What have we learned from Turkish familial hypercholesterolemia registries (A-HIT1 and A-HIT2)?

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2). METHODS: A-HIT1 is a survey of homozygous FH patients undergoing low density lipoprotein (LDL) apheresis (LA). A-HIT2 is a registry of adult FH patients (homozygous and heterozygous) admitted to outpatient clinics. Both registries used clinical diagnosis of FH. RESULTS: A-HIT1 evaluated 88 patients (27 ±â€¯11 years, 41 women) in 19 centers. All patients were receiving regular LA. There was a 7.37 ±â€¯7.1-year delay between diagnosis and initiation of LA. LDL-cholesterol levels reached the target only in 5 cases. Mean frequency of apheresis sessions was 19 ±â€¯13 days. None of the centers had a standardized approach for LA. Mean frequency of apheresis sessions was every 19 ±â€¯13 (7-90) days. Only 2 centers were aware of the target LDL levels. A-HIT2 enrolled 1071 FH patients (53 ±â€¯8 years, 606 women) from 31 outpatients clinics specialized in cardiology (27), internal medicine (1), and endocrinology (3); 96.4% were heterozygous. 459 patients were on statin treatment. LDL targets were attained in 23 patients (2.1% of the whole population, 5% receiving statin) on treatment. However, 66% of statin-receiving patients were on intense doses of statins. Awareness of FH was 9.5% in the whole patient population. CONCLUSIONS: The first nationwide FH registries revealed that FH is still undertreated even in specialized centers in Turkey. Additional effective treatment regiments are urgently needed.

[Polypharmacy and drug interactions in elderly patients]. / Yasli hastalarda polifarmasi ve ilaç etkilesimi.

Although the definition of polypharmacy is not yet clear today, it is generally regarded as drug use more than the patient needs. Advanced age is the most important risk factor for polypharmacy. In addition, other risk factors are loss of current cognitive functions, low socioeconomic level and nursing care. It is seen in about 40% of people over 75 years of age worldwide, varying between countries of extreme poverty. Incorrect drug use, drug side effects and drug-drug interaction lead to unwanted hospitalizations. In particular, cardiovascular drugs pose risks in terms of drug side effects in advanced ages. Altering the pharmacokinetics and pharmacodynamics of the drug along with advanced age lead to more frequent side effects or no effect of the drugs. The most important point to prevent polypharmacy is to inform the patient or the patient's caregiver fully and to target treatment with a minimum number of drugs and doses.

[Dyslipidaemias in elderly patients]. / Yasli hastalarda dislipidemi.

Statin use in people over 65 years of age is high. A meta-analysis of older patients included in randomised trials found good evidence that statins reduce vascular events and mortality in people with existing coronary heart disease. In older adults, exposure to higher doses of statins or higher potency statins does not increase their effectiveness, but does increase the risk of adverse effects such as myopathy and cognitive impairment. Increasing age is a risk factor for adverse events with statins. Older patients may be less resilient to these effects. Older patients may have more comorbidities and be taking more concomitant drugs than the study populations in statin trials. Applying the evidence for statins to older individuals therefore requires frequent review and consideration of the therapeutic goals and potential benefits and harms.

Type 1 neurofibromatosis complicated by pulmonary arterial hypertension: A case report.

Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may complicate the course of NF1. Presently described is a case of neurofibromatosis complicated by pulmonary hypertension.

ASSESSMENT OF DIASTOLIC DYSFUNCTION, ARTERIAL STIFFNESS, AND CAROTID INTIMA-MEDIA THICKNESS IN PATIENTS WITH ACROMEGALY.

OBJECTIVE: Early diagnosis and treatment of cardiovascular diseases, the most frequent cause of morbidity and mortality in acromegaly, may be an efficient approach to extending the lifespan of affected patients. Therefore, it is crucial to determine any cardiovascular diseases in the subclinical period. The study objectives were to determine markers of subclinical atherosclerosis and asses heart structure and function. METHODS: This was a cross-sectional, single-center study of 53 patients with acromegaly and 22 age- and sex-matched healthy individuals. Carotid intima-media thickness (CIMT), pulse-wave velocity (PWV), and echocardiographic data were compared between these groups. RESULTS: CIMT and PWV were higher in the acromegaly group than in the healthy group (P = .008 and P = .002, respectively). Echocardiography showed that left ventricular diastolic dysfunction was present in 11.3% of patients. Left ventricular mass index and left atrial volume index were higher in the patients (P = .016 and P<.001, respectively). No differences in the CIMT, PWV, or echocardiographic measurements were identified between the patients with biochemically controlled and uncontrolled acromegaly and the control group. CONCLUSION: Our results showed that subclinical atherosclerosis (i.e., CIMT and PWV markers) and heart structure and function were worse in patients with acromegaly than in healthy individuals. Because there were no differences in these parameters between patients with controlled and uncontrolled acromegaly, our results suggest that the structural and functional changes do not reverse with biochemical control. ABBREVIATIONS: AA = active acromegaly BSA = body surface area CA = biochemically controlled acromegaly CH = concentric hypertrophy CIMT = carotid intima-media thickness DBP = diastolic blood pressure DM = diabetes mellitus ECHO = echocardiography EDV = enddiastolic volume EF = ejection fraction ESV = endsystolic volume GH = growth hormone HC = healthy control HL = hyperlipidemia HT = hypertension IGF-1 = insulin-like growth factor 1 LA = left atrial LAV = left atrial volume LAVI = left atrial volume index LV = left ventricular LVDD = left ventricular diastolic dysfunction LVEF = left ventricular ejection fraction LVH = left ventricular hypertrophy LVMI = left ventricular mass index PWV = pulse-wave velocity RWT = relative wall thickness.

