Pediatric Cardiology

Background: The transcatheter closure of patent ductus arteriosus (PDA) may cause more complications in small children. Amplatzer (St. Jude Medical, Inc., Plymouth, MN, USA) produced 3 types of devices for ductal occlusion: the Amplatzer Duct Occluder I (ADO I) and II (ADO II) and the recently introduced Amplatzer Duct Occluder II Additional Sizes (ADO II AS). We performed this study to determine the efficacy and complication rates in children who weigh less than 10 kg for the 3 types of devices used in our clinic. Methods: Between February 2007 and March 2012, 77 patients weighing less than 10 kg had their PDAs occluded with Amplatzer devices. Results: The mean age of the patients was 0.76±0.44 years (17 days¬-2 years), and their mean weight was 6.73±2.05 (1.2-9.9) kg. In total, 54 girls (70.1%) and 23 boys (29.9%) with a mean pulmonary ductus diameter of 2.55±1.0 (1.08-5.94) mm were included in the study. The ADO I was used in 26 patients (33.8%), the ADO II was used in 43 patients (55.8%), and the ADO II AS was used in 8 patients (10.4%). The mean ages of the patients using the ADO I, ADO II and ADO II AS were 1.07±0.48, 0.66±0.31 and 0.28±0.17 years (p<0.05), respectively. Their mean weights were 7.86±1.45, 6.50±1.85 and 4.36±2.49 kg (p<0.05), respectively, and their mean narrowest ductal diameters were 3.11±0.96, 2.25±1.06 and 2.33 ±1.01 mm (p<0.05), respectively. The use of the ADO II and ADO II AS was found to be more common in type C defects. One patient with the ADO I and 5 patients with the ADO II (7.8%) developed varying degrees of left pulmonary artery stenosis or iatrogenic aortic coarctation. In 1 patient, the ADO II AS was replaced with the ADO II due to a significant residual shunt observed during the procedure. Conclusion: Each of the Amplatzer devices has its own advantages and disadvantages. While the ADO I is convenient for medium and large defects, the ADO II and ADO II AS can be used both anterogradely and retrogradely. The ADO II AS is easy to use in small infants.

Purpose: Croup syndrome or laryngotracheitis is one of the frequent causes of transient upper airway obstruction by laryngeal and tracheal blockage in infants and children. Upper airway obstruction may lead to increased pulmonary arterial pressure in children. In this study, the relationship between croup syndrome and pulmonary arterial pressure was investigated. Materials and methods: Forty children with croup syndrome and 14 healthy, age-and sex-matched control subjects were enrolled in this study. Of all patients, 12 with severe symptoms, such as dyspnea, cyanosis, hypoventilation, were accepted as bhigh croup scoreQ (croup score z 6). All patients with high croup score were treated with dexamethasone. We assessed pulmonary arterial pressure of patients during therapy using serial echocardiographic measurements. Results: Our results showed that children with croup syndrome have significantly higher pulmonary arterial pressures than healthy subjects at the time of diagnosis. Pressure values of patients with high croup score were found to be significantly higher when compared with those of the low -core group ( P b .05). However, there was no difference between 2 groups at the end of therapy. Conclusions: It is suggested that pulmonary arterial pressure increased to different extents in the acute stage of illness and that the degree of increase was related to the severity of disease and average hospital stay. In addition, increased pulmonary arterial pressure due to croup syndrome is reversible. Furthermore, evaluation of children with croup syndrome by using Doppler echocardiography may be useful in the monitoring of pulmonary arterial pressure and in the follow-up of their therapy.

