H. Ercan Tutar

Plasma endothelin-1 levels in patients with left-to-right shunt with or without pulmonary hypertension

The aim of this study was to evaluate the role of endothelin-1 (ET-1) in pathophysiology of pulmonary hypertension (PH) secondary to congenital heart disease with left-to-right shunt. Twenty-three children (12 male, 11 female) aged 0.58-13 years were enrolled the study. Blood samples were drawn from superior vena cava, right atrium, right ventricle, pulmonary artery and pulmonary wedge or pulmonary vein during cardiac catheterization. Plasma ET-1 levels were assayed by ELISA. Patients were divided into two groups according to the presence or absence of PH. Plasma ET-1 levels of the study group were compared to the peripheral venous and arterial ET-1 levels of 11 healthy infants and children (aged 0.75-13 years). Plasma ET-1 levels in patients with left-to-right shunt were found significantly higher than those of controls. However, plasma ET-1 levels were similar between the two groups of the patients. Pulmonary venous ET-1 levels were higher than the levels of superior vena cava, this suggested an increased production of ET-1 in pulmonary vascular bed in patients with PH. No correlations were found between plasma ET-1 levels and pulmonary arterial pressure, pulmonary vascular resistance and pulmonary blood flow in the patients. Plasma ET-1 levels of the patients with left-to-right shunt were increased independently from pulmonary arterial pressure and pulmonary vascular resistance. This increase was related to the production of ET-1 in pulmonary vascular bed in patients with PH. ET-1 could not be found to be directly related to the development of PH in the patients with left-to-right shunt.

Isolated recurrent pericarditis in a patient with familial Mediterranean fever.

Familial Mediterranean fever (FMF) should be kept in mind in the differential diagnosis of recurrent pericarditis and mutation analysis should be considered, especially in patients of Mediterranean origin.

Systolic and diastolic function in children with chronic renal failure

Background : Cardiovascular complications are the most frequent cause of death in patients with end‐stage renal failure (ESRF). We aimed to investigate systolic and diastolic functions in children with ESRF.

Premature thelarche in Kabuki make-up syndrome

A 2 year old girl who has Kabuki make‐up syndrome with isolated premature thelarche is presented. She has unique ocular abnormalities which have not been reported previously. In the literature at least 85 patients, most of them from Japan, have been reported. This is the first reported non‐Japanese Asian case.

Echocardiographic, morphologic, and geometric variations of the left ventricular outflow tract: possible role in the pathogenesis of discrete subaortic stenosis.

Although the clinical features and natural course of discrete subaortic stenosis (DSS) are well defined, the etiology remains speculative. The purpose of this study was to identify the echocardiographic, morphologic, and geometric variations of the left ventricular outflow tract associated with DSS in children and to determine whether these variations have a role in the pathogenesis of DSS. The aortoseptal angle (ASA), mitral-aortic valve separation (MAS), and the size of the aortic annulus were determined in two groups of children. Group 1 comprised 11 patients with isolated DSS, who were compared with an age- and body surface area- (BSA) matched healthy children (Group 1A, n: 20). Group 2 comprised 10 patients with DSS and ventricular septal defect (VSD). Group 2 was compared with an age- and BSA-matched patients with isolated perimembranous VSD (Group 2A, n: 22). Measurements were carried out from previously recorded echocar diographic studies. The ASA was steeper (119.3 ±6.1° vs 137.5 ±5.6°, p < 0.001), and the MAS was wider (6.1 ±1.6 vs 3.2 ±0.7 mm, p < 0.001) in patients with isolated DSS than in healthy control subjects. Similar differences were found between patients in Group 2 and Group 2A; the ASA was steeper (122.2 ±6.5° vs 141.3 ±5.0°, p< 0.001), and the MAS was wider (5.8 ±1.5 vs 3.8 ±1.1 mm, p < 0.001). The size of the aortic annulus was not different among the four study groups. Although the MAS was significantly wider in patients with DSS, there was significant overlap in MAS between patients and controls. However, if an ASA ≤ 130° was chosen as a predictive variable, it was found to be a highly sensitive, specific, and positive predictive marker for the development of DSS. This study demonstrates that DSS is associated with a steeper ASA, and a wider MAS, in patients with or without associated VSD. These morphologic abnormalities, especially a steeper ASA, may be risk factors for the development of DSS.

