New methods in laboratory diagnostics of dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is a multifactorial heart disease in which there is enlargement and systolic dysfunction of one or both ventricles. The exhaustion of compensatory mechanisms leads to symptoms of congestive heart failure, which is a significant problem in contemporary cardiology. DCM is still diagnosed using clinical assessment; echocardiography is necessary, and in some clinical situations we need hemodynamic assessment in order to identify the etiology and progression of heart disease. These tests are necessary for choice of treatment and qualification for heart transplant. Investigators are looking for new, valuable, additional parameters which could be of use in screening and heart disease progression assessment, and which may be helpful in the management and risk stratification of patients with DCM. These monitoring and prognostic tools in patients with chronic heart failure can be biomarkers, such as natriuretic peptides: BNP and NT-proBNP, cardiac troponins or inflammatory cytokines and their receptors. Moreover, there are ongoing research projects concerning persistently elevated uric acid, Ca-125 and osteopontin concentrations for the identification of patients with DCM, as well as adverse prognoses

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

A case of pregnant patient with stenotic bicuspid aortic valve

Key Clinical Message Asymptomatic severe aortic stenosis (AS) during pregnancy remains challenging; however, the postponement of surgery with the possibility of valvuloplasty as a bridge therapy seems reasonable. Our case showed that despite physiological changes during pregnancy, the aortic valve defect did not worsen, which allowed us to avoid dilemmas related to anticoagulation on artificial valve. Abstract A 31‐year‐old woman, with a bicuspid aortic aorta, post‐aortic valvulotomy, was listed for cardiac surgery because of severe aortic stenosis. However, the operation was postponed due to procreation plans. During the pregnancy and delivery, we did not observe neither deterioration of symptoms nor changes of echocardiographic parameters. Subsequent monthly echocardiographic studies did not reveal a significant increase of peak and mean aortic gradient. Presented case reports showed that despite physiological changes associated with pregnancy, the aortic valve defect did not worsen, which allowed to avoid dilemmas related to anticoagulation on artificial valves

Assessment of antihypertensive treatment and risk factors for rehospitalizations of patients with primary arterial hypertension hospitalized for cardiac reasons

  Wstęp. Celem niniejszej pracy jest porównanie i ocena wyników leczenia hipotensyjnego pacjentów z pierwotnym nadciśnieniem tętniczym oraz identyfikacja czynników ryzyka ponownej hospitalizacji z przyczyn sercowo-naczyniowych w tej grupie chorych. Materiał i metody. Do badania obserwacyjnego włączono 299 osób (206 kobiet i 93 mężczyzn) z rozpoznaniem pierwotnego nadciśnienia tętniczego. Przeanalizowano dane medyczne pacjentów, w tym badania laboratoryjne, wyniki przezklatkowej echokardiografii i 24-godzinnych automatycznych pomiarów ciśnienia tętniczego. Rok po hospitalizacji przeprowadzono wywiad telefoniczny z pacjentami w celu oceny wartości ciśnienia tętniczego, farmakoterapii i zdarzeń sercowo-naczyniowych. Zebrane dane poddano analizie statystycznej. Wyniki. Pacjenci z nadwagą i dyslipidemią stanowili większość analizowanej grupy. W grupie mężczyzn średnie wartości rozkurczowego ciśnienia tętniczego były istotnie wyższe niż wśród kobiet. Porównanie wyników echokardiografii przezklatkowej wykazało, że kobiety miały istotnie wyższe wartości prędkości maksymalnej przedsionkowej fali napływu mitralnego (fala A) i stosunku prędkości maksymalnych wczesnorozkurczowej fali napływu mitralnego oraz wczesnorozkurczowej fazy ruchu pierścienia mitralnego (E/E’). Po roku od hospitalizacji większość pacjentów stosowała się do zaleceń i uzyskała średnie wartości ciśnienia tętniczego &lt; 140/90 mm Hg. Aż 18,7% pacjentów wymagało rehospitalizacji z przyczyn sercowo-naczyniowych w ciągu rocznej obserwacji. Wnioski. Farmakoterapia hipotensyjna w badanej populacji różniła się od zaleceń zawartych w wytycznych ESC/ESH dotyczących postępowania w nadciśnieniu tętniczym. Podwyższone parametry echokardiograficzne dysfunkcji rozkurczowej lewej komory były związane z gorszymi wynikami leczenia hipotensyjnego. Wiek i ciśnienie tętnicze poniżej 120/70 mm Hg zwiększały ryzyko rehospitalizacji w badanej populacji. nadciśnienie tętnicze, dysfunkcja rozkurczowa, farmakoterapia, rehospitalizacjeIntroduction. The aim of this study is comparison and evaluation of the results of antihypertensive treatment in patients with primary arterial hypertension and identification of risk factors for cardiovascular rehospitalisation in this group of patients. Material and methods. 299 people (206 women and 93 men) diagnosed with primary arterial hypertension were included in the observational study. Patients’ medical data was analyzed, including laboratory tests, transthoracic echocardiography, and 24-hour automatic blood pressure measurements. One year after hospitalization, the patients were interviewed by phone to assess blood pressure, pharmacotherapy, and cardiovascular events. The collected data was analyzed statistically. Results. Overweight and dyslipidemic patients constituted the majority of the analyzed group. In the group of men, mean diastolic blood pressure values were significantly higher than in women. A comparison of the results of transthoracic echocardiography showed that women had significantly higher values of A wave and the E/E’ ratio. One year after hospitalization, most of the patients complied with the recommendations and achieved mean blood pressure values < 140/90 mm Hg. As many as 18.7% of patients required rehospitalization for cardiovascular reasons within one year of follow-up. Conclusions. The antihypertensive drug therapy in the study population differed from the recommendations in the European Society of Cardiology/European Society of Hypertension guidelines for the management of hypertension. Increased echocardiographic parameters of left ventricular diastolic dysfunction were associated with worse outcomes of antihypertensive treatment. Age and blood pressure below 120/70 mm Hg increased the risk of rehospitalization in the study population

Nutraceutical approaches to non-alcoholic fatty liver disease (NAFLD): A position paper from the International Lipid Expert Panel (ILEP)

Non-Alcoholic Fatty Liver Disease (NAFLD) is a common condition affecting around 10–25% of the general adult population, 15% of children, and even > 50% of individuals who have type 2 diabetes mellitus. It is a major cause of liver-related morbidity, and cardiovascular (CV) mortality is a common cause of death. In addition to being the initial step of irreversible alterations of the liver parenchyma causing cirrhosis, about 1/6 of those who develop NASH are at risk also developing CV disease (CVD). More recently the acronym MAFLD (Metabolic Associated Fatty Liver Disease) has been preferred by many European and US specialists, providing a clearer message on the metabolic etiology of the disease. The suggestions for the management of NAFLD are like those recommended by guidelines for CVD prevention. In this context, the general approach is to prescribe physical activity and dietary changes the effect weight loss. Lifestyle change in the NAFLD patient has been supplemented in some by the use of nutraceuticals, but the evidence based for these remains uncertain. The aim of this Position Paper was to summarize the clinical evidence relating to the effect of nutraceuticals on NAFLD-related parameters. Our reading of the data is that whilst many nutraceuticals have been studied in relation to NAFLD, none have sufficient evidence to recommend their routine use; robust trials are required to appropriately address efficacy and safety