An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of HCM cases can be attributed to mutation of the MYBPC3 gene, which encodes cMyBP-C, a crucial structural protein of the cardiac muscle. The manifestation of HCM's morphological, histological, and clinical symptoms is subject to the complex interplay of various determinants, including genetic mutation and environmental factors. Approximately half of MYBPC3 mutations give rise to truncated protein products, while the remaining mutations cause insertion/deletion, frameshift, or missense mutations of single amino acids. In addition, the onset of HCM may be attributed to disturbances in the protein and transcript quality control systems, namely, the ubiquitin-proteasome system and nonsense-mediated RNA dysfunctions. The aforementioned genetic modifications, which appear to be associated with unfavorable lifelong outcomes and are largely influenced by the type of mutation, exhibit a unique array of clinical manifestations ranging from asymptomatic to arrhythmic syncope and even sudden cardiac death. Although the current understanding of the MYBPC3 mutation does not comprehensively explain the varied phenotypic manifestations witnessed in patients with HCM, patients with pathogenic MYBPC3 mutations can exhibit an array of clinical manifestations ranging from asymptomatic to advanced heart failure and sudden cardiac death, leading to a higher rate of adverse clinical outcomes. This review focuses on MYBPC3 mutation and its characteristics as a prognostic determinant for disease onset and related clinical consequences in HCM.

A Systematic Review on the Risk Modulators of Myocardial Infarction in the "Young"-Implications of Lipoprotein (a).

The presence of a myocardial infarction at a younger age is of special interest, considering the psychological and socioeconomic impact, as well as long-term morbidity and mortality. However, this group has a unique risk profile, with less traditional cardiovascular risk factors that are not well studied. This systematic review aims to evaluate traditional risk factors of myocardial infarction in the "young", highlighting the clinical implications of lipoprotein (a). We performed a comprehensive search using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) standards; we systematically searched the PubMed, EMBASE, and Science Direct Scopus databases, using the terms: "myocardial infarction", "young", "lipoprotein (a)", "low-density lipoprotein", "risk factors". The search identified 334 articles which were screened, and, at the end, 9 original research articles regarding the implications of lipoprotein (a) in myocardial infarction in the "young" were included in the qualitative synthesis. Elevated lipoprotein (a) levels were independently associated with an increased risk of coronary artery disease, especially in young patients, where this risk increased by threefold. Thus, it is recommended to measure the lipoprotein (a) levels in individuals with suspected familial hypercholesterolaemia or with premature atherosclerotic cardiovascular disease and no other identifiable risk factors, in order to identify patients who might benefit from a more intensive therapeutic approach and follow-up.

Triglyceride-Rich Lipoproteins and Their Remnants as Silent Promoters of Atherosclerotic Cardiovascular Disease and Other Metabolic Disorders: A Review.

While targeting elevated serum levels of low-density lipoprotein cholesterol has been the mainstay of atherosclerosis prevention and treatment for decades, the evidence regarding the atherogenic role of hypertriglyceridemia is still controversial. Various epidemiological population-based studies on statin-treated subjects nominated triglycerides, triglyceride-rich lipoproteins (namely, chylomicrons and very-low-density lipoprotein particles), and their remnants as major determinants of the substantial residual cardiovascular risk. With the triglyceride-glucose index and triglyceride to high-density lipoprotein ratio emerging as surrogate indicators of peripheral artery disease and atherosclerotic cerebrovascular disease, one can conclude that further research addressing the intricate relationship between triglycerides and atherosclerosis is warranted. Therefore, this review aims to provide insight into the current clinical and epidemiological state of knowledge on the relationship between triglycerides and atherosclerotic cardiovascular disease. It also intends to highlight the connection between triglycerides and other metabolic disorders, including diabetes mellitus, and the potential benefits of triglyceride-lowering agents on cardiovascular outcomes and all-cause mortality.

Cardiac Resynchronization Therapy in Non-Ischemic Cardiomyopathy: Role of Multimodality Imaging.

Non-ischemic cardiomyopathy encompasses a heterogeneous group of diseases, with a generally unfavorable long-term prognosis. Cardiac resynchronization therapy (CRT) is a useful therapeutic option for patients with symptomatic heart failure, currently recommended by all available guidelines, with outstanding benefits, especially in non-ischemic dilated cardiomyopathy. Still, in spite of clear indications based on identifying a dyssynchronous pattern on the electrocardiogram (ECG,) a great proportion of patients are non-responders. The idea that multimodality cardiac imaging can play a role in refining the selection criteria and the implant technique and help with subsequent system optimization is promising. In this regard, predictors of CRT response, such as apical rocking and septal flash have been identified. Promising new data come from studies using cardiac magnetic resonance and nuclear imaging for showcasing myocardial dyssynchrony. Still, to date, no single imaging predictor has been included in the guidelines, probably due to lack of validation in large, multicenter cohorts. This review provides an up-to-date synthesis of the latest evidence of CRT use in non-ischemic cardiomyopathy and highlights the potential additional value of multimodality imaging for improving CRT response in this population. By incorporating all these findings into our clinical practice, we can aim toward obtaining a higher proportion of responders and improve the success rate of CRT.