O Ob bj je ec ct ti iv ve e: : The aim of this study is to investigate prospectively whether intracardiac catheterization produces myocardial damage in paediatric heart. M Me et th ho od ds s: : The study was performed in all patients undergoing diagnostic cardiac catheterization at our institute. A baseline serum sample was drawn before the procedure. The second serum sample was obtained 4-6 hours after the procedure. Cardiac troponin-I and creatine kinase isoenzyme MB fraction levels were determined quantitatively. R Re es su ul lt ts s: : Diagnostic cardiac catheterization was performed in 30 patients. There were 17 males and 13 females in the study group. The median age was 12 months (range 1 to 204 months); the median body weight was 8 kilograms (range 2.1 to 45 kilograms). The increase in cardiac troponin I (0.21±0.04 ng/ml to 1.16±1.40 ng/ml, p<0.05) and creatine kinase isoenzyme MB (26.68±7.53 U/L to 41.65±22.12 U/L, p< 0.05) levels after the procedure was significant. C Co on nc cl lu us si io on n: : This study shows that serum elevations of cardiac troponin I and creatine kinase isoenzyme MB occur after the most of paediatric diagnostic cardiac catheterization procedures. (Anadolu Kardiyol Derg 2005; 5: 112-5) K Ke ey y W Wo or rd ds s: : Cardiac troponin I, creatine kinase isoenzyme MB, myocardial injury, paediatric cardiac catheterization.

Acquired abnormalities of coagulation and fibrinolysis in nephrotic syndrome have been implicated in the pathogenesis of deep-vein and arterial thrombosis. A mutation in the factor V and methylenetetrahydrofolate reductase (MTHFR) gene, the commonest inherited risk factor for venous thrombosis, may contribute to the risk of both arterial and deep-vein thrombosis in patients with nephrotic syndrome. Here, we report on an arterial thrombosis in a young girl with idiopathic membranous glomerulonephritis associated with heterozygous factor V Leiden and homozygous MTHFR C677T mutation. We postulate that screening for factors such as factor V Leiden and MTHFR C677T mutation may be beneficial to patients associated with thromboembolism and idiopathic nephrotic syndrome.

Transcatheter patent ductus arteriosus closure has developed standard clinical practice. We report a moderate patent ductus arteriosus in 10-year-old girl was closed with firstly Amplatzer duct occluder II and secondly the device was embedded by a Cook detachable coil because of ductal recanalization. This case report demonstrates that to apply this combination in children is feasible and safe.

The transcatheter closure of patent ductus arteriosus (PDA) may cause more complications in small children. Amplatzer (St. Jude Medical, Plymouth, MN) has produces three types of devices for ductal occlusion: the Amplatzer duct occluder I (ADO I) and II (ADO II) and the recently introduced ADO II additional sizes (ADO II AS). We performed this study to determine the efficacy and complication rates in children who weigh \10 kg for the three types of devices used in our clinic. Between February 2007 and March 2012, 77 patients weighing\10 kg had their PDAs occluded with ADOs. The mean age of the patients was 0.76 ± 0.44 years (range 17 days-2 years), and their mean weight was 6.73 ± 2.05 (range 1.2-9.9) kg. In total, 54 girls (70.1 %) and 23 boys (29.9 %) with a mean pulmonary ductus diameter of 2.55 ± 1.0 (1.08-5.94) mm were included in the study. The ADO I was used in 26 patients (33.8 %); the ADO II was used in 43 patients (55.8 %); and the ADO II AS was used in 8 patients (10.4 %). The mean ages of patients with the ADO I, ADO II, and ADO II AS were 1.07 ± 0.48, 0.66 ± 0.31, and 0.28 ± 0.17 years (p \ 0.05), respectively. Their mean weights were 7.86 ± 1.45, 6.50 ± 1.85, and 4.36 ± 2.49 kg (p \ 0.05), respectively. Their mean narrowest ductal diameters were 3.11 ± 0.96, 2.25 ± 1.06, and 2.33 ± 1.01 mm (p \ 0.05), respectively. The use of the ADO II and ADO II AS was found to be more common in type C defects. One patient with the ADO I and 5 patients with the ADO II (7.8 %) developed varying degrees of left pulmonary artery stenosis or iatrogenic aortic coarctation. In 1 patient, the ADO II AS was replaced with the ADO II due to a significant residual shunt observed during the procedure. Each of the ADOs has its own advantages and disadvantages. Although the ADO I is convenient for medium-and large-sized defects, the ADO II and ADO II AS can be used both anterogradely and retrogradely. The ADO II AS is safe and efficient to use in small infants.

