About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G>T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.

Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype–phenotype correlations are the way to improve the precision of our diagnostics. We present a familial case of LVNC with arrhythmic and thrombotic complications, myocardial fibrosis and heart failure, cosegregating with the splicing variant in the FHOD3 gene. This is the first description of FHOD3-dependent LVNC to our knowledge. We also revise the assumed mechanism of pathogenesis in the case of FHOD3 splicing alterations.

Aim. To study the clinical and anamnestic characteristics, pharmacotherapy of cardiovascular diseases (CVD) and long-term outcomes in post-COVID-19 patients with cardiovascular multimorbidity (CVMM), enrolled in the prospective hospital registry.Material and methods. In patients with confirmed COVID-19 included in the TARGET-VIP registry, the CVMM criterion was the presence of two or more CVDs: arterial hypertension (AH), coronary heart disease (CHD), chronic heart failure (CHF), atrial fibrillation (AF). There were 163 patients in the CVMM group and 382 – in the group without CVD. The information was obtained initially from hospital history sheet, and afterwards – from a telephone survey of patients after 30-60 days, 6 and 12 months, from electronic databases. The follow-up period was 13.0±1.5 months.Results. The age of post-COVID patients with CVMM was 73.7±9.6 years, without CVD – 49.4±12.4 years (p<0.001), the proportion of men was 53.9% and 58.4% (p=0.34). In the group with CVMM the majority of patients had AH (92.3-93.3%), CHD (90.4-91.4%), and minority – CHF (42.7-46.0%) and AF (42.9-43.4%). The combination of 3-4 CVDs prevailed (58.9-60.3%). The proportion of cases of chronic non-cardiac pathologies was higher in the CVMM group (80.9%) compared to the group without CVD (36.7%; p<0.001). The frequency of proper cardiovascular pharmacotherapy during the follow-up period decreased from 56.8% to 51.3% (p for trend = 0.18). The frequency of anticoagulant therapy in AF decreased significantly: from 89.1% at the discharge from the hospital to 56.4% after 30-60 days (p=0.001), 57.1% and 53.6% after 6 and 12 months of monitoring (p for a trend <0.001). There were no other significant changes in the frequency of other kinds of the proper cardiovascular pharmacotherapy (p>0.05). There were higher rate of all-cause mortality among patients with CMMM (12.9% vs 2.9%, p<0.001) as well as rates of hospitalization (34.7% and 9.9%, p<0.001) and non-fatal myocardial infarction (MI) – 2.5% vs 0.5% (p=0.048). The proportion of new cases of CVD in the groups with CVMM and without CVD was 5.5% and 3.7% (p=0.33). The incidence of acute respiratory viral infection (ARVI)/influenza was higher in the group without CVD – 28.3% vs 19.0% (p=0.02). The proportion of cases of recurrent COVID-19 in groups with CVMM and without CVD was 3.7 % and 1.8% (p=0.19).Conclusion. Post COVID-19 patients with CVMM were older and had the bigger number of chronic non-cardiac diseases than patients without CVD. The quality of cardiovascular pharmacotherapy in patients with CVMM was insufficient at the discharge from the hospital with following non-significant decrease during 12 months of follow-up. The frequency of anticoagulant therapy in AF decreased by 1.6 times after 30-60 days and by 1.7 times during the year of follow-up. The proportion of new cases of CVD was 5.5% and 3.7% with no significant differences between compared groups. The rate of all-cause mortality, hospitalizations and non-fatal MI was significantly higher in patients with CVMM, but the frequency of ARVI/influenza was significantly higher in patients without CVD. Recurrent COVID-19 was registered in 3.7% and 1.8% of cases, there were no significant differences between compared groups.