Flekainid Andersen-Tawil sendromlu pediyatrik hastalarda bidireksiyonel ventriküler taşikardiyi tamamen ortadan kaldırabilir mi?

WOS: 000453086300012PubMed ID: 30516532Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities. QT prolongation and ventricular arrhythmias, including bidirectional ventricular tachycardia (VT) and polymorphic VT, may occur. About 60% of all cases of the disorder are caused by mutations in the KCNJ2 gene. A 13-year-old female patient was referred for frequent premature ventricular contractions. Suspicion of ATS due to dysmorphic findings, electrocardiogram changes, and periodic muscle weakness was genetically confirmed. Beta-blocker therapy was initiated as a first-line treatment for bidirectional VT and frequent polymorphic premature ventricular contractions. Despite proper treatment, the VT attacks were not brought under control. Flecainide was added to the treatment regime. The number of premature ventricular contractions was dramatically reduced with flecainide and the VT attacks completely disappeared. This patient is a rare example of ATS in our country. This article provides a description of successful management of rhythm disturbance in a patient with ATS.Andersen-Tawil sendromu (ATS), kas güçsüzlüğü(periyodik paralizi), ritm bozuklukları ve gelişim bozukluklarına neden olan bir hastalıktır. QT uzaması ve bidireksiyonel ventriküler taşikardi (VT) ve polimorfik VT’yide içeren ventriküler aritmiler ortaya çıkabilir. Tüm olguların yaklaşık %60’ı, KCNJ2 genindeki mutasyonlardankaynaklanmaktadır. On üç yaşında kız hasta, sık ventriküler erken atımlar nedeniyle hastanemize sevk edildi.Hasta, morfolojik bozuklukları, EKG değişiklikleri ve periyodik kas güçsüzlüğü nedeniyle ATS olarak düşünüldüve tanı genetik olarak doğrulandı. Bidireksiyonel VT vesık polimorfik erken ventriküler atımları için ilk basamak tedavi olarak beta bloker başlandı. Ancak tedaviyerağmen, hastanın VT atakları kontrol altına alınamadı.Bunun üzerine Flekainid tedaviye eklendi. Flekainid ileprematüre ventriküler atımların sayısı çarpıcı bir şekildeazaldı. Ayrıca VT atakları tamamen kayboldu. Bu hasta, ülkemizde nadir görülen ATS’li hastalardan biridir. Bumakalede ATS’li bir hastada ritm bozukluğunun başarılıyönetimi anlatılmıştır

A rare association with suffered cardiac arrest, long qt interval, and syndactyly: Timothy syndrome (LQT-8)

Timothy syndrome (TS), also referred to as syndactylyassociated long QT syndrome (LQTS) or LQT8, is a multi-system disorder characterized by developmental defects causing dysmorphic facial features, congenital heart abnormalities, neurocognitive impairment, and webbing of the toes and fingers (syndactyly) (1). TS is caused by mutations of the CACNA1C gene, which encodes L-type calcium channel Ca (V) 1.2. Two types of TS have been defined according to the mutation sites: G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). These gain-offunction mutations result in an impaired open-state and voltagedependent inactivation of the L-type calcium channel, ultimately 672 Case Reports Anatol J Cardiol 2015; 15: 671-4 leading to a markedly prolonged myocardial action potential (delayed ventricular repolarization) (1-4)

Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV

Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation. Recurrent hyperpyrexia and anhydrosis are seen in patients as a result of a lack of sweat gland innervation. Self-mutilation and insensitivity to pain result in orthopedic complications and patients undergone recurrent surgical interventions with anesthesia. However, these patients are prone to perioperative complications such as hyperthermia, hypothermia, and cardiac complications like bradycardia and hypotension. We report a 5-year-old boy with hereditary sensory autonomic neuropathy type IV, developing hyperpyrexia and cardiac arrest after anesthesia

