Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolaemia: An expert consensus statement from ERKNet and ESPN.

Homozygous familial hypercholesterolaemia is a life-threatening genetic condition, which causes extremely elevated LDL-C levels and atherosclerotic cardiovascular disease very early in life. It is vital to start effective lipid-lowering treatment from diagnosis onwards. Even with dietary and current multimodal pharmaceutical lipid-lowering therapies, LDL-C treatment goals cannot be achieved in many children. Lipoprotein apheresis is an extracorporeal lipid-lowering treatment, which is used for decades, lowering serum LDL-C levels by more than 70% directly after the treatment. Data on the use of lipoprotein apheresis in children with homozygous familial hypercholesterolaemia mainly consists of case-reports and case-series, precluding strong evidence-based guidelines. We present a consensus statement on lipoprotein apheresis in children based on the current available evidence and opinions from experts in lipoprotein apheresis from over the world. It comprises practical statements regarding the indication, methods, treatment goals and follow-up of lipoprotein apheresis in children with homozygous familial hypercholesterolaemia and on the role of lipoprotein(a) and liver transplantation.

Misperceptions and management of LDL-cholesterol in secondary prevention of patients with familial hypercholesterolemia in cardiology practice: Real-life evidence from the EPHESUS registry.

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common inherited disease, leading to premature atherosclerotic cardiovascular disease (ASCVD) due to elevated low-density lipoprotein cholesterol (LDL-C) levels. Achieving LDL-C goals is extremely important for preventing the complications of this fatal disease. We evaluated the management of FH patients with ASCVD in cardiology practice. METHODS: We analyzed patients with ASCVD from the nationwide EPHESUS registry, which was conducted in 40 cardiology outpatient clinics, and compared those with and without FH. RESULTS: Of the 1482 consecutively enrolled patients with ASCVD, 618 (41.7%) had FH, among which 455 were categorized as 'Possible FH' and 163 as 'Probable or Definite FH'. Proposed LDL-C goals were not attained in more than 90% of the patients with FH. The proportion of those on statin therapy was 77% for possible and 91% for probable or definite FH, whereas 34.2 % and 59.4% were in use of high-intensity statins, respectively. None of the patients were on PCSK-9 inhibitors, and only 2 used ezetimibe. Adverse media coverage was the most common cause of statin discontinuation (32.5% in 'possible FH' and 45.7% in 'probable/definite FH'). The negative impact of media in the decision to stop lipid lowering therapy (LLT) was increasing with education level. CONCLUSIONS: In real life most of the FH patients with ASCVD are undertreated in cardiology practice regarding statin dosing and combined LLT. Drug discontinuation rates are notably high and are mostly media-related, and side effects very rarely cause cessation of LLT. Urgent measures are needed to increase the awareness of FH among healthcare providers and patients and to develop improved treatment strategies aimed at preventing the complications of FH.

Clinical practice recommendations on lipoprotein apheresis for children with homozygous familial hypercholesterolemia: an expert consensus statement from ERKNet and ESPN.

Homozygous familial hypercholesterolaemia is a life-threatening genetic condition, which causes extremely elevated LDL-C levels and atherosclerotic cardiovascular disease very early in life. It is vital to start effective lipid-lowering treatment from diagnosis onwards. Even with dietary and current multimodal pharmaceutical lipid-lowering therapies, LDL-C treatment goals cannot be achieved in many children. Lipoprotein apheresis is an extracorporeal lipid-lowering treatment, which is well established since three decades, lowering serum LDL-C levels by more than 70% per session. Data on the use of lipoprotein apheresis in children with homozygous familial hypercholesterolaemia mainly consists of case-reports and case-series, precluding strong evidence-based guidelines. We present a consensus statement on lipoprotein apheresis in children based on the current available evidence and opinions from experts in lipoprotein apheresis from over the world. It comprises practical statements regarding the indication, methods, treatment targets and follow-up of lipoprotein apheresis in children with homozygous familial hypercholesterolaemia and on the role of lipoprotein(a) and liver transplantation.

Long-Term Natural Course of Patients with Pulmonary Artery Pressures in the Range of 21-24 mmHg: Insights from a Single-Center Study.