BackgroundMacrophage migration inhibitory factor and mannose-binding lectin-2 play important roles in the pathogenesis of several acute and chronic inflammatory/autoimmune disorders. The aim of the study was to investigate any possible association between migration inhibitory factor and mannose-binding lectin-2 gene polymorphisms and acute rheumatic fever in children.Material and methodsA total of 38 unrelated children with acute rheumatic fever and 40 age- and sex-matched healthy controls were analysed for codon 54 A/B polymorphism in mannose-binding lectin-2 gene and −173 G/C polymorphism in migration inhibitory factor gene by using the polymerase chain reaction method.ResultsFrequency of BB genotype of mannose-binding lectin-2 gene was higher in the patient group. Interestingly, children with acute rheumatic fever with AA genotype tended to have chorea compared with children with BB genotype. There was a statistically significant increase in frequency of the migration inhibitory ...

Left ventricular pseudoaneurysm is especially rare in childhood, and its main treatment option should be surgery. We describe the case of a 9.5-year-old boy who first underwent mitral vegetation excision and then an unsuccessful pseudoaneurysm operation. Owing to pseudoaneurysmal sac dimensions, inferior caval vein syndrome developed. We delivered the Amplatzer Vascular Plug 4 into the pseudoaneurysm and treated the inferior caval vein syndrome with a bare Cheatham–Platinum stent. The patient was asymptomatic at the last follow-up.

Fibulin-4 is a member of the fibulin family, a group of extracellular matrix proteins prominently expressed in medial layers of large veins and arteries. Involvement of the FBLN4 gene in cardiovascular pathology was shown in a murine model and in three patients affected with cutis laxa in association with systemic involvement. To elucidate the contribution of FBLN4 in human disease, we investigated two cohorts of patients. Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. In a second group of 22 patients presenting with arterial tortuosity, stenosis and aneurysms, FBLN4 mutations were identified in three patients, two homozygous missense mutations (p.Glu126Lys and p.Ala397Thr) and compound heterozygosity for missense mutation p.Glu126Val and frameshift mutation c.577delC. Immunoblotting analysis showed a decreased amount of fibulin-4 protein in the fibroblast culture media of two patients, a finding sustained by diminished fibulin-4 in the extracellular matrix of the aortic wall on immunohistochemistry. pSmad2 and CTGF immunostaining of aortic and lung tissue revealed an increase in transforming growth factor (TGF)b signaling. This was confirmed by pSmad2 immunoblotting of fibroblast cultures. In conclusion, patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis. This confirms the important role of fibulin-4 in vascular elastic fiber assembly. Furthermore, we provide the first evidence for the involvement of altered TGFb signaling in the pathogenesis of FBLN4 mutations in humans.

Light-Cycler. Neither genotype distributions nor the allele frequencies for the Thr431Asn polymorphism showed a significant difference between the groups. These results suggest that there is no association of the ROCK2 gene Thr431Asn polymorphism with the development of cardiac septal defects in pediatric patients.

