Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the five human RecQ helicases, RECQL3/BLM. The disorder manifests clinically as growth deficiency, skin anomalies, immunodeficiencies, insulin resistance, and a high predisposition to cancers. Less than 300 patients have been reported so far. In this paper, we report on the first Romanian patient of bi-ethnic origin, molecularly diagnosed with Bloom syndrome. As the most severe complications of the disorder are the malignancies, developing even in childhood, an early diagnosis is essential for further surveillance and therapeutic approach of Bloom patients.

Background: Cardiac resynchronization therapy (CRT) is an established treatment for heart failure with reduced ejection fraction (HfrEF). Etiology may influence the outcome of patients undergoing CRT. Objective: to evaluate whether etiology (ischemic vs non-ischemic) influences the response to CRT and overall outcome. Methods: Our study included HFrEF patients undergoing CRT between January 2017-November 2019. We assessed right ventricle (RV) and left ventricle (LV) function using transthoracic echocardiography at baseline and one year after CRT. The response to CRT was defined by a decrease of more than 15% of left ventricle systolic volume. Patients were divided in two groups: ischemic and non-ischemic based on personal history. Adverse events (HF related hospitalizations and deaths) were tracked for 33± 12.8 months. Results: 52 patients undergoing CRT were included (64±13.5 years, 55.7% male, 70% non-ischemic etiology) The two groups were similar considering LV systolic baseline parameters and volumes. Ischemic etiology was associated with non-LBBB morphology on ECG (p=0.03), a more severe LV diastolic dysfunction using E/e ratio (p<0.05), and a more severe RV dysfunction using TAPSE (p=0.008) and RV fractional area change (FAC) (p<0.05). There was no significant difference in CRT response between ischemic and non-ischemic etiology. 14 (26.9%) patients had events (10 hospitalizations and 4 deaths) with a higher prevalence in the ischemic group (58.33% vs 25%, p=0.01). Univariate Cox regression analysis reported a higher risk of cardiovascular events for ischemic etiology (HR 2.4, 95% CI [0.8-8.1], p <0.05). In our cohort there was no significant difference in use of an implantable cardioverter-defibrillator in addition to CRT between ischemic and non-ischemic group (64.2% respectively 63.3%, p =0.3). Conclusion: Our study shows that ischemic and non-ischemic HF patients had similar response to CRT. However, ischemic etiology was associated with a higher risk of adverse cardiovascular events and a worse RV systolic dysfunction at baseline.

Background: Recent data suggest that the mechanisms contributing to ischaemic mitral regurgitation (IMR) in the setting of acute myocardial infarction (MI) are different compared to chronic IMR. However, little is known about the dynamic changes over time of mitral valve (MV) geometry after acute MI. Methods and results:Comprehensive three-dimensional (3D) assessment of the MV geometry was performed in 30 patients in the first 7 days after a first ST elevation myocardial infarction (STEMI), and after 4 years of follow-up. The MV annulus diameters and area remained unchanged over time, however the MA became progressively flatter (mean difference of annular height 0.19±0.33 cm, p<0.05), independently of the presence or severity of IMR. The posterior leaflet length and area got smaller over time (1.53±0.51 cm vs 1.27±0.33 cm; p<0.05 and 5.65±1.58 cm2 vs 4.88±1.65 cm2; p<0.05, respectively). The tenting height and area were smaller at follow-up (9.06±2.6 mm vs 7.84±2.61 mm, p<0.05; and 1.88±0.6 cm2 vs 1.57±0.5 cm2; p<0.05, respectively). A larger tenting at follow-up correlated with 3D left atrial (LA) volumes, but not with LV volumes and ejection fraction. Conclusions: MV geometry changes over time even in patients with non-severe IMR. The MV healing process consists in annulus flattening associated with improved tenting.

Echocardiography is the first cardiac imaging technique used to evaluate patients presenting with acute coronary syndrome (ACS). However, in the absence of wall motion abnormalities, conventional echocardiography at rest provides little information. Patients presenting with low risk ACS usually have normal wall motion and left ventricle ejection fraction (LVEF) at rest.

In Romania, a high cardiovascular (CV) risk East European country, where prevalence of hypertension is still high and optimal blood pressure control still represents a doubtfull challange (1-5), adopting a treatment approach strategy based on total cardiovascular risk assessment can maximize the costeffectiveness of hypertensive patinets management, ensuring the best use of the limited resources of our health-care system, to prevent cardiovascular diseses and to decrease CV morbidity and mortality.
Recent research show that increased arterial stiffness represents an independent predictor of fatal and non-fatal CV events in hypertensive patients (6-10).

The reentrant paroxysmal supraventricular tachycardias with narrow QRS complex are in a large majority represented by atrioventricular reentrant tachycardia (AVRT) and atrioventricular nodal reentrant tachycardia (AVNRT). From an electrophysiological (EP) point of view the difference between the two forms is made by the type of the reentry circuit. That means that the former requires an accessory pathway with retrograde conduction while the latter implies the existence of perinodal pathways.
The left atrium (LA) is a part of the circuit in both types of arrhythmias. In sinus rhythm the left atrium has several functions: it acts as a conduit during protodiastole, it has a contractile function raising the filling pressure during atrial systole but it also has a reservoir function during ventricular systole. (1)