVC 患者进行PKP2遗传变异筛查。临床评估包括病史、心电图、超声心动图和随访。在 28 例 (50%) 病例中发现PKP2 的10 个变异（5 个移码、2 个无义、2 个剪接和 1 个错义）。所有截短变异都被分类为致病/可能致病，而错义变异被分类为意义不确定的变异。携带PKP2突变的患者诊断时年龄较小 ( p = 0.003)，V1-V3 中 T 波更常见 ( p = 0.01)，左心室射血分数较高 ( p = 0.04)，且出现症状的可能性较小心力衰竭（ p = 0.01）和左心室损伤进展（ p = 0.04）。在没有PKP2突变的亚组中，死亡或心脏移植的联合终点更为常见 ( p = 0.03)。波兰人群中 50% 的 ARVC 病例是由PKP2的致病变异引起的，并且与更好的预后相关。具有PKP2突变的 ARVC 患者出现左心室受累和心力衰竭症状的可能性较小。 在该组中，死亡或心脏移植的联合终点事件较少发生。