OBJECTIVE: Slightly elevated mean pulmonary artery pressure (mPAP) was previously termed as ''borderline pulmonary hypertension (PH)''. We examined the long-term prognosis of patients with mPAP values between 21 and 24 mmHg, who were referred with the suspicion of pulmonary hypertension. METHODS: Our retrospective study included patients with moderate-to-high echocardiographic risk who underwent right heart catheterization (RHC) between 2008 and 2021 and were followed for at least 1 year. Patients with mPAP <21 mmHg and mPAP 21-24 mmHg were compared. Demographic and clinical characteristics and prognoses of the groups were compared. All-cause mortality over a mean follow-up of 5 years (min 1-max 13 years) was evaluated. RESULTS: A total of 140 patients (mean age 53.1 ± 14.8 years, female 74.5%) with mPAP values <25 mmHg measured of the 395 diagnostic RHCs. Mean follow-up was 4.92 ± 3.13 years. NT-pro-BNP and 6-min walking distance were better in patients with mPAP <21 mmHg. Echocardiographic findings suggestive of PH were more common in mPAP 21-24 mmHg group (P < 0.05). Both the pulmonary artery wedge pressure and cardiac index values were significantly deteriorated in individuals with mPAP 21-24 mmHg (P = 0.001). All-cause mortality tended to be higher in the borderline PH group but did not reach to statistical significance. CONCLUSION: Our single-center observational study revealed that the individuals with an mPAP of 21-24 mmHg tended to have a worser prognosis than those with mPAP of <21 mmHg for up to 13-year follow-up.

Could Heart Rate Variability Serve as a Prognostic Factor in Patients with Pulmonary Hypertension? A Single-center Pilot Study.

OBJECTIVE: Heart rate variability (HRV), which is defined as cyclic changes in sinus rate with time, is used as a measure of cardiac autonomic tone. Our aim was to determine the impact of HRV on short-term prognosis in pulmonary hypertension (PH). METHODS: We enrolled 64 PH patients and 69 healthy subjects (control group). Patients were evaluated by Holter-ECG, echocardiography, and laboratory tests. 24-h Holter-ECG monitoring was used for HRV. The development of adverse events (right heart failure, hospitalization, syncope, and death) during the 6-month follow-up was evaluated in PH group. RESULTS: PH group (39 ± 16 years, 37.5% males) comprised of 16 patients with idiopathic pulmonary arterial hypertension (PAH) (25%), 36 patients with PAH associated with congenital heart disease (56.3%), 3 PAH associated with connective tissue disease (4.7%), 1 with portopulmonary (1.6%), and 8 chronic thromboembolic PH (12.5%). The time-dependent (standard deviation of all NN intervals for a selected time period [SDNN], standard deviation of the 5-min mean R-R intervals tabulated over an entire day [SDANN], SDNN Index, and Triangular Index) and frequency-dependent HRV indices (low frequency, high-frequency power, and total power,) were significantly reduced in those with PH. Functional class was negatively associated with SDNN, SDANN, SDNN Index, and Triangular Index. Adverse events developed in 25% of the patients during the 6-month follow-up period (200 ± 92 days) (7 patients had right-heart failure, 5 syncope, 12 patients were hospitalized, and 9 had died). All the time and frequency-dependent indices significantly associated with adverse events. Mortality correlated with SDNN (rS = -0.354, P = 0.005), SDANN (rS = -0.368, P = 0.004), SDNN Index (rS = -0.257, P = 0.045), Triangular Index (rS = -0.310, P = 0.014), and VLF (rS = -0.265, P = 0.039). CONCLUSION: HRV is significantly depressed in patients with PH and is associated with the clinical status. HRV indices might predict clinical deterioration, adverse events, and mortality for 6 months. Non-invasive assessment of HRV through Holter-ECG may be a valuable and practical tool in risk stratification of patients with PH for short-term outcomes.

Women, lipids, and atherosclerotic cardiovascular disease: a call to action from the European Atherosclerosis Society.

Cardiovascular disease is the leading cause of death in women and men globally, with most due to atherosclerotic cardiovascular disease (ASCVD). Despite progress during the last 30 years, ASCVD mortality is now increasing, with the fastest relative increase in middle-aged women. Missed or delayed diagnosis and undertreatment do not fully explain this burden of disease. Sex-specific factors, such as hypertensive disorders of pregnancy, premature menopause (especially primary ovarian insufficiency), and polycystic ovary syndrome are also relevant, with good evidence that these are associated with greater cardiovascular risk. This position statement from the European Atherosclerosis Society focuses on these factors, as well as sex-specific effects on lipids, including lipoprotein(a), over the life course in women which impact ASCVD risk. Women are also disproportionately impacted (in relative terms) by diabetes, chronic kidney disease, and auto-immune inflammatory disease. All these effects are compounded by sociocultural components related to gender. This panel stresses the need to identify and treat modifiable cardiovascular risk factors earlier in women, especially for those at risk due to sex-specific conditions, to reduce the unacceptably high burden of ASCVD in women.