Background: The goal of repair of right ventricular outflow tract obstruction with or without Tetralogy of Fallot (TOF) is to eliminate valvular and/or subvalvular obstruction. However, this operation has a high risk of late complication of pulmonary insufficiency. In this study, we aimed to present early period results of our new technique that we call "V-Plasty" developed to prevent pulmonary insufficiency after pulmonary valve reconstruction in selected patients. Methods: Between January 2006 and January 2010, we performed V-plasty for pulmonary valve reconstruction in 10 patients. Eight patients (5 males, 3 females) had TOF and 2 patients (1 male, 1 female) had atrial septal defect concomitant with pulmonary valve stenosis. Patient selection for V-plasty reconstruction was made due to the pulmonary valve anatomy and degree of stenosis. The mean follow-up time was 55.7 ± 16.2 months (ranging from 32 to 80 months). Results: Functional capacity of the patients improved immediately after the surgery. There were no mortality and re-operation in follow-up period. Patients were followed up with echocardiography one week after the operation, at 1st, 6th, 12th months and annually. There was no pulmonary insufficiency. Conclusions: Operative correction of the pulmonary outflow tract obstruction with or without TOF, frequently requires transannular enlargement because of the infundibular and/or annular-valvular obstruction. This conventional technique is usually a reason for late pulmonary insufficiency. In our study, we have not seen pulmonary insufficiency in early term follow-up period. Our early term results are encouraging, but long term follow-up results are needed with large case series.

Pulmonary arterial hypertension secondary to untreated left-to-right shunt defects leads to increased pulmonary blood flow, endothelial dysfunction, increased pulmonary vascular resistance, vascular remodelling, neointimal and plexiform lesions. Some recent studies have shown that inflammation has an important role in the pathophysiology of pulmonary arterial hypertension. The aim of this study is to evaluate serum pentraxin 3 and high sensitive (hs)-C reactive protein (hs-CRP) levels in children with severe pulmonary arterial hypertension (PAH) secondary to untreated congenital heart defects and evaluate the role of inflammation in pulmonary hypertension. Cross sectional study. After ethics committee approval and receiving consent from parents, there were 31 children were selected for the study with severe PAH, mostly with a left-to-right shunt, who had been assessed by cardiac catheterisation and were taking specific pulmonary vasodilators. The control group consisted of 39 age an...

Özet Ektopia kordis çok nadir görülen bir kalp anomalisidir. Kalbin bir kısmının veya tamamının toraks dışına yerleşmesidir. Sıklıkla beraberinde diğer konjenital kalp hastalıkları da görülür. Biz de torakoabdominal tip ektopia kordis ve atriyal septal defekti olan bir günlük olguyu sunmayı amaçladık.

