The role of detailed medical history for the early diagnosis of familial bradycardia in a patient with associated atrial fibrillation: case report.

Background: Bradycardia represents a frequent reason for medical presentation and has a complex aetiology, including genetic disorders, like LMNA mutation. LMNA mutation is responsible for laminopathies, including LMNA -cardiomyopathy. Cardiac involvement is prevalent and is linked to dilated cardiomyopathy associated with conduction block, which is anticipated by bradyarrhythmia and supraventricular tachyarrhythmia. LMNA mutation carriers have higher risk for sudden cardiac death (SCD), malignant ventricular tachycardia, and extreme bradycardia. Case summary: A 48-year-old female presented for recurrent episodes of dizziness, lightheadedness, headache, and fatigue, occurring at rest. The past medical history was positive for hypertension and one episode of paroxysmal atrial fibrillation. The family medical history was positive; both children and the patient's mother are known with bradycardia. The electrocardiogram showed sinus bradycardia, and the echocardiography revealed a mild concentric hypertrophy of the left ventricle, associated with impaired relaxation diastolic dysfunction. The 24 h Holter monitoring recorded sinus bradycardia, multiple pauses, paroxysmal atrial fibrillation, and multiple episodes of junctional rhythm. The positive family medical history suggested a genetic link. Further, genetic testing was performed, revealing a mutation of the LMNA gene. Discussion: Despite apparently benign at the initial presentation, the correct diagnosis and management required detailed medical history and extensive investigation of both the patient and the first-degree relatives. As the LMNA mutation carriers have a higher risk for SCD and have a mortality risk of 40% at 5 years, we emphasize the role of early diagnosis and periodic monitoring for preventing the worsening of the condition. .

Acute Respiratory Failure, Ischemic Modifications on Electrocardiogram: Alternative Etiology-A Case of Morgagni Hernia.

We discovered a rare pathology described in adulthood, followed by the development of a long asymptomatic evolution, which underlined the importance of multidisciplinary collaboration. We present the case of a 62-year-old female smoker patient, with a known previous medical history of chronic ischemic heart disease, hypertension, chronic obstructive pulmonary disease (COPD), gastric ulcer and gastritis. The patient was rushed to the emergency room (ER) with acute respiratory failure, chest discomfort, ankle and facial edema and a chest X-ray showing a right lower pulmonary lobe consolidation, with an alarming ischemic electrocardiogram (ECG) modification without increasing myocardial cytolysis indicators. This led our medical team to investigate a possible cardiovascular event that might have been in development. After immediate admission, thoracic computer tomography (CT) imaging was carried out, which found a Morgagni diaphragmatic hernia, containing adipose tissue and the hepatic flexure of the colon with approximate dimensions of 50/100 mm. We faced differential diagnostic problems. We knew the subject's existing cardiac and chronic respiratory tract pathologies from their previous medical history; therefore, multiple investigations and check-ups were carried out. A chest CT and surgery intervention were needed to resolve this case. Subsequently, the acute respiratory failure and alarming ischemic ECG modification disappeared.

Inflammatory Markers and Thromboembolic Risk in Patients with Non-Muscle-Invasive Bladder Cancer.

INTRODUCTION: Patients with bladder cancer have a high risk of venous thrombosis that represents a key challenge for physicians in the decision-making for initiating anticoagulation therapy. Non-muscle-invasive bladder cancer (NMIBC) represents more than 70% of all diagnosed bladder malignancies; therefore, we aimed to evaluate the relationship of the neutrophil to lymphocyte ratio (NLR), lymphocyte to monocyte ratio (LMR), and risk of thrombosis by using the International Medical Prevention Registry on Venous Thromboembolism (IMPROVE) score as well as the risk of bleeding by using the IMPROVE Bleeding Risk Assessment Score in a study cohort. MATERIAL AND METHODS: This was a retrospective observational study involving 130 patients who met the inclusion criteria: age > 18 years, stage pTa-pT1 NMIBC. The exclusion criteria were age < 18 years; stage pT2 or higher; or a presentation of metastasis, inflammatory, liver or autoimmune diseases, or other systemic neoplasms. In order to evaluate the risk of thromboembolic events as well as those of bleeding, the IMPROVE scores were calculated for each patient. Subjects were categorized in a Low IMPROVE group (< 4 points) or a High IMPROVE group. By using uni- and multivariate regression models, we analyzed CBC-derived parameters which could be associated with a higher risk of venous thrombosis in subjects with low or high IMPROVE scores. RESULTS: Patients with IMPROVE score greater than 4 were associated with higher NLR, LMR and lymphocyte values (p < 0.05). In a multivariate regression model, the IMPROVE score was significantly influenced by lymphocyte count (p = 0.007) as well as the NLR value (p < 0.0001). CONCLUSIONS: In our study population, subjects with NMIBC with low lymphocytes and NLR > 3 were at a higher risk of developing venous thromboembolic events, reflected by an IMPROVE score of greater than 4. The IMPROVE and IMPROVE Bleeding Risk Assessment Scores are easy to use, and, complemented with the CBC-derived lymphocyte to monocyte ratio as a prothrombotic marker, could aid in the decision of prophylactic anticoagulation therapy during admission.