Long-term efficacy and safety of lerodalcibep in heterozygous familial hypercholesterolaemia: the LIBerate-HeFH trial.

BACKGROUND AND AIMS: Lerodalcibep, a novel small recombinant fusion protein of a proprotein convertase subtilisin/kexin type 9 gene-binding domain (adnectin) and human serum albumin, demonstrated highly effective low-density lipoprotein cholesterol (LDL-C) reduction with monthly 300 mg in 1.2 mL subcutaneous dosing in Phase 2. In this global Phase 3 trial, the safety and efficacy of lerodalcibep were evaluated in heterozygous familial hypercholesterolaemia patients requiring additional LDL-C lowering. METHODS: Patients were randomized 2:1 to monthly subcutaneous injections of either lerodalcibep 300 mg or placebo for 24 weeks. The primary efficacy endpoints were the per cent change from baseline in LDL-C at Week 24 and the mean of Weeks 22 and 24. RESULTS: In 478 randomized subjects [mean age (range); 53 (18-80) years, 51.7% female, mean (SD) baseline LDL-C 3.88 (1.66) mmol/L], lerodalcibep reduced LDL-C, compared with placebo by an absolute amount of 2.08 (0.11) mmol/L [LS mean (SE); 95% confidence interval -2.30 to -1.87] with a percentage difference of -58.61 (3.25)% at Week 24 and by 2.28 (0.10) mmol/L (95% confidence interval -2.47 to -2.09) with a percentage difference of -65.0 (2.87)% at the mean of Weeks 22 and 24 (P < .0001 for all). With lerodalcibep, 68% of subjects achieved both a reduction in LDL-C ≥ 50% and the recommended European Society of Cardiology LDL-C targets during the study. Except for mild injection site reactions, treatment-emergent adverse events were similar between lerodalcibep and placebo. CONCLUSIONS: Lerodalcibep, a novel anti-proprotein convertase subtilisin/kexin type 9 gene small binding protein dosed monthly as an alternative to monoclonal antibodies, significantly reduced LDL-C in subjects with heterozygous familial hypercholesterolaemia with a safety profile similar to placebo.

Cardiovascular outcomes in breast cancer survivors: a systematic review and meta-analysis.

AIMS: It is unclear whether the future risk of cardiovascular events in breast cancer (Bc) survivors is greater than in the general population. This meta-analysis quantifies the risk of cardiovascular disease development in Bc patients, compared to the risk in a general matched cancer-free population, and reports the incidence of cardiovascular events in patients with Bc. METHODS AND RESULTS: We searched PubMed, Scopus, and Web of Science databases (up to 23 March 2022) for observational studies and post hoc analyses of randomized controlled trials. Cardiovascular death, heart failure (HF), atrial fibrillation (AF), coronary artery disease (CAD), myocardial infarction (MI), and stroke were the individual endpoints for our meta-analysis. We pooled incidence rates (IRs) and risk in hazard ratios (HRs), using random-effects meta-analyses. Heterogeneity was reported through the I2 statistic, and publication bias was examined using funnel plots and Egger's test in the meta-analysis of risk. One hundred and forty-two studies were identified in total, 26 (836 301 patients) relevant to the relative risk and 116 (2 111 882 patients) relevant to IRs. Compared to matched cancer-free controls, Bc patients had higher risk for cardiovascular death within 5 years of cancer diagnosis [HR = 1.09; 95% confidence interval (CI): 1.07, 1.11], HF within 10 years (HR = 1.21; 95% CI: 1.1, 1.33), and AF within 3 years (HR = 1.13; 95% CI: 1.05, 1.21). The pooled IR for cardiovascular death was 1.73 (95% CI 1.18, 2.53), 4.44 (95% CI 3.33, 5.92) for HF, 4.29 (95% CI 3.09, 5.94) for CAD, 1.98 (95% CI 1.24, 3.16) for MI, 4.33 (95% CI 2.97, 6.30) for stroke of any type, and 2.64 (95% CI 2.97, 6.30) for ischaemic stroke. CONCLUSION: Breast cancer exposure was associated with the increased risk for cardiovascular death, HF, and AF. The pooled incidence for cardiovascular endpoints varied depending on population characteristics and endpoint studied. REGISTRATION: CRD42022298741.