Özet CHARGE sendromu, göz ve kulak anomalileri, kalp defektleri, genital hipoplazi, koanal atrezi ve beyin anomalileriyle karakterize nadir görülen bir sendromdur. Bu tür hastalara multidisipliner yaklaşım şarttır. Özellikle ayrıntılı kardiyak ve göz muayenesi yapılmalı, işitme testi ve genital yönden değerlendirilmelidir. İki aylık kız hasta kliniğimize halsizlik, yorgunluk, huzursuzluk, kusma, beslenme zorluğu ve hızlı nefes alıp-verme tablosu ile başvurdu. Yapılan fizik muayenesinde genel durum düşkünlüğü, solukluk, kalp muayenesinde aritmi, taşikardi, gallop ritmi, karın muayenesinde ise 5-6 cm hepatomegalisinin olduğu saptandı. Akciğer grafisinde kardiyomegali, elektrokardiyografisinde (EKG) bire bir iletili atriyal flutter atakları ve yapılan transtorasik ekokardiyografisinde dilate kardiyomiyopati (EF; %35, FS; %16), arkus aorta ve inen aorta ince, klasik yerinde aort koarktasyonu (gradiyent ortalama; 30-35 mmHg) ve ince patent duktus arteriozusun olduğu görüldü. Hastanın yapılan kateterizasyonunda arkus aorta, torasik aorta ve abdominal aortanın tübüler tarzda hipoplazik ve klasik yerinde aort koarktasyonu olduğu görüldü. Hasta middle aortik sendromu olarak değerlendirildi. Ayrıca hastada oküler koloboma ve büyüme gelişme geriliği tespit edildi. Kardiyak, göz ve büyüme gelişme geriliği bulguları ile 2003 yılında yeniden gözden geçirilen tanı kriterlerine göre olası CHARGE sendromu olarak değerlendirildi. Aort koarktasyonu sonrası sekonder dilate kardiyomiyopati yaygın görülen bir durumdur. Uygun ve etkili tedavi ile dilate kardiyomiyopati düzelmektedir. CHARGE sendromu ile konjenital kalp hastalığı birlikteliği %60-70 oranındadır. Farklı konjenital kalp hastalıkları tablosu görülebilir. Middle aortik sendromu ile CHARGE sendromunun birlikte görüldüğü olgu sayısı az olmasından dolayı olguyu sunmayı amaçladık. Anahtar kelimeler: CHARGE sendromu; konjenital kalp hastalığı; middle aortik sendrom Abstract CHARGE syndrome is a rarely encountered syndrome characterized by eye and ear anomalies, as well as cardiac defects, genital hypoplasia, coanal atresia, and brain anomalies. Multidisciplinary approach is mandatory in such patients. In particular, detailed cardiac and ophthalmologic examination should be performed, and the patient should be evaluated in terms of audiometric test and genital organs. A two-month-old baby was brought to our clinic with weakness, fatigue, irritability, vomiting, feeding difficulty, and rapid respiration picture. On her physical examination, general status was poor; arrhythmia, tachycardia, and gallop rhythm were detected on cardiac examination and a 5-6 cm hepatomegaly was detected on abdominal examination. In chest radiograph revealed cardiomegaly; In electrocardiography (ECG) revealed atrial flutter attacks with 1:1 rhythm; transthoracic echocardiography revealed dilated cardiomyopathy (EF; 35%, FS; 16%), aortic coarctation in the aortic arch and in the thin, classical part of descending aorta (mean gradient; 30-35 mmHg), and fine patent ductus arteriosus. During the catheterization, tubular hypoplasia of the aortic arch and istmic aortic coarctation, and hypoplasia was observed in the thoracic and abdominal aorta. The patient was considered to have middle aortic syndrome. Moreover, ocular coloboma and retardation of growth and development were identified in the patient. Cardiac and ophthalmic signs together with the signs of retardation of growth and development were considered probable CHARGE syndrome according to the diagnostic criteria reviewed in 2003. Dilated cardiomyopathy secondary to aortic coarctation is a common condition. Dilated cardiomyopathy improves with appropriate and effective therapy. The prevalence of concurrency of CHARGE syndrome and congenital cardiac disease is 60-70%. Different pictures of congenital cardiac disease can be seen. We, here, introduced a case considered to have CHARGE syndrome together with middle aortic syndrome, the concurrency of which has been seen very little.

Objective: To evaluate the location of rhabdomyomas in the heart, and the spontaneous regression, clinical and echocardiographic findings and association of rhabdomyomas with tuberous sclerosis. Materials and Methods: The medical files of 12 rhabdomyoma cases diagnosed between 2005 and 2011 in the outpatient clinic of Paediatric Cardiology Department were retrospectively evaluated. Rhabdomyoma diagnosis was based on transthoracic echocardiography (TTE) and tuberous sclerosis was diagnosed according to clinical characteristics and imaging methods. Results: The mean age at diagnosis of 12 cases, eight (66.6%) male, four (33.3%) female, male/female ratio 2, was 3.3+4.3 years (3 months-13 years). Seven cases (58.3%) were diagnosed to have definite tuberous sclerosis. Location of rhabdomyomas was as follows, seven cases (58.3%) in the left ventricle, two cases (16.6%) in the right ventricle, two cases (16.6%) in both ventricles and one case (8.3%) in the right atrium. The mass showed spontaneous regression in four of our cases (33.3%). Left ventricular size and systolic functions were normal in all cases. While the majority of the cases were asymptomatic, three cases had signs of congestive heart failure and one case had arrhythmia. The tumours of the cases with congestive heart failure were surgically excised. Conclusion: Consistent with the literature, the frequency of definite tuberous sclerosis was 58.3%. While most of the rhabdomyomas were located in the left ventricle, 4 (33.3%) cases had spontaneous regression.