Extensive Left Ventricular Thrombosis with Concomitant Pulmonary Embolism.

A 57-year-old non-obese female patient with a history of heavy smoking, chronic obstructive pulmonary disease and hypertension was admitted to the hospital as an emergency for acute hemoptysis and signs of congestive heart failure. To assess the source of hemoptysis, computed tomography (CT) pulmonary angiography was performed, which confirmed a bilateral pulmonary embolism of the apical branches. The routinely performed transthoracic echocardiography (TTE) revealed an enlarged left ventricle with severely reduced ejection fraction (EF = 25%) due to global hypokinesia and multiple, mobile, echogenic masses. To increase the diagnostic accuracy, real-time three-dimensional (Live 3D) imaging of the masses was added which described multiple left ventricular (LV) thrombi. Successful resolution of intraventricular thrombi was noticed after treatment with oral anticoagulant therapy (acenocumarol), despite the lack of regular INR control.

Increase of Short-Term Heart Rate Variability Induced by Blood Pressure Measurements during Ambulatory Blood Pressure Monitoring.

Objective. The possible effect of blood pressure measurements per se on heart rate variability (HRV) was studied in the setting of concomitant ambulatory blood pressure monitoring (ABPM) and Holter ECG monitoring (HM). Methods. In 25 hypertensive patients (14 women and 11 men, mean age: 58.1 years), 24-hour combined ABPM and HM were performed. For every blood pressure measurement, 2-minute ECG segments (before, during, and after measurement) were analyzed to obtain time domain parameters of HRV: SDNN and rMSSD. Mean of normal RR intervals (MNN), SDNN/MNN, and rMSSD/MNN were calculated, too. Parameter variations related to blood pressure measurements were analyzed using one-way ANOVA with multiple comparisons. Results. 2281 measurements (1518 during the day and 763 during the night) were included in the analysis. Both SDNN and SDNN/MNN had a constant (the same for 24-hour, daytime, and nighttime values) and significant change related to blood pressure measurements: an increase during measurements and a decrease after them (p < 0.01 for any variation). Conclusion. In the setting of combined ABPM and HM, the blood pressure measurement itself produces an increase in short-term heart rate variability. Clarifying the physiological basis and the possible clinical value of this phenomenon needs further studies.

Can Ambulatory Blood Pressure Variability Contribute to Individual Cardiovascular Risk Stratification?

Objective. The aim of this study is to define the normal range for average real variability (ARV) and to establish whether it can be considered as an additional cardiovascular risk factor. Methods. In this observational study, 110 treated hypertensive patients were included and admitted for antihypertensive treatment adjustment. Circadian blood pressure was recorded with validated devices. Blood pressure variability (BPV) was assessed according to the ARV definition. Based on their variability, patients were classified into low, medium, and high variability groups using the fuzzy c-means algorithm. To assess cardiovascular risk, blood samples were collected. Characteristics of the groups were compared by ANOVA tests. Results. Low variability was defined as ARV below 9.8 mmHg (32 patients), medium as 9.8-12.8 mmHg (48 patients), and high variability above 12.8 mmHg (30 patients). Mean systolic blood pressure was 131.2 ± 16.7, 135.0 ± 12.1, and 141.5 ± 11.4 mmHg in the low, medium, and high variability groups, respectively (p = 0.0113). Glomerular filtration rate was 78.6 ± 29.3, 74.8 ± 26.4, and 62.7 ± 23.2 mL/min/1.73 m(2) in the low, medium, and high variability groups, respectively (p = 0.0261). Conclusion. Increased values of average real variability represent an additional cardiovascular risk factor. Therefore, reducing BP variability might be as important as achieving optimal BP levels, but there is need for further studies to define a widely acceptable threshold value.

Ambulatory monitoring derived blood pressure variability and cardiovascular risk factors in elderly hypertensive patients.

Hypertension in the elderly is characterized by isolated systolic hypertension and high variability, but its clinical significance is not yet fully understood. The goal of this paper was to assess circadian blood pressure variability (BPV) in elderly hypertensives, and to determine its relationship to cardiovascular risk factors. To achieve this goal, a number of 75 inefficiently treated hypertensive patients were studied, 45 elderly, aged over 60 years, 30 middle-aged, younger than 60 years. After 24-hour ambulatory blood pressure monitoring (ABPM), blood pressure (BP) values, pulse pressure (PP), morning surge were compared between the groups. BPV was calculated using average real variability (ARV). The relationships between BPV, pulse pressure, left ventricular mass index (LVMI), and cardiovascular risk factors were assessed in both groups. As a result, it was found that left ventricular mass (p=0.01), PP, morning surge, 24-hour systolic ARV were significantly higher in the elderly group (p<0.05). In both groups, higher 24-hour BPV was associated with an increase in LVMI. In the elderly population 24-hour BPV was positively correlated to increased PP, total cholesterol and triglyceride levels (p<0.05). Moreover, it was concluded that ABPM-derived BP variability index could be an early predictive marker of end-organ damage in hypertension. Its reduction might be an important objective of hypertension management in elderly.