This work investigated the absolute and relative risk of cardiovascular outcomes in breast cancer survivors. Breast cancer was associated with a higher risk of cardiovascular death, heart failure (HF), and atrial fibrillation when compared to the general population.The incidence for cardiovascular death, HF, and coronary artery disease were 1.73, 4.44, and 4.29 per 1000 person-years, respectively.Clinicians should carefully assess breast cancer survivors for their cardiovascular risk factor profile and monitor their cardiovascular function.

Could Impedance Cardiography be a Non-Invasive Alternative Method of Measuring Cardiac Output in Patients with Pulmonary Hypertension?

BACKGROUND: Pulmonary hypertension guidelines recommend invasive right heart catheterization for diagnosis and clinical follow-up. Our aim was to compare non-invasive impedance cardiography with invasive techniques for cardiac index measurements and mortality prediction in patients with pulmonary hypertension. METHODS: Between 2008 and 2018, 284 right heart catheterizations were performed for the diagnosis of pulmonary hypertension in 215 patients with mean pulmonary artery pressure >25 mm Hg, and at least 2 methods used for cardiac output measurement were included in the study retrospectively. Patients were evaluated with Pearson's correlation in 3 groups: estimated Fick (eFick) method and thermodilution (group 1), eFick method and impedance cardiography (group 2), and thermodilution and impedance cardiography (group 3). We also compared the predictive power of cardiac index measured by different methods for 1-year overall mortality and hospitalizations. RESULTS: There were strong and moderate positive correlations in groups 1 and 3, respectively (r = 0.634, P <.001, r = 0.534, P =.001), and the weakest correlation was in group 2 (r = 0.390, P =.001). The mean difference (bias) between eFick method versus impedance cardiography, impedance cardiography vs. thermodilution, and eFick method vs. thermodilution was 0.6 mL/min, 0.47 mL/min, and -0.2 mL/min respectively, but limits of agreement were wide. In both groups, cardiac index <2.5 L/min/m2 as measured by thermodilution significantly predicted 1-year mortality. Also, impedance cardiography was better than eFick method in predicting mortality (P =.02). CONCLUSIONS: Our single-center real-life data showed that for cardiac output and cardiac index measurements, impedance cardiography provides a moderate correlation with thermodilution and is fair with eFick method methods. Moreover, thermodilution appeared superior to both eFick method and impedance cardiography, while impedance cardiography was even better than eFick method in predicting 1-year adverse events, including total mortality and hospitalization, in patients with pulmonary hypertension.

2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.

This 2023 statement updates clinical guidance for homozygous familial hypercholesterolaemia (HoFH), explains the genetic complexity, and provides pragmatic recommendations to address inequities in HoFH care worldwide. Key strengths include updated criteria for the clinical diagnosis of HoFH and the recommendation to prioritize phenotypic features over genotype. Thus, a low-density lipoprotein cholesterol (LDL-C) >10 mmol/L (>400 mg/dL) is suggestive of HoFH and warrants further evaluation. The statement also provides state-of-the art discussion and guidance to clinicians for interpreting the results of genetic testing and for family planning and pregnancy. Therapeutic decisions are based on the LDL-C level. Combination LDL-C-lowering therapy-both pharmacologic intervention and lipoprotein apheresis (LA)-is foundational. Addition of novel, efficacious therapies (i.e. inhibitors of proprotein convertase subtilisin/kexin type 9, followed by evinacumab and/or lomitapide) offers potential to attain LDL-C goal or reduce the need for LA. To improve HoFH care around the world, the statement recommends the creation of national screening programmes, education to improve awareness, and management guidelines that account for the local realities of care, including access to specialist centres, treatments, and cost. This updated statement provides guidance that is crucial to early diagnosis, better care, and improved cardiovascular health for patients with HoFH worldwide.

Clinical characteristics of adult and paediatric patients with familial hypercholesterolemia: A real-life cross-sectional study from the Turkish National Database.

