Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the , SGCB, and genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees.

Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.

We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals-three of them symptomatic. Only one family with the same variant and with a Swedish origin has been clinically described so far.

Total Testosterone as a Specific Marker of Acute Kidney Injury in Male Patients With Myocardial Infarction.

Aim The aim of the present study was to assess the significance of total testosterone (T) as a marker of acute kidney injury (AKI) in patients with acute myocardial infarction (MI). Patients and methods The study was a retrospective, single-center cohort study that included 55 consecutive male patients diagnosed with acute MI who were admitted to the Cardiology Clinic of Alexandrovska University Hospital (Sofia, Bulgaria) between July 2011 and December 2013. The plasma total T levels, measured at admission, the peak levels of myocardial necrosis markers, high-sensitive C-reactive protein (hsCRP), and the left ventricular ejection fraction (LVEF) were analyzed in relation to the incidence of AKI.

Left Ventricular Diastolic Function: Comparison of Slow Coronary Flow Phenomenon and Left Ventricular Hypertrophy in the Absence of Obstructive Coronary Disease.

Background An interplay of myocardial structural abnormalities and coronary arterial dysfunction underlies the worsening left ventricular compliance. The conventionally used angina drugs have demonstrated a beneficial effect on both angina and coronary flow in cases with microvascular dysfunction and non-obstructive coronary disease. Despite that, vasoactive therapy only partially affects diastolic function in this patient population.

Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria.

Unlabelled: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, autosomal-dominant (AD) multisystem disorder resulting from the extracellular deposition of amyloid fibrils formed by a destabilized mutant form of transthyretin (TTR), a transport protein predominantly produced by the liver.

Aim: The aims of the current study are to demonstrate the Bulgarian experience with the screening programs among the high-risk patient population over the last 7 years, to present the results from the therapy with TTR stabilizer in our cohort, as well as to stress on the importance of a follow-up of asymptomatic carriers with TTR pathogenic variants by a multidisciplinary team of specialists.

Materials And Methods: In 2014, a screening program among the high-risk patient population for ATTRv was initiated in Bulgaria.