The Importance of Multimodality Imaging in the Diagnosis and Management of Patients with Infiltrative Cardiomyopathies: An Update.

Infiltrative cardiomyopathies (ICMs) comprise a broad spectrum of inherited and acquired conditions (mainly amyloidosis, sarcoidosis, and hemochromatosis), where the progressive buildup of abnormal substances within the myocardium results in left ventricular hypertrophy and manifests as restrictive physiology. Noninvasive multimodality imaging has gradually eliminated endomyocardial biopsy from the diagnostic workup of infiltrative cardiac deposition diseases. However, even with modern imaging techniques' widespread availability, these pathologies persist in being largely under- or misdiagnosed. Considering the advent of novel, revolutionary pharmacotherapies for cardiac amyloidosis, the archetypal example of ICM, a standardized diagnostic approach is warranted. Therefore, this review aims to emphasize the importance of contemporary cardiac imaging in identifying specific ICM and improving outcomes via the prompt initiation of a targeted treatment.

A Joinpoint Regression Analysis of Syphilis and Gonorrhea Incidence in 15-19-Year Old Adolescents between 2005 and 2017: A Regional Study.

Background and Objectives: Surveillance of syphilis and gonorrhea in Romania is case-based and makes use of European case definitions. Adolescence is a period characterized by vulnerabilities and opportunities, a period when health decisions, including those related to sexually transmitted infections, may have a lifetime impact. The present study investigates the trends recorded in the incidence of syphilis and gonorrhea in 15-19 year-old adolescents in the central and northwestern regions of Romania. Materials and Methods: An observational study was conducted and this included surveillance data for syphilis and gonorrhea in the period 2005-2017 (n = 939). The distribution of demographic and epidemiological variables in adolescents with syphilis and gonorrhea was evaluated, as well as the tendency of the incidence of syphilis and gonorrhea in the studied population. Joinpoint regression analysis was used to characterize the incidence trend for syphilis and gonorrhea. Results: Between 2005 and 2017, 773 cases of syphilis and 166 cases of gonorrhea were reported. The incidence of syphilis and gonorrhea decreased. Most cases of syphilis have been found out by active detection. Most cases of gonorrhea have been found out by passive detection. The age distribution in the group diagnosed with syphilis was similar to that in the group diagnosed with gonorrhea. There was a higher frequency of syphilis in females and gonorrhea was more common in males. Syphilis was more common in rural areas. Gonorrhea was more common in urban areas. Conclusions: There was a decreasing tendency in the incidence of syphilis and gonorrhea in adolescents aged 15-19 during the studied period.

From Classical Laboratory Parameters to Novel Biomarkers for the Diagnosis of Venous Thrombosis.

Venous thrombosis is a common and potentially fatal disease, because of its high morbidity and mortality, especially in hospitalized patients. To establish the diagnosis of venous thrombosis, in the last years, a multi-modality approach that involves not only imaging modalities but also serology has been evolving. Multiple studies have demonstrated the use of some biomarkers, such as D-dimer, selectins, microparticles or inflammatory cytokines, for the diagnosis and treatment of venous thrombosis, but there is no single biomarker available to exclusively confirm the diagnosis of venous thrombosis. Considering the fact that there are some issues surrounding the management of patients with venous thrombosis and the duration of treatment, recent studies support the idea that these biomarkers may help guide the length of appropriate anticoagulation treatment, by identifying patients at high risk of recurrence. At the same time, biomarkers may help predict thrombus evolution, potentially identifying patients that would benefit from more aggressive therapies. This review focuses on classic and novel biomarkers currently under investigation, discussing their diagnostic performance and potential benefit in guiding the therapy for venous thrombosis.

A seroprevalence study for hepatitis B virus markers of infection in pregnant women in Romania: results and opportunities for prevention.

BACKGROUND AND AIMS: The Action Plan for viral hepatites in the WHO European Region aims to eliminate them as a public health threat by the end of 2030. The hepatitis B virus (HBV) perinatal transmission is a problem of major concern. The aim of our study was to estimate the prevalence of HBV markers in pregnant women in Romania, as scientific evidence for recommending public health interventions. METHODS: The serum samples were prospectively collected in randomly selected maternities, from pregnant women admitted for birth beginning with July 1st, 2016. Signed informed consent was requested and the confidentiality of personal data was assured. The laboratory investigations were performed in two regional public health laboratories. RESULTS: The prevalence of HBsAg was 5.1%. Among HBsAg positives, the HBeAg was present in 7.4% and the anti-HBeAb were detected in 55.6% of the pregnant women. CONCLUSION: The results of the study were comparable to those in 2013 for the women of the same age group, which proves the need for established public health interventions leading to reducing, and halting HBV transmission in the population. .