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is the most common cause of premature atherosclerotic cardiovascular disease (ASCVD). Türkiye is among the countries with the highest rate of ASCVD. However, no population-based study has been published so far on the prevalence of FH, demographic and clinical characteristics, burden of ASCVD, treatment compliance, and attainment of low-density lipoprotein cholesterol (LDL-C) targets. METHODS: We performed a study using the Turkish Ministry of Health's national electronic health records involving 83,063,515 citizens as of December 2021 dating back 2016. Adults fulfilling the diagnostic criteria of definite or probable FH according to the Dutch Lipid Network Criteria (DLNC), and children and adolescents fulfilling the criteria of probable FH according to the European Atherosclerosis Society (EAS) Consensus Panel report formed the study population (n = 157,790). The primary endpoint was the prevalence of FH. RESULTS: Probable or definite FH was detected in 0.63% (1 in 158) of the adults and 0.61% (1 in 164) of the total population. The proportion of adults with LDL-C levels >4.9 mmol/L (190 mg/dL) was 4.56% (1 in 22). The prevalence of FH among children and adolescents was 0.37% (1 in 270). Less than one-third of the children and adolescents, and two-thirds of young adults (aged 18-29) with FH were already diagnosed with dyslipidaemia. The proportion of adults and children and adolescents on lipid-lowering treatment (LLT) was 32.1% and 1.5%, respectively. The overall discontinuation rate of LLT was 65.8% among adults and 77.9% among children and adolescents. Almost no subjects on LLT were found to attain the target LDL-C levels. CONCLUSIONS: This nationwide study showed a very high prevalence of FH in Türkiye. Patients with FH are diagnosed late and treated sub-optimally. Whether these findings may explain the high rates of premature ASCVD in Türkiye needs further investigation. These results denote the urgent need for country-wide initiatives for early diagnosis and effective management of FH patients.

How Did the Updated 2019 European Society of Cardiology/European Atherosclerosis Society Risk Categorization for Patients with Diabetes Affect the Risk Perception and Lipid Goals? A Simulated Analysis of Real-life Data from EPHESUS Study.

BACKGROUND: The recent 2019 European Society of Cardiology/European Atherosclerosis Society practice guidelines introduced a new risk categorization for patients with diabetes. We aimed to compare the implications of the 2016 and 2019 European Society of Cardiology/European Atherosclerosis Society guidelines with regard to the lipid-lowering treatment use, low-density lipoprotein cholesterol goal attainment rates, and the estimated proportion of patients who would be at goal in an ideal setting. METHODS: Patients with diabetes were classified into 4 risk categories according to 2019 European Society of Cardiology/European Atherosclerosis Society dyslipidemia guidelines from the database of EPHESUS (cross-sectional, observational, countrywide registry of cardiology outpatient clinics) study. The use of lipid-lowering treatment and low-density lipoprotein cholesterol goal attainment rates were then compared according to previous and new guidelines. RESULTS: This analysis included a total of 873 diabetic adults. Half of the study population (53.8%) were on lipid-lowering treatment and almost one-fifth (19.1%) were on high-intensity statins. While low-density lipoprotein cholesterol goal was achieved in 19.5% and 7.5% of patients, 87.4% and 69.6% would be on target if their lipid-lowering treatment was intensified according to 2016 and 2019 European Society of Cardiology/European Atherosclerosis Society lipid guidelines, respectively. The new target <55 mg/dL could only be achieved in 2.2% and 8.1% of very high-risk primary prevention and secondary prevention patients, respectively. CONCLUSION: The control of dyslipidemia was extremely poor among patients with diabetes. The use of lipid-lowering treatment was not at the desired level, and high-intensity lipid-lowering treatment use was even lower. Our simulation model showed that the high-dose statin plus ezetimibe therapy would improve goal attainment; however, it would not be possible to get goals with this treatment in more than one-third of the patients.

Dyslipidemia prevalence in nonobese, nondiabetic patients with obstructive sleep apnea: does sex matter?

