Isolated Persistent Left Superior Vena Cava, Sick Sinus Syndrome, and Challenging Pacemaker Implantation

Persistent left superior vena cava with absent right superior vena cava is a very rare venous anomaly and is known as isolated PLSVC. It is usually an asymptomatic anomaly and is mostly detected during difficult central venous access or pacemaker implantation, though it could also be associated with an increased incidence of congenital heart disease, arrhythmias, and conduction disturbances. Herein, we describe a dual-chamber pacemaker implantation in a patient with isolated PLSVC and sick sinus syndrome

Kink of Subclavian Artery Mimicking Stenosis

The treatment for subclavian artery stenosis includes the more common endovascular therapy rather than surgical intervention in symptomatic patients. We present a case of a 79-year-old man with coronary artery bypass graft where subclavian artery stenosis was found incidentally. In this asymptomatic case, we have merged clinical and multiple imaging modalities to secure the diagnosis and treatment plan

Kink of Subclavian Artery Mimicking Stenosis

The treatment for subclavian artery stenosis includes the more common endovascular therapy rather than surgical intervention in symptomatic patients. We present a case of a 79-year-old man with coronary artery bypass graft where subclavian artery stenosis was found incidentally. In this asymptomatic case, we have merged clinical and multiple imaging modalities to secure the diagnosis and treatment plan

Zależność między stężeniem witaminy B12 a oceną w skali SYNTAX

Background: Vitamin B12 is required in the metabolism of homocysteine. Vitamin B12 deficiency has been implicated in endothelial dysfunction and cardiovascular disease via hyperhomocysteinaemia. However, the association of vitamin B12 and the severity of coronary artery disease has not been studied to date.   Aim: This study was conducted with the aim of evaluating the relationship between vitamin B12 and SYNTAX score.   Methods: Medical records of consecutive patients who underwent coronary artery bypass grafting surgery were retrospectively reviewed. The study group consisted of 127 patients. Vitamin B12, other biochemical parameters, clinical and echocardiographic parameters, and SYNTAX score were evaluated for all patients.   Results: Patients with vitamin B12 deficiency had a higher prevalence of cardiovascular risk factors such as diabetes mellitus, and history of transient ischaemic attack/stroke and heart failure. The SYNTAX score was significantly higher in patients with vitamin B12 deficiency (29.2 ± 4.9 vs. 22.5 ± 4.5, p < 0.05).   Conclusions: In our study, we found a significant relationship between vitamin B12 deficiency and SYNTAX score, demon­strating the severity and complexity of coronary artery disease.   Wstęp: Witamina B12 jest potrzebna do metabolizowania homocysteiny. Jej niedobór wiąże się z dysfunkcją śródbłonka i chorobami układu sercowo-naczyniowego poprzez hiperhomocysteinemię. Jednak dotychczas nie zbadano związku stężenia witaminy B12 ze stopniem ciężkości choroby wieńcowej.   Cel: Celem niniejszego badania była ocena zależności między stężeniem witaminy B12 a oceną w skali SYNTAX.   Metody: Przeprowadzono retrospektywną analizę danych medycznych chorych poddanych zabiegowi pomostowania aortalno-wieńcowego. Badana grupa liczyła 127 osób. U wszystkich pacjentów oceniano stężenie witaminy B12, inne parametry biochemiczne, objawy kliniczne, parametry echokardiograficzne oraz liczbę punktów wg skali SYNTAX.   Wyniki: U chorych z niedoborem witaminy B12 częściej występowały czynniki ryzyka sercowo-naczyniowego, takie jak cukrzyca, przebyte przemijające niedokrwienie mózgu/przebyty udar, niewydolność serca. Liczba punktów wg skali SYNTAX była istotnie większa u pacjentów z niedoborem witaminy B12 (29,2 ± 4,9 vs. 22,5 ± 4,5; p < 0,05).   Wnioski: W badaniu stwierdzono istotną zależność między niedoborem witaminy B12 a oceną w skali SYNTAX odzwierciedlającą stopień ciężkości i złożoność choroby wieńcowej.  

Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists, patients, and their families, as well as elucidating the genetic basis of monogenic and complex diseases in clinical diagnosis. However, interpreting and reporting variants encompassing exome and genome sequence analysis outcome data are one of the greatest challenges of the genomic era. In this study, we aimed to investigate the frequency and allele frequency spectrum of single nucleotide variants accepted as recessive disease carrier status in Turkish Cypriot exomes. The same sequencing platform and data processing line were used for the analysis of data from 100 Turkish Cypriot whole-exome sequence analysis. Identified variants were classified according to ACMG guidelines, and pathogenic variants were confirmed in other databases such as ClinVar, HGMD, Varsome, etc. Pathogenic variants were detected in 68 genes out of 100 whole-exome sequence data. The carriage rate was the highest in the CYP21A2 gene, causing 21-hydroxylase deficiency (14.70%), 11.76% in the HBB gene causing β-thalassemia, 10.29% in the BTD gene causing biotinidase deficiency, 8.82% in the CFTR gene causing cystic fibrosis, 8.82% in the RBM8A gene causing thrombocytopenia-absent radius syndrome, which is an ultra-rare disease, and 5.88% in the GAA gene causing glycogen storage disease II. The carriage of pathogenic variants in other genes causing the disease (GJB2, PAH, GALC, CYP11B2, COL4A3, HBA1, etc.) was determined as less than 5.00%. Also, the identified variations in the mentioned gene within the examined population were reported. The most prevalent mutation in North Cyprus was a missense variant (c.1360 C>T, p.Pro454Ser) detected in the CYP21A2 gene (rs6445), and the most frequently seen variant in the HBB gene was c.93-21G>A (rs35004220). We investigated reported pathogenic variants by estimating the lower and upper limits of carrier and population frequencies for autosomal recessive diseases, for which exome sequencing may reveal additional medically relevant information. Determining the lower and upper limits of these frequencies will shed light on preventive medicine practices and governmental actions