Holt-Oram syndrome.

BACKGROUND: Holt-Oram syndrome (HOS) is a rare genetic illness, which concerns disturbances in the appearance of the upper limbs, congenital heart malformations, and cardiac conduction diseases. HOS usually requires the implantation of a pacemaker, because of cardiac conduction disturbances. CASE REPORT: We present the case of a patient with HOS qualified for pacemaker implantation due to overt bradycardia. To prevent the development of heart failure in the future, the His-bundle pacing technique was used. The implantation was successful. In the control, after one year, the man remains in good condition. The pacing was over 90%, and the left ventricular ejection fraction (LVEF) was stable (60%). CONCLUSIONS: So far, there are no reports on which methods of stimulation are required when it comes to patients with HOS. His-bundle pacing technique is a new type of physiological pacing, which can avoid heart failure.

Relationship between polymorphism rs2794521 in CRP gene and survival of depressive patients with chronic heart failure.

OBJECTIVE: Currently, there is a lack of studies combining the relationship between depression, chronic heart failure (CHF) and CRP polymorphisms (SNPs). The objective of the study was the investigation of the potential influence of rs2794521 in CRP on the survival and clinical profile of patients suffering from both depression and CHF. PATIENTS AND METHODS: 103 CHF individuals were studied to evaluate depression occurrence and to compare values of cardiac, laboratory and nutritional parameters depending on CRP genotypes. RESULTS: The higher frequency of CC genotype was found in depressive patients (p=0.021). Serum CRP concentration was significantly higher in depressed patients than in non-depressed ones (p=0.032). CC depressive individuals demonstrated greater frequency of NYHA grade III-IV (p<0.001) and higher level of circulating CRP (p=0.001) and TNF-α (p=0.042) compared with CT or TT carriers. CC individuals were more frequently classified as moderately or severely malnourished according to SGA (p=0.014). CC genotype was associated with a higher risk of early death during the 72 months of the follow-up (HR=4.01; p=0.006 for CC vs. CT vs. TT and HR=4.46; p<0.001 for CC vs. CT+TT). CONCLUSIONS: CC genotype of CRP more frequently occurs in depressive CHF patients, and it is associated with worse clinical outcomes and disease prognosis.

Effect of polymorphism rs1799964 in TNF-α gene on survival in depressive patients with chronic heart failure.

OBJECTIVE: To date, there are no literature reports combining the relationship between depression and chronic heart failure (CHF) in relations to selective nutritional, cardiac and laboratory parameters. The aim of this study was to correlate the rs1799964 genotypes in TNF-α with clinical outcomes of depressive CHF patients. PATIENTS AND METHODS: 94 CHF patients were enrolled to assess depression prevalence and to compare values of cardiac, laboratory and nutritional parameters between depressed and non-depressed patients with different rs1799964 genotypes. RESULTS: Depression was diagnosed in 66 individuals (70.2%). We noted significant reduction of EF% in CC genotype carriers compared to other patients (mean EF%: 36±11 CC vs. 44±14 CT and 46±7 TT; p=0.023) and worse outcomes in NYHA examination (p=0.033). We noticed a significant increase in serum CRP and TNF-α in CC patients (p=0.003 and p<0.001). Compared with T allele carriers, the CHF patients bearing CC genotype were more frequently diagnosed as cachectic (cachexia incidence for CC - 80% vs. 28% for CT and 38.7% for TT; p=0.017). CC genotype of rs1799964 was found as unfavorable factor affecting survival of depressive CHF patients (HR=8.87; p<0.001). CONCLUSIONS: The presence of the CC genotype in patients with depression and CHF can be considered an unfavorable prognostic factor related to the risk of shortening the life expectancy and deteriorating its quality, which is reflected in the severity of inflammation.