STUDY OBJECTIVES: Dyslipidemia in obstructive sleep apnea (OSA) has been attributed to confounding obesity and/or diabetes. This study aimed to examine lipid profiles in nondiabetic, nonobese patients with OSA and identify the possible effects of age and sex. METHODS: We retrospectively evaluated the lipid parameters of 3,050 adults who underwent polysomnography. A total of 2,168 patients were excluded due to obesity (body mass index ≥ 30 kg/m2), diabetes, alcoholism, untreated hypothyroidism, lipid-lowering drug use, missing sleep data, or treatment for suspected OSA. RESULTS: Of 882 patients (75% males, aged 46.8 ± 12.2 years) included in the study, 88.4% had OSA. Levels of total cholesterol (P = .003), low-density-lipoprotein (LDL) cholesterol (P = .005), non-high-density-lipoprotein (non-HDL) cholesterol (P = .001), and triglycerides (P = .007) were significantly higher in patients with OSA than in those without, whereas HDL-cholesterol levels did not differ. The proportion of patients with hypercholesterolemia and/or elevated non-HDL cholesterol (> 160 mg/dL) was significantly higher in OSA than in non-OSA. Correlation analyses by sex revealed stronger and more significant relationships between lipid parameters and apnea-hypopnea index in women than in men (r = .135, P < .001, vs r = .080, P = .043 for total cholesterol; r = .111, P < .001, vs r = .080, P = .046 for non-HDL cholesterol; r = .122, P < .001, vs r = .061, P = .107 for LDL cholesterol, respectively). In regression analysis, the rate of hypercholesterolemia increased with age (P < .001 for women and P = .031 for men); non-HDL- and LDL-cholesterol levels significantly increased with OSA severity (P = .035 and P = .023, respectively) and age (P = .004 and P = .001, respectively) in women. CONCLUSIONS: After excluding confounding obesity and diabetes, patients with OSA have an impaired lipid profile including total cholesterol, LDL cholesterol, non-HDL cholesterol, and triglycerides. A significant association between dyslipidemia and OSA severity was observed in women but not in men. CITATION: Basoglu OK, Tasbakan MS, Kayikcioglu M. Dyslipidemia prevalence in nonobese, nondiabetic patients with obstructive sleep apnea: does sex matter? J Clin Sleep Med. 2023;19(5):889-898.

Relationship Between Work Mode, Time of Admission, and Mortality in St-Segment Elevation Myocardial Infarction: Results From the TURKMI Registry.

Treatment of acute myocardial infarction has evolved steadily. However, limited studies exist regarding the effect of all innovations on mortality. We aimed to investigate the effect of time of admission and work mode on 1-year outcomes in patients presenting with ST-segment elevation myocardial infarction (STEMI). Based on the TURKMI registry, we analyzed 735 STEMI patients recruited consecutively and prospectively from 50 PCI-capable cardiology clinics within a prespecified two-week period. Centers were categorized as "on-call" and "on-duty" according to their work mode. At 1-year follow-up, all-cause mortality and cardiovascular mortality were the primary outcomes. The secondary outcome was a composite of coronary revascularization, re-infarction/stroke, and recurrent angina. One-fifth of the participants (19.5%) were treated in the on-call group. All-cause mortality (7.9 vs 10.5%, aHR: 1.16, P = .650) and cardiovascular mortality rates (6.1 vs 9.1%, aHR: 1.35, P = .413) were similar between centers' modes of work. Likewise, both groups were equally likely to undergo coronary revascularization (P = .278), re-MI/stroke (P = .280), recurrent angina (P = .175), and the composite outcome of these components (P = .482). No significant difference was observed in primary outcomes between weekend and weekday admissions. In conclusion, we observed similar outcomes between the on-call and on-duty groups among STEMI patients.

Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients.

Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic. Primary carnitine deficiency is an overlooked inherited metabolic disease causing cardiomyopathy in these patients. Oral carnitine replacement therapy could prevent primary carnitine deficiency patients from progressing to advanced heart failure and life-threatening arrhythmias. In this case report, we present an index primary carnitine deficiency case and his brother's diagnosis and successful treatment period to draw attention to primary carnitine deficiency as a treatable cause of heart failure in young adults.

Impact of the Pandemic on Gender Differences in Scientific Publication Authorship Among Turkish Adult Cardiologists.