Sağlıklı görünen farelerin karaciğer ve meme dokularında oksidatif stres biyobelirteçlerinin düzeyleri

Giriş: Bu çalışmada ileride yapılacak toksikolojik araştırmalara temel veri sağlamak amacıyla karaciğer ve meme dokularında antioksidan sistemler [glukoz-6-fosfat dehidrogenaz (G6PDH), katalaz (CAT), süperoksit dismutaz (SOD), glutatyon-S-transferaz (GST), redükte glutatyon (GSH)] incelendi. Buna ek olarak, lipit peroksidasyonun bir göstergesi olarak karaciğer ve meme dokularında tiyobarbiturik asit reaktif maddesi (TBARS) ölçüldü. Materyal ve Metod: Sağlıklı görünen, histopatolojik inceleme sonucu normal karaciğer ve meme dokusu bulgusu bulunan 66 fare (36 erkek, 30 dişi) çalışmaya alındı. Dokular soğuk % 1,15 KCI ile homojenize edildi. Antioksidan enzimler, GSH ve TBARS düzeyi 14.000 rpm’de santrifüjden sonra elde edilen süpernatant’ta spektrofotometrik olarak ölçüldü. Bulgular: Erkek ve dişi farelerin karaciğer dokularındaki antioksidan sistemlerin ve TBARS düzeylerinin meme dokusundan yüksek olduğu gözlendi. Bununla birlikte, meme dokusundaki G6PDH hariç CAT, SOD, GST, GSH ve TBARS düzeylerinin erkek ve dişi fareler arasında farklılık göstermediği saptandı. Öte yandan, erkek fare karaciğerinde G6PDH hariç CAT, SOD, GST, GSH ve TBARS düzeylerinin dişi karaciğerine göre daha yüksek bulundu. Sonuç: Sonuçlar, karaciğer dokusunda antioksidan savunmanın meme dokusuna oranla yüksek olmasının, karaciğerde olası çeşitli toksik maddelere karşı kompensatuar yanıta bağlı olabileceğini ve bu şekilde hücreleri oksidatif hasara karşı koruyabileceğini göstermiştir.Purpose: In the present study, the levels of antioxidant systems such as glucose-6-phosphate dehydrogenase (G6PDH), catalase (CAT), superoxide dismutase (SOD), glutathione-S-transferase (GST) and, also reduced glutathione (GSH) in the liver and breast tissues were examined in order to obtain basal data for subsequent toxicological investigations. Additionally, the level of thiobarbituric acid reactive substance (TBARS) was measured in liver and breast tissues as an index of lipid peroxidation. Materials and Methods: Sixty-six apparently healthy mice (36 males, 30 females) had normal liver and breast tissues (histopathological data) were taken into the study. The tissues were homogenised with ice-cold 1.15% KCI. The activities of antioxidant enzymes, the levels of GSH and TBARS were measured as spectrophotometric in the supernatant obtained from centrifugation at 14.000 rpm. Results: The levels of antioxidant systems and TBARS in the liver were significantly higher than those found in the breast tissue of female and male mice. However, the levels of CAT, SOD, GST, GSH and TBARS in breast tissue except G6PDH enzyme were not significantly different between female and male mice. On the other hand, the levels of CAT, SOD, GST, GSH and TBARS in the male liver were higher than the female liver except for G6PDH enzyme. Conclusion: Results suggest that antioxidant defense of the liver tissue was higher compared to breast tissue possibly due to a compensatory response to various toxic substances in the liver and thereby protects the cells against oxidative damage

Successful elimination of a Mahaim pathway using an 8 mm tip cryoablation catheter in a child

Mahaim fibers typically demonstrate decremental conduction properties and constitute approximately 3% of preexcitation syndromes (1). Mahaim pathways are usually right-sided, however several leftsided cases have been reported (2). Conventionally Mahaim pathway ablation is performed with radiofrequency ablation (RFA). We report a patient who presented with a wide QRS tachycardia with left bundle branch block (LBBB) pattern. The electrophysiology study demonstrated Mahaim tachycardia and the patient was successfully treated with cryoablation following a failed attempt with RFA

