Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?

Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene analysis for FD in patients suffering from unexplained LVH. 120 patients over the age of 30 who were diagnosed by echocardiography with idiopathic LVH were included in the study. Patients with severe hypertension, intermediate valve disease such as moderate aortic stenosis, known FD, and a family history of autosomal dominant hypertrophic cardiomyopathy were excluded from the study. GLA gene mutations were studied by Sanger sequence analysis in all patients. Of the 120 total patients included in this study, 69 were female (58%) and 51 were male (42%). The mean age was 60.3 ± 15.7. GLA gene mutations were detected in three male patients. The detected mutations are as follows: NM_000169.2:IVS6-10G>A (c.1000-10G>A), NM_000169.2:c.937G>T (p.D313Y) (p.Asp313Tyr) and NM_000169.2:c.941A>T (p.K314M) (p.Lys314Met). Early diagnosis is of vital importance in FD, which can be treated with enzyme replacement. Genetic screening in patients diagnosed with idiopathic LVH by echocardiography is important in the early diagnosis and treatment of FD. Patients over 30 years of age with idiopathic LVH should be screened for FD. Various new polymorphisms can be detected in genetic screening. Identifying new polymorphisms is important for knowing the true mutations in FD.

Evaluation of index of cardiac electrophysiological balance in COVID-19 patients.

AIM: The aim of the current study was to evaluate the index of Cardiac Electrophysiological Balance (iCEB) in hospitalized COVID-19 patients receiving Hydroxychloroquine / azithromycin (HCQ / AZ) combination therapy to determine the susceptibility to ventricular arrhythmia among these patients. METHOD: Sixty-seven COVID-19 patients admitted to the ward were included in the study. Electrocardiograms (ECGs) were obtained from all patients before the initiation of treatment and on treatment day 5. QT/QRS (iCEB) and QTc/QRS (iCEBc) ratios were calculated. RESULTS: QRS, QT and QTc intervals were significantly prolonged on day 5 measurements compared to pre-treatment period (p <0.05). Overall, mean iCEB was 3.6±0.4 before treatment and 3.8±0.4 on day 5 in the study population (p <0.001). Considering the iCEBc values, a significant increase was observed in patients receiving HCQ/AZ treatment compared to pre-treatment period (4.1±0.5 vs 4.4±0.6; p <0.001). CONCLUSIONS: To the best of our knowledge, this was the first study to investigate iCEB and iCEBc parameters in patients with COVID-19 on HCQ/AZ therapy. In this study, we demonstrated significantly increased iCEB and iCEBc values following HCQ/AZ treatment in COVID-19 patients. iCEB and iCEBc may serve as a noninvasive, simple, and novel biomarker for detecting increased pro-arrhythmia risk in COVID-19 patients (Tab. 3, Fig. 3, Ref. 36).

Aortic flow propagation velocity and neutrophil-to-lymphocyte ratio in coronary slow flow.

AIM: A useful tool for determining the presence of systemic inflammation is the neutrophil-to-lymphocyte ratio (NLR). Chronic inflammation causes more microvascular resistance, which is known to be involved with coronary slow flow (CSF). Aortic flow propagation velocity (APV) can be used to evaluate the aorta's rigidity. We hypothesized that NLR and APV might be related to CSF. Therefore, we aimed to evaluate the NLR and APV in CSF patients. METHOD: Eighty-six CSF patients and 43 subjects with normal coronary flow were enrolled in this study. We utilized the Thrombolysis in Myocardial Infarction (TIMI) frame count (TFC) method for determining each enrolled patient's coronary flow rate. APV values were determined via color M-mode Doppler echocardiography. Differences in NLR and APV values were determined in CSF and control groups. RESULTS: Patients with CSF had lower APV values and higher NLR values than the normal controls (39.9±11.4 vs 48.0±10.6, p<0.01; 3.3±2.8 vs 2.3±1.2, p=0.03). TFC was significantly higher in CSF patients compared to controls (29.8±5.0 vs 12.9±2.6; p<0.01). TFC and APV were negatively correlated in CSF patients (r=-0.338 p=0.001). APV was independently associated with CSF (OR: 1.164, CI: 1.078-1.257, p=0.001). CONCLUSIONS: APV was significantly associated with TFC, and it is independently associated with CSF (Tab. 4, Fig. 3, Ref. 30). Text in PDF www.elis.sk Keywords: coronary slow flow, neutrophil-to-lymphocyte ratio, aortic flow propagation velocity, atherosclerosis, inflammation.

The relationship between electrocardiographic findings and left ventricular apical thrombus.