Pulmonary Endarterectomy For Large Vessel Pulmonary Arteritis Mimicking Chronic Thromboembolic Disease.

Takayasu's arteritis is a chronic, non-specific primary and inflammatory disease of large vessels, especially the aorta and its branches. Although pulmonary artery involvement is common, clinical signs of pulmonary artery involvement as the initial presentation is rare. Considering Takayasu's arteritis in the early diagnosis is important. In this article, we report a 23-year-old female patient of Takayasu's arteritis who was treated with successful surgery combined with medical therapy.

Evaluation of subclinical left ventricular systolic dysfunction in patients with obstructive sleep apnea by automated function imaging method; an observational study.

OBJECTIVE: We aimed to evaluate the subclinical left ventricular (LV) systolic dysfunction with the automated function imaging method (AFI) based on speckle tracking echocardiography (STE) in obstructive sleep apnea patients (OSA) with normal left ventricular ejection fraction (LVEF) and without any confounding disease that can cause myocardial dysfunction. METHODS: Twenty-one healthy individuals and 58 OSA patients were included in this observational cross-sectional study. According to the severity of disease, OSA patients were examined in three groups; mild, moderate and severe OSA. Apical 2-, 3- and 4- chamber images were obtained for AFI evaluation. The global systolic longitudinal strain (GLS) values were determined for each view, and averages of these were used in comparison of the patient groups. One-way ANOVA, Kruskal-Wallis, Pearson correlation tests and linear regression analysis were used for statistical analysis. RESULTS: The GLS values of the OSA patients were lower than of the healthy individuals and these values were decreased along with the OSA severity (Healthy:-25.58±-2.16%, Mild:-23.93±-3.96%, Moderate:-21.27±-2.60%, Severe:-16.94±-2.66%, respectively). The difference was significant between moderate OSA patients and healthy individuals, and significant between severe OSA patients and all other groups (p<0.03). The apnea-hypopnea index was found to be correlated with the GLS (ß=-0.659, 95% CI: 0.09-0.17, p<0.001). CONCLUSION: Longitudinal LV mechanics in OSA patients with normal LVEF are deteriorated in the subclinical stage being associated with the severity of disease. AFI can be used as an effective and safe method in the determination of subclinical myocardial dysfunction in OSA patients, because it is semi-automated and easy to use with a short analysis time.

Assessment of subclinical left ventricular dysfunction in obstructive sleep apnea patients with speckle tracking echocardiography.

In this study, our aim was to evaluate the LV (left ventricle) subclinical myocardial dysfunction using the two-dimensional speckle tracking echocardiography (2D-STE) method on obstructive sleep apnea (OSA) patients with preserved left ventricular ejection fraction (LVEF) and without any confounding disease that may result myocardial dysfunction. Twenty-one healthy individuals and 58 OSA patients were enrolled in the study. The patients were categorized into mild, moderate and severe OSA groups according to the apnea-hypopnea index (AHI). Conventional- and tissue Doppler echocardiography imagings were performed in all the individuals besides the 2D-STE. The longitudinal strain (S) and systolic strain rate (SR(S)) values decreased as the severity of disease increased from moderate towards severe OSA. The circumferential S and SR(S) values were observed to be lower in the severe OSA patients. Despite the increase in the radial S and SR(S) in moderate and mild OSA patients, these measurements decreased in those with severe OSA. Although the longitudinal, circumferential and radial early diastolic strain rates (SR(E)) decreased as the severity of disease increased form moderate to severe, the late diastolic strain rates (SR(A)) were observed to increase. In the early stages of OSA, longitudinal systolic LV dysfunction is detected in addition to the diastolic dysfunction. The circumferential mechanics of the LV deteriorate in the later stages of the OSA. Despite a compensatory increase in the radial LV function in the early stages of OSA, in later stages, the LV radial function also deteriorates. The assessment of the myocardial functions using the STE method in patients with OSA with preserved LVEF has the potential to detect the subclinical LV dysfunction and might provide useful information for risk stratification.

Recurrent ventricular arrhythmias and myocardial infarctions associated with cocaine induced reversible coronary vasospasm.

Cocaine has become the most frequently used illicit drug among patients presenting to emergency departments worldwide. Although acute myocardial infarction is the most common reported cardiovascular manifestation in this setting, there are many other potential cardiotoxic effects of cocaine use including coronary artery spasm, arrhythmia, and sudden death. We report the case of a 54 year-old male with angiographically documented reversible coronary arterial spasm leading to severe life-threatening recurrent ventricular arrhythmias and electrocardiographic changes suggesting acute myocardial infarction secondary to cocaine use. Recurrent ventricular arrhythmias of this patient required implantation of a cardioverter-defibrillator which successfully treated following arrhythmia episodes.