OBJECTIVE: Despite efforts spent on promotion of gender equity in the academia, the gender gap is feared to have widened after the coronavirus disease 2019 pandemic. Herein, we aimed to compare the distribution of female authorship by Turkish adult cardiologists in journals indexed at PubMed before and after the pandemic. METHODS: In this cross-sectional study, an advanced search on PubMed (https://pubmed.ncbi.nlm.nih.gov/) was carried out based on the following criteria: "entrez date" and keywords "Turkey" and "cardiology" to identify papers that entered the online database in April-September 2019 and April-September 2020. After the study sample was determined, type of the article and details of the author list were recorded. RESULTS: Of 1318 articles screened, 708 met the inclusion criteria. Overall, 85 (12.0%) of first authors and 67 (10.0%) of senior authors were female. Females were less likely to first author original articles, editorials, case reports/series and papers with international participation (9.5%, P = .012; 33.3%, P = .045; 18.3%, P = .033; 4.8%, P = .032, respectively). A higher proportion of females were in first and corresponding author positions in original articles (73.2%, P = .032; 76.5%, P = .019, respectively), but not in other article types (all P > .05), after emergence of the pandemic. CONCLUSION: These suggest that significant gender differences exist with regard to authorships of scientific publications that were submitted by Turkish adult cardiologists. Future studies may aim to evaluate the trends across a wider time span and based on a more extensive scientific output follow-up.

Lipid Modification to Reduce Cardiovascular Risk in Secondary Prevention Patients with Special Emphasis on PCSK9 Inhibitor Requirement: An Analysis Based on Delphi Panel Approach.

OBJECTIVE: The aim of this study is to analyze the low-density lipoprotein cholesterol-lowering therapies in secondary prevention patients by analyzing their plasma low-density lipoprotein cholesterol levels, current treatment, considering their inadequate response to medications (as defined in current guidelines), and the requirement for a protein convertase subtilisin/kexin type 9 inhibitor. METHODS: Delphi panel is used to seek expert consensus of experienced 12 cardiologists. A questionnaire consisting of 6 main questions is used to reflect the opinion of the expert panelists on the practices of low-density lipoprotein cholesterol-lowering therapies of patients with high and very high cardiovascular risk. Patients with atherosclerotic cardiovascular disease are covered in this present analysis. RESULTS: According to expert opinion data, 18.6% of the patient population with atherosclerotic cardiovascular disease is estimated to have experienced recurrent vascular events. The current treatment of the patient population is 39.7% on high dose, 36.9% on low/moderate dose of statin, 13.1% on maximum tolerated dose statin+ezetimibe, and 1.2% on maximum tolerated dose statin+ezetimibe+protein convertase subtilisin/kexin type 9 inhibitor. The percentage of atherosclerotic cardiovascular disease patients with inadequate treatment response is estimated to be 20.2% in those using "maximum tolerated dose statin+ezetimibe." The proportion of patients who will need to be treated with a protein convertase subtilisin/kexin type 9 inhibitor increases as their low-density lipoprotein cholesterol levels rises from 9.1% in 70-99 mg/dL to 50.8% in ≥160 mg/dL for these patients. CONCLUSION: According to expert opinion, although a substantial proportion of patients with secondary prevention have not achieved low-density lipoprotein cholesterol goals, the use of protein convertase subtilisin/kexin type 9 inhibitors is very low. Since the questionnaire subject to panel discussion did not include any question elaborating the issue, the discrepancy between the recommendation of the related guidelines and Turkish practice needs further studies for the explanation.

Evaluation of the Effectiveness of Individually Tailored Lifestyle Intervention in Patients With Familial Hypercholesterolemia.

OBJECTIVES: The aim of this study was to evaluate the effect of a theoretically-based individually tailored lifestyle intervention on healthy lifestyle changes and improvement in disease management in patients with familial hypercholesterolemia (FH). METHODS: In this randomized controlled clinical trial, 120 patients with FH were randomly assigned (1:1) to receive education and counseling based upon the Transtheoretical Model of Health Behavioral Change (n = 60) or conventional clinical education (n = 60). All patients were evaluated for healthy lifestyle changes, adherence to therapy, lipid levels, blood pressure, body mass index, and waist measurement at baseline and at 12th and 24th weeks' visits. RESULTS: Motivational interviews resulted in a significant improvement in healthy lifestyle changes and treatment adherence in the intervention group. In addition, there were significant decreases in body mass index (-7.49%), low-density lipoprotein cholesterol (-37.14%), and blood pressure (13.3%) in the intervention group. CONCLUSIONS: Our results showed that an individually tailored lifestyle intervention was effective in facilitating healthy lifestyle changes and improvement in treatment adherence and in decreasing cardiovascular risk factors including cholesterol levels in patients with FH.