The changing aetiological spectrum of pericarditis in children

Abstract The aetiologies, clinical features and follow-up data of 62 children with pericarditis admitted to a university hospital during a 6-year period were retrospectively assessed. Uraemic pericarditis was the most frequent and infections the second most frequent cause. In this series, the proportion of children with purulent pericarditis is less than in previous reports from developing countries. Familial Mediterranean fever, neoplasias, acute rheumatic fever and post-pericardiotomy syndrome were other important causes of pericarditis.

Is high levels of factor VIII a possible risk factor for intracardiac thrombosis

Recently, high levels of factor VIII has been [normal; 60–140%]). She became normal after 6 to 8 described as a new thrombotic risk factor [1,2]. weeks of the onset of her disease and had no attack of Individuals with levels of factor VIII exceeding 150 thrombosis [4]. Since then recent progress in DNA IU/dl had a 3-fold increased risk of thrombosis technology made it possible to screen easily and compared to those with levels which are below 100 accurately for some of the genetic thrombotic risk IU/dl [3]. factors. Further genetic analysis revealed that she was We have recently reported a 2-year-old girl with an a carrier of FV 1691 G-A mutation with a high level intracardiac thrombosis associated with acquired proof factor VIII (220.2 IU/dl). She inherited FV 1691 tein C deficiency (Protein C activity was: 10%; G-A from her father and high factor VIII level from

Biküspid aort kapağı ve sol taraf kardiyovasküler anomalilerde kalıtım incelemesi

Amac: Bikuspid aort kapagi (BAK) veya diger sol taraf kardiyovaskuler anomalisi (STKA) olan hasta ailelerinde benzer anomalilerin sikliginin belirlenmesi ve hastalar ile ailelerinde saptanan kardiyak anomalilerin ekokardiyografik ozelliklerinin degerlendirilmesidir.Gerec ve Yontem: Ekim 2010 – Agustos 2011 tarihleri arasinda Ankara Universitesi Tip Fakultesi Cocuk Sagligi ve Hastaliklari Anabilim Dali, Cocuk Kardiyolojisi Bilim Dali’nda BAK ve/veya bikuspid olmayan aort kapak darliklari, aort koarktasyonu (AK), kesintili arkus aorta ve izole cikan aorta genislemesi (CAG) gibi diger STKA’lar nedeniyle degerlendirilen hastalar ve bu hastalarin yakinlari calismaya alindi. Genetik bozuklugu olan hastalar ve yakinlari calisma disi birakildi. Hastalar ve birinci derece yakinlarina ekokardiyografik inceleme yapildi. Inceleme ile sol taraf kardiyovaskuler anomali saptanan her yeni bireyin yakinlari da kademeli ornekleme yontemiyle calismaya katildi. Hastalar BAK, BAK + AK ve diger STKA’lar olmak uzere uc gruba ayirilarak incelendi. Hasta yakinlari da ailelerindeki probandin kardiyak anomalisine gore gruplanarak degerlendirildi. Hastalar ve kardeslerinin ekokardiyografik olcumleri, Z skorlari hesaplanarak standardize edildi ve gruplarin bulgularinin karsilastirmasinda bu skorlar esas alindi. P<0.05 olan sonuclar istatistiksel olarak anlamli kabul edildi.Bulgular: Degerlendirilen 263 BAK ve diger STKA’li hasta yakinindan, 19’unda (%7.2) STKA saptandi. Bunlarin 14’unde (%5.3) aort genislemesi, 5’inde (%1.9) BAK mevcuttu. Calismaya alinan 86 aileden 11’inde (%12.8) ikinci bir bireyde patoloji saptandi. Bikuspid aort kapagi olan 66 hastanin%81.8’i erkek idi ve bu BAK’li hastalarin 14’une (%21.2) AK eslik ediyordu. Bikuspid aort kapakli hastalar arasinda aort darligi (AD) sikligi %37.9, aort yetersizligi (AY) sikligi %53, AD+AY sikligi %25.8, aort genislemesi sikligi %48.5 bulundu. Bikuspid kapagi olan hastalarin aort olcumleri, saglikli kardeslerinin olcumlerinden fazla idi. Adolesan BAK’li hastalarda CAG ve AD sikligi, preadolesan hastalardan fazla bulundu. Sag koroner-nonkoroner yaprakcik yapisikligi olan hastalarda kapak disfonksiyonu ve aort genislemesine daha sik rastlandi. Bikuspid aort kapakli hastalarda saptanan CAG sikligi ile aort anulusu ve cikan aort Z skorlari STKA grubundakilerden; STKA’li bireylerde gozlenen sol atrium genisligi ve sol ventrikul arka duvar kalinlik Z skorlari ile ventrikuler septal defekt (VSD) ve patent duktus arteriosus eslik etme sikligi BAK grubundaki hastalardan anlamli olarak fazla idi. VSD eslik eden AK’li hastalarin aort genislikleri etmeyenlerden kucuk bulundu.Sonuc: Bikuspid aort kapagi ve diger STKA’larin yol actigi enfektif endokardit, aort disseksiyonu, aort rupturu ve ani olum komplikasyonlarinin neredeyse tamaminin ciddi sorun olusturmadan onlenebilir olmasi, hastalarin zamaninda taninip, gerektiginde mudahale edilmesini zorunlu kilar. Calismamiz sirasinda yeni tani alan hasta yakinlarinin izleme alinmasi ve hastaliklari ile ilgili bilgilendirilmeleri saglandi. Anomali saptanan ailelerdeki bireylerden bir kisminin DNA’ lari ayirtildi, hastalar kontrole geldikce geri kalanlarin da ayirtilmasi planlandi. Bikuspid aort kapagi ve diger STKA’larin dominant kalitilabilmesi, bazi ailelerde kumelendiklerinin gosterilmesi ve bu hastalarin yakinlarinda kapak anomalisi olmadan aort anevrizmasi gelisebilmesi nedeniyle en azindan BAK’li, mumkun olursa tum STKA’li hasta yakinlarinin benzer anomaliler acisindan taranmasi gerektigini dusunmekteyiz. Bu arastirma, ulkemizde yapilan ve STKA’li hasta yakinlarinin kardiyovaskuler anomaliler acisindan tarandigi ilk calismadir.

