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.

The effects of short term statin treatment on left ventricular function and inflammatory markers in patients with chronic heart failure.

BACKGROUND: Statins may provide additional benefits in patients with cardiac failure due to their pleiotropic effects besides their cholesterol-lowering actions. In this study, we aimed to evaluate the impact of 12-week fluvastatin therapy on the inflammatory cytokines and the ventricular performance markers in patients with heart failure. METHODS AND RESULTS: Fourty chronic heart failure patients, twenty with idiopathic dilated cardiomyopathy (DCM group) and 20 with ischemic cardiomyopathy (ICM group), for whom statin treatment was indicated according to Adult Treatment Panel III were included to this open label and prospective study. After a 12-week treatment with fluvastatin 80 mg/day; clinical functional capacity, echocardiographic indices of cardiac performance and inflammatory markers were evaluated. After the treatment, functional capacity (in DCM group: 2.05+/-0.4 versus 1.65+/-0.6, p=0.005; in ICM group: 2.25+/-0.5 versus 1.8+/-0.6, p=0.003), left ventricular ejection fraction, LVEF (from 30+/-5% to 33+/-5%, p=0.001 in DCM and 29+/-4% to 31+/-5%, p=0.001 in ICM group) and tissue Doppler mitral annular systolic velocity, Sm (5.8+/-1 cm/s to 7+/-1 cm/s, p=0.001 in DCM and 5.4+/-0.8 cm/s to 7+/-1 cm/s, p=0.001 in ICM group) improved. Tumor necrosis factor-alpha and interleukin-6 levels decreased, but no significant changes in high sensitive C-reactive protein and brain natriuretic peptide levels were detected with the fluvastatin treatment in both groups. CONCLUSION: Fluvastatin improved cardiac functions and the clinical symptoms in HF patients with either idiopathic dilated or ischemic etiology. This positive effect of fluvastatin which might be secondary to inflammatory modulation was more marked in patients with ischemic etiology. Statins in HF deserves special attention by means of further large-scale trials.

Alterations in left ventricular structure and diastolic function in professional football players: assessment by tissue Doppler imaging and left ventricular flow propagation velocity.

BACKGROUND: Long-term regular exercise is associated with physiologic and morphologic cardiac alterations. Tissue Doppler imaging (TDI) and ventricular early flow propagation velocity (Vp) are new tolls in the evaluation of myocardial function. We sought to compare TDI and Vp findings in professional football players and age-adjusted sedentary controls to assess the effect of regular athletic training on myocardial function. METHODS: Twenty-four professional football players and age-, sex-, and weight-adjusted 20 control subjects underwent standard Doppler echocardiography pulsed TDI, performed parasternal four-chamber views by placing sample volume septal and lateral side of mitral annulus and lateral tricuspid annulus. Vp values were obtained by measuring the slope delineated by first aliasing velocity from the mitral tips toward the apex by using apical four-chamber color M-mode Doppler images. RESULTS: Age, body surface area, blood pressure, and heart rate were comparable between two groups. Football players had significantly increased LV mass, mass index (due to both higher wall thickness and end-diastolic diameter), end-systolic and end-diastolic volume, left atrial diameter, and decreased transmitral diastolic late velocity. In athletes TDI analysis showed significantly increased mitral annulus septal DTI peak early diastolic (e) velocity (0.22 +/- 0.04 vs 0.19 +/- 0.04, P < 0.05), lateral DTI peak e velocity (0.19 +/- 0.03 vs 0.16 +/- 0.02, P < 0.05) and lateral DTI e/a peak velocity ratio (1.96 +/- 0.41 and 1.66 +/- 0.23, P < 0.05). The ratio of transmitral peak early diastolic velocity (E) to e in both lateral (4.72 +/- 1.20 vs 5.95 +/- 1.38, P = 0.007) and septal (3.90 +/- 0.80 vs 5.25 +/- 1.50, P = 0.002) side of mitral annulus were significantly lower in athletes. In Vp evaluation, we found higher Vp values (60.52 +/- 6.95 in athletes and 56.56 +/- 4.24 in controls, P = 0.03) in football players. CONCLUSIONS: Professional football playing is associated with morphologic alteration in left ventricle and left atrium and improvement in left ventricle diastolic function that can be detected by TDI and Vp. These techniques may be new tools to define and quantitate the degree of LV diastolic adaptations to endurance exercise.

Homozygous factor V Leiden mutation in two siblings presenting with acute myocardial infarction: a rare cause of myocardial infarction in the young.

Although factor V Leiden mutation, is the most common established genetic risk factor for venous thrombosis, its effect on the development of myocardial infarction remains unclear. We describe a family case of homozygous factor V Leiden mutation in two siblings presenting with acute myocardial infarction as a rare cause of myocardial infarction in the young.

Isotretinoin (13-cis-retinoic acid) associated atrial tachycardia.

We describe a 16-year-old boy who presented with palpitations for 1 week while being on isotretinoin treatment for nodulocystic facial acne for 3 months. Twenty four-hour Holter monitoring showed frequent premature atrial beats and episodes of nonsustained atrial tachycardia. He never had any episodes of palpitations previously. His complaints almost disappeared within a week after stopping the treatment. He remained asymptomatic since the discontinuation of the drug. The temporal relationship between isotretinoin treatment and patient's symptoms in the presence of documented arrhythmia suggests a drug-related cause. As a result, clinicians should be aware of the possible arrhythmogenic effect of isotretinoin.