OBJECTIVE: Persistent ST segment elevation, fragmented QRS (fQRS), and prominent R wave in lead aVR (Goldberger sign) are the parameters associated with ventricular aneurysm. The goal of this report was to examine the association with electrocardiographic findings (persistent ST elevation, QRS duration, LBBB, and Fragmented QRS [fQRS]) and LV apical thrombus in subjects following anterior MI. PATIENTS AND METHODS: The study was a prospective and cross-sectional analysis that comprised of 220 consecutive subjects diagnosed after anterior MI. The echocardiographic features of patients were evaluated at least 6 weeks after anterior MI. A 12-point ECG was collected on all subjects admitted to the hospital. LBBB, persistent ST elevation, QRS duration and fQRS were evaluated in these patients. RESULTS: The LV ejection fraction (LVEF) was lower in the thrombus group compared to the non-thrombus group (27.2 ± 7.1/33.2 ± 10.0, p=0.008).  In patients with LV apical thrombus (LVAT); LBBB, persistent ST elevation, QRS duration and fQRS were higher compared to those without LVAT (p<0.05). CONCLUSIONS: We demonstrated that the electrocardiographic findings (persistent ST elevation, QRS duration, LBBB, and fQRS) were closely associated with LVAT, and these findings were used as indicators of LV thrombi in anterior MI patients.

Containment measures established during the COVID-19 outbreak and its impact on lipid profile and neutrophil to lymphocyte ratio.

OBJECTIVE: Almost all countries announced social restrictions and distancing measures which could unintentionally lead to a decline in admissions to hospital for acute disorders other than signs of pneumonia. We aimed to evaluate lipid profile, neutrophil to lymphocyte ratio (NLR) and cardiovascular admissions to the coronary care unit (CCU) of a tertiary center in Turkey during the COVID-19 era and to compare these results with admissions in the same time interval of the previous year. MATERIALS AND METHODS: We retrospectively analyzed CCU admissions due to new-onset atrial fibrillation, ST-elevation myocardial infarction, non-ST elevation acute coronary syndrome (NSTEACS) and acute heart failure during the COVID-19 outbreak and the same time interval of the past year. Laboratory measurements including lipid profile and NLR values were retrieved from the institutional digital database. RESULTS: Compared to the same time interval of 2019 (March-April, 2019), the number of patients admitted to the CCU with acute cardiovascular disorders (atrial fibrillation, STEMI, NSTEACS and acute heart failure) were lower in the COVID-19 period. The levels of NLR, total cholesterol, and low-density lipoprotein (LDL) cholesterol were significantly higher and high-density lipoprotein (HDL) cholesterol was significantly lower in subjects admitted to the CCU during March-April 2020 compared to subjects admitted in March-April 2019. CONCLUSIONS: Our findings show that subjects admitted to the CCU in the COVID-19 era have an unfavorable lipid profile and elevated NLR compared to those admitted in 2019. These patients appear to be at high risk for future cardiovascular events.

OVERTREATMENT AND HYPOGLYCEMIA PREVALENCE IN GERIATRIC PATIENTS WITH TYPE-2 DIABETES IN THE TURKISH POPULATION.

OBJECTIVE: To determine the prevalence of over-treatment and hypoglycemia in Turkish type-2 diabetes patients and to identify the risk factors. METHODS: Patients ≥ 65 years, having a minimum 5 years of type-2 diabetes, were included in the study. Patients' body mass index, mean HbA1c level, disease onset and medications related with their co-morbidities were recorded. Over-treatment is defined as the use of non-metformin therapies despite having HbA1c levels < 7%. A history of hypoglycemia episodes in the last three months and patients' home blood glucose measurements were recorded. Factors relating to hypoglycemia and over-treatment were analyzed. RESULTS: After applying criteria, 755 patients were included in the study: 728 patients (96.4%) had at least one comorbidity. 257 patients (34%) were found to have HbA1c levels < 7%. 217 of them (84.4%) were using non-metformin therapies. 497 patients (65.8%) were using insulin. The over-treatment prevalence in the ≥ 65 years group was 28.7%. The over-treatment ratio in ≥ 80 years group was 28.2%. Hypoglycemia prevalence in the last three months was 23.3%. It was 22.7% for patients ≥ 80 years. Mean age, disease duration, body mass index, insulin usage and doses were found to be significantly different in over-treated patients compared to the others. CONCLUSIONS: This study showed that despite recent guidelines, there is still a considerable amount of over-treated geriatric patients who are at risk of hypoglycemia and related morbidity and mortality. Insulinization rate was high. Physicians should not avoid de-intensifying the treatment of geriatric patients who have multiple co-morbidities.