Akut myokarditte kardiak troponin I

We report a successful outcome on an acute fulminant myocarditis treated with 12-hour high-dose (2 g/kg)intravenous immunoglobulin in a 9-month-old girl. We achieved rapid clinical and myocardial functionalimprovement in this patient. Cardiac Troponin I (cTnI) levels also rapidly declined to normal levels in responseto intravenous immunoglobulin (IVIG) treatment. Cardiac Troponin I levels showed clear correlation with myocardial functional parameters during short-term follow-up of the patient. We conclude that high doseIVIG is very effective in acute fulminant myocarditis and cTnI is a useful marker to assess cardiac injury in these patients.

Relation of mass/volume ratio to ECG abnormalities and symptoms in children with aortic stenosis/insufficiency

In this study, to determine whether symptoms and ECG abnormalities relate to left ventricular (LV) mass, volume, and mass/volume (M/V) ratio in children with aortic stenosis (AS) and/or insufficiency (AI), the authors examined 23 patients with echocar diography. LV volumes and mass were calculated with echocardiography. Also, the peak and mean gradients across the aortic valve and left ventricular meridional wall stress (ESWS) were determined by use of echo Doppler techniques. Fourteen patients (mean age 5.84 ±3.49 years) had AS alone. Of these, 14 had symptoms and seven had abnormal-appearing ECGs. Nine patients (mean age 6.91 ±4.35 years) had AS/AI. Of these nine, four had symptoms and two had ECG abnormalities. The authors observed that the incidences of symptoms and ECG abnormalities were higher in the patients with AS than in those with AS/AI. There was no significant correlation between symptoms and ECG abnormalities with peak gradient, mean gradient, valve area, LV mass, volume, and mass/volume ratio in patients with AS/AI. However, significant correlation was found between symptoms and ECG abnormalities and ESWS in AS/AI patients. In conclu sion, ECG abnormalities and symptoms do not always indicate the severity of AS and AS/AI.