[Prevalence and prediction of significant coronary artery lesions in patients with valvular heart diseases requiring surgery]. / Prevalenta si predictia leziunilor coronariene semnificative la pacientii valvulari propusi pentru înlocuire valvulara.

AIM: First to estimate the prevalence of significant coronary artery narrowings in patients suffering from valvular heart diseases requiring surgery and second to assess the parameters able to predict significant coronary stenoses in those patients. MATERIAL AND METHODS: Retrospective study of a group consisting of 92 patients (29 female, 63 male, mean age 61 +/- 7.15 years) with coronary angiography carried out before surgical valve correction. Patients having ischemia-related mitral regurgitation were excluded from the study. Significant coronary artery stenosis was defined as a luminal narrowing of an epicardial artery of at least 50%. Anginal pain and cardiovascular risk factors were ascertained therewith. RESULTS: Significant coronary artery stenoses were found in 24% of all patient enrolled in the study, their prevalence in the subgroup with aortic valve disease (alone or associated with mitral valve disease) and in the subgroup with isolated mitral valve disease being similar (31.8% vs. 21.4%, p = 0.2). The anginal chest pain, increased waist circumference and a host of at least 3 conventional cardiovascular risk factors were the elements best correlated with the presence of significant coronary narrowings. CONCLUSIONS: Both Romanian patients and patients from industrialized countries afflicted with valvular heart diseases have similar prevalence of coronary heart disease. The prevalence tends to increase in patients with abdominal obesity and in those with many risk factors, diabetes mellitus being the most frequently encountered traditional risk factor. Renal function impairment might represent a predictive marker for coronary heart disease in valvular patients.

[Postinfarction left ventricular saccular aneurysm]. / Anevrism sacular gigant al ventriculului stâng, postinfarct.

Postinfarction ventricular aneurysms may be either true or false, each with apparently definite diagnostic criteria on imaging techniques. We present the case of a 69 year-old male admitted to our hospital 6 weeks after an acute anterior myocardial infarction, for progressive exertional dyspnea. Transthoracic echocardiography demonstrated a large cystic cavity, 10 cm in diameter, communicating with the left ventricle's apex through an orifice of 5 cm diastolic diameter. The echocardiographic diagnosis was of a large, saccular aneurysm. Contrast ventriculography confirmed the existence of a large cavity connected to the apex of the left ventricle, 12 cm in diameter, with sluggish flow of contrast within it and features suggestive of pseudoaneurysm. The patient was referred for surgery because of continued symptoms and a preoperative diagnosis of either a large ventricular aneurysm or pseudoaneurysm. At the time of surgery a true aneurysm was found. We present this case because the rarity of a saccular configuration of a postinfarction left ventricular aneurysm, because of the unusual large size of it and to point on the possible disagreement between the conclusions of imaging modalities in differentiating a true from a false aneurysm.

[Extracorporeal shock wave lithotripsy (ESWL) can be done for lithiasic patients with cardiac arrhythmias with a lithotriptor without ECG triggering system--the experience of Iasi Urological Department]. / Litotritia extracorporeala la pacientii cu tulburari de ritm. Experienta Clinicii Urologice Iasi.

The recommendations for spark gap lithotripters include that the shock waves must be delivered according to the ECG, avoiding the discharge during the refractory part of the heart activity. The lithotripters we have in our department does not have from the factory an ECG correlated triggering system. Observing that ESWL for patients without heart problems did not induced arrhythmias, we decide to perform this procedure under strict cardiologic supervision to the patients having arrhythmias (chronic fibrillation, chronic atrial fibrillation, supraventricular arrhythmias, supraventricular premature beats, ventricular premature beats, ventricular tachycardia). All the ESWIL sessions did not have any major incidents and all the patients return home safe, without any changes of the cardiac medication. Even we did not notice any aggravation of the cardiac arrhythmias during ESWL we consider that the careful monitoring of the patients by the cardiologist is necessary during the procedure, most of all when the spark gap lithotripter has not an ECG triggering system.

[Histoplasmosis (infection with Histoplasma capsulatum, capsulatum variety)]. / Histoplasmoza (infectie cu Histoplasma capsulatum, var. capsulatum).

Histoplasmosis is an endemic mycosis in some regions in the US, but it can be more and more often imported to Europe. One of the clinical characters of the infection is the variety of shapes it can have, many similar to tuberculosis. It can be associated to HIV infection, being the most frequent mycosis in these patients in endemic regions. Diagnosis is based on evidence of mycotic filaments on microscopy or culture. Treatment consists of Amphotericin B and Itraconazole, the latter being also the foundation of primary and secondary prevention.