Özet İnfantil Pompe hastalığı (glikojen depo hastalığı tip 2) alfa-glukozidaz eksikliğinin sebep olduğu ölümcül bir hastalıktır. Hastalığın patogenezinde hücreler içinde yıkılamayan aşırı glikojen birikimi rol oynar. Glikojenin aşırı birikim birçok hücrede olmasına rağmen klinik bulgular başlıca iskelet ve kalp kası tutulumuna sınırlıdır. Bu nedenle yaygın miyopati, kardiyomiyopati ve solunum kaslarının güçsüzlüğü nedeniyle erken süt çocukluğu döneminde ölüme yol açabilen ilerleyici bir hastalıktır. Biz de, solunum kasları tutulumu ile birlikte, EKG'de kısa PR aralığı, uzun QRS, biventriküler hipertrofi bulguları ve ekokardiyografide belirgin hipertrofik kardiyomiyopatisi olan üç olguyu sunmayı amaçladık. Anahtar kelimeler: Çocuk; hipertrofik kardiyomiyopati; pompe hastalığı.

Özet Kliniğimizde yapılan tanısal ve girişimsel işlemlerin karşılaştırılması ve girişimsel işlemlerin sayısının ve çeşitliliğinin artışının değerlendirilmesi amaçlandı. Kliniğimizde Temmuz 2003 ile Mayıs 2011 tarihleri arasında tanısal amaçlı ve girişimsel işlem yapılan 1989 hastanın sonuçları dosyaları incelenerek değerlendirildi. Hastaların 1036'sı kız (% 52), 953'ü erkek (%48) idi. 998 hastaya (%50.2) tanısal, 991 hastaya (%49.8) girişimsel işlem uygulanmış olduğu saptandı. Yapılan girişimsel işlemler sırasıyla; patent duktus arteriozusu olan 321 hastaya (%16.1) cihazla kapatma, atriyal septal defekti olan 210 hastaya (%10.6) transkateter ile kapatma, pulmoner darlığı olan 146 hastaya (%7.3) pulmoner balon valvuloplasti, aort koarktasyonu olan 50 hastaya (%2.5) koarktasyon anjiyoplasti, perikardiyal efüzyonu olan 45 hastaya (%2.3) perikardiyosentez, valvuler aort darlığı olan 42 hastaya (%2.1) aort balon valvuloplasti, akkiz veya doğumsal nedenlere bağlı 3. derece atriyoventriküler bloğu ve/veya sinüs nod disfonksiyonu olan 40 hastaya (%2) transvenöz kalıcı ve 33 hastaya (%1.6) ise geçici pil takılması işlemi uygulandığı saptandı. Ayrıca perimembranöz ve/veya musküler ventriküler septal defekti (VSD) olan 29'una (%1.5) transkateterle VSD kapatma ve aort koarktasyonu olan 14'üne (%0.7) koarktasyona stent implantasyonu uygulanmış olduğu saptandı. 2003 yılında 2 hastaya, 2004'te 4 hastaya ve 2005'te 31 hastaya girişimsel işlem yapılmışken, 2009 yılında çocuk kardiyolojisine ait anjiyografi ünitesinin açılması ile 2009'da 234 hastaya, 2010'da ise 439 hastaya girişimsel işlem uygulandı. Görüldüğü üzere seneler içinde girişimsel işlemlerin sayı ve çeşitliliği, anjiyo ünitesine sahip olmamız ve kazanmış olduğumuz tecrübeyle birlikte artmıştır. Girişimsel tedavi tekniklerinin ilerlemesi, yeni geliştirilen cihazların kullanıma girmesiyle tanısal amaçlı anjiyografi çalışmaları giderek azalmakta, bunun yerini girişimsel işlemler almaktadır.