Spontaneous Remission of Congenital Complete Atrioventricular Block in Anti-Ro/La Antibody-Negative Monozygotic Twins: Case Report

Background: Congenital complete atrioventricular block without any structural heart disease and anti-Ro/La negativity is very rare. Discordant complete atrioventricular block, which is more frequently defined in the literature as an autoimmune mechanism, is much more rare in monozygotic twins. Case Report: The 26-year-old healthy mother had given birth in her first spontaneous, uneventful pregnancy to monozygotic twins at week 35. While the first twin’s physical examination proved her to be normal with a pulse rate consistent with her age, the second twin had a pulse rate of approximately 40 beats/minute.The patient was confirmed to have congenital complete atrioventricular block. Conclusion: Despite this case appears to be an isolated one, a discordant complete atrioventricular block regression without any autoimmune evidence should be included in the differential diagnosis of bradycardia in infant

Ventricular Tachycardia Detected by Implantable Loop Recorder in a Child with Recurrent Syncope

In this article, we present a 10-year-old boy who was admitted to the hospital with recurrent syncope. There was no remarkable finding in patient’s physical examination, family history, and the diagnostic 12-lead electrocardiogram (ECG), chest x-ray, ECG Holter monitoring, event recording, echocardiography, coronary computed tomography (CT) angiography, Ajmaline test for the diagnosis of Brugada syndrome, brain magnetic resonance imaging, and sleep/wake electroencephalogram. We started beta-blocker therapy because the patient had exercise-induced syncope. An Implantable loop recorder (ILR) was inserted to the patient. Three years later, polymorphic ventricular tachycardia called torsades de pointes was detected by the ILR during syncope occurred with exercise. The patient had been taking high-dose betablocker treatment, an implantable cardioverter defibrillator was implanted into the patient. ILR can play an important role in the diagnosis of life-threatening arrhythmia in children with unexplained syncope. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 123-5

Electroanatomic mapping-guided catheter ablation of supraventricular tachycardia in children with ebstein's anomaly

WOS: 000445208600021PubMed ID: 29882187In Ebstein's anomaly (EA), tachycardia substrates are complex, and accessory pathway (AP) ablations are often challenging. This study demonstrates the utility of the EnSite Velocity system (St. Jude Medical, St Paul, MN) in the catheter ablation of supraventricular tachycardia in children with EA. Twenty patients [Female/Male=8/12, median age 11.5years (2.6-18)] with EA who underwent catheter ablation guided by the EnSite Velocity system between December 2011 and December 2016 were retrospectively evaluated. Five patients had severe EA, and two of them were at Fontan palliation pathway. The most common indications for ablations were palpitations/syncope and treatment-resistant arrhythmias. Thirty-one tachycardia substrate foci (21 manifest AP, 2 concealed AP, 4 Mahaim AP, 3 focal atrial tachycardias, and 1 typical atrioventricular nodal reentrant tachycardia) were detected in 20 patients. There were multiple tachycardia substrates in 11 patients (55%). The patient-based acute procedure success rate was 19/20 (95%), and the tachycardia-based success rate was 30/31 (97%). The mean procedure time was 170 +/- 43min (90-265). Fluoroscopy was not used in 15 (75%) patients. The mean fluoroscopy time in the remaining five patients was 3.6 +/- 2.9min (0.7-7.8). During a mean follow-up of 35.1 +/- 20.3months (6-60), tachycardia recurred in four patients (4/19, 21%). No complications were seen. Catheter ablation of arrhythmias can be performed effectively and safely in pediatric EA patients by using a limited fluoroscopic approach with the help of electroanatomical mapping systems. However, the rate of tachycardia recurrence at follow-up remains high