Gül Saylam

Clinical and morphological phenotype of geleophysic dysplasia

Abstract Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive course. A 9-year-old Turkish boy born to consanguineous parents with findings typical of GD is reported. Cardiac abnormalities included mitral and aortic stenosis with aortic insufficiency. There was persistent hypo-uricacidaemia, severe pulmonary hypertension and tricuspid insufficiency. He required aortic and mitral valve replacement but, unfortunately, died of a severe pulmonary infection in the post-operative period. The condition has to be differentiated from lysosomal storage disorders such as mucopolysaccharidosis.

Dilated Cardiomyopathy as the First Early Complication in a 14 Year-Old Girl with Diabetes Mellitus Type 1

Diabetic cardiomyopathy (DC) has been reported in type 2 diabetics with short duration of clinically overt diabetes. Impaired left ventricular function has been reported in young patients with diabetes mellitus type 1 (IDDM), but severe cardiomyopathy as the first early major complication of IDDM is very rare. We report a 14 year-old girl with a 5-year history of IDDM and very poor compliance with treatment and follow-up. She was referred to our clinic upon the development of congestive heart failure and dilated cardiomyopathy was diagnosed based on clinical findings, electrocardiogram, chest X-ray and echocardiography. She had no evidence of other major complications of IDDM such as retinopathy, nephropathy or neuropathy.

Can ambulatory blood pressure monitoring detect early diastolic dysfunction in children with type 1 diabetes mellitus: correlations with B‐type natriuretic peptide and tissue Doppler findings

To evaluate the relationship between 24‐h blood pressure (BP) measurements and diastolic heart function evaluated by Doppler tissue imaging and B‐type natriuretic peptide (BNP) levels in children with type 1 diabetes mellitus (DM).

Takayasu’s arteritis with bilateral renal artery stenosis: Unilateral kissing balloon angioplasty

Takayasu’s arteritis is a systemic non-specific vasculitis artery and bilateral stenosis at main renal arteries (Fig. 1). In primarily affecting the walls of large vessels. Renal arterial stenosis may be bilateral and usually seen with coexisting aortic involvement [1]. Percutaneous transluminal renal balloon angioplasty (PTRBA) is successful in up to 90% of cases and blood pressure control is achieved in approximately 68%. PTRA alone or supported with stent implantation has also been helpful in patients with suboptimal results after PTRBA and for managing recurrent restenosis [2]. Renal arterial bifurcational stenosis can be dilated by the kissing balloons technique, thus rendering difficult vascular surgery unnecessary [3]. In this article, a case with Takayasu arteritis that received the kissing balloon technique for a bifurcational renal artery stenosis was reported. An eleven-year-old girl was admitted to our clinic with complaints of malaise, headache, and exercise intolerance and diminished weight gain since she was four. Her physical examination showed right arm blood pressure of 110/70 mmHg, right leg blood pressure of 230/110 mm Hg. Her left radial, brachial and carotid pulses were not palpable and the pulses that belong to the lower extremities were palpable bilaterally. All laboratory findings were normal. Angiographic examination revealed narrowing of the right subclavian artery, bilateral carotid arteries, total occlusion of the left subclavian artery, normal left and right coronary arteries and minimal aortic insufficiency (Fig. 1). There was no stenosis at the pulmonary arteries. Aortography showed a bifurcational stenosis at an upper segment of the right renal

Surgical treatment of cor triatriatum, ventricular septal defect in an infant with a giant omphalocele

Cor triatriatum is a rare cardiac anomaly characterized by a membrane in the left atrium that separates the atrium into the proximal and distal chambers. Herein, we describe an unusual case of cor triatriatum combined with a ventricular septal defect in a newborn infant with a giant omphalocele and underwent a successful cardiac surgical repair. In this abnormality, there is a high incidence of associated congenital abnormalities; but to the best of our knowledge, this is the first time that a combination of cor triatriatum and omphalocele has been reported in the literature.

Adenotonsiller Hipertrofili Çocuklarda Operasyon Öncesi ve Sonrası Kardiyak ve Pulmoner Fonksiyonların Değerlendirilmesi

Amac: Ust solunum yolu obstruksiyonu, cocuklarda cogu geri donusumlu olan kardiyak ve pulmoner fonksiyon bozukluklarina yol acabilmektedir. Bu calimada hipertrofik tonsil ve/ veya adenoid nedeniyle ameliyat karari alinan, ust solunum yolu obstruksiyonu olan cocuklarin kardiyak ve pulmoner fonksiyonlarinin degerlendirilmesi amaclanmistir. Yontem: Haziran 2000 - Nisan 2001 tarihleri arasinda Dokuz Eylul Universitesi Tip Fakultesi Kulak Burun Boaz Hastaliklari AD tarafindan izlenen, klinik olarak tonsil ve/veya adenoid hipertrofisi tanisi konulan, bu nedenle ameliyat edilen, 5 ile 12 yaslari arasindaki ust solunum yolu obstruksiyonlu 25 hasta, kardiyak ve pulmoner fonksiyonlar acisindan ameliyat oncesi ve ameliyattan 3 ay sonra degerlendirildi. Bulgular: Olgularin yas ortalamasi 8,1 ± 2,0 yil olup, 14’u (%56) erkek, 11’i (%44) kiz idi. Hicbirinde ameliyat oncesinde klinik olarak kardiyopulmoner sisteme ait herhangi bir patoloji saptanmamistir. Tum olgularda elektrokardiyografi ve telekardiyografi bulgulari normal olarak deerlendirilmistir. Ekokardiyografi ile ameliyat oncesi sag ventrikul preejeksiyon periyodu / sag ventrikul ejeksiyon zamanina orani, sag ventrikul sistolik basinci ve sag ventrikul diyastolik boyutu degerleri, bir olgu haric normal sinirlarda olup, ameliyat sonrasinda bu degerlerde istatistiksel olarak anlamli bir azalma saptanmistir (p=0,001). Ameliyat oncesi %88’inde solunum fonksiyon testlerinde hafif obstruktif bozukluk bulgusu saptanan hastalarin ameliyat sonrasi bu degerleri normale donmustur. Sonuc: Ust solunum yolu obstruksiyonu bulgulari olan cocuklarda pulmoner fonksiyonlardaki obstruktif bozulma, klinik bulgular henuz ortaya cikmadan solunum fonksiyon testleri ile saptanabilir. Bu calismada klinik bulgu vermeyen ancak laboratuvar bulgularla gosterilebilen kardiyopulmoner fonksiyonlardaki degisikliklerin dikten kisa sure sonra normale dondugu gosterilmistir.

Fresh Homografts Obtained Through a National Organ-sharing Programme for Repair of Congenital Heart Disease

Homografts have been used in congenital cardiac surgery for over 30 years. We utilized the resources of a national organsharing programme to obtain fresh homografts and report their use in correcting cardiac pathologies in 20 children between March 2001 and May 2003. In 16 patients, a valved conduit was used to form a connection between the pulmonary ventricle and the pulmonary artery. In three patients, a non-valved aortic conduit was used to form an extracardiac Fontan circulation and in one patient, non-valved pulmonary and aortic conduits were used to repair an infected aortic aneurysm. Three patients died following surgery. Survivors were followed up using echocardiography between 2 and 24 months post-surgery. Results demonstrate that, with the help of a national organ-sharing programme, the use of fresh homograft conduits is feasible in a paediatric patient population with reasonable waiting times.