Dilated cardiomyopathy associated with dystrophic epidermolysis bullosa: role of micronutrient deficiency?

Autosomal recessive dystrophic epidermolysis bullosa (DEB) is a chronic skin disorder characterized by widespread bullous formation, erosions, and scar formation. There have been reports of dilated cardiomyopathy and death in patients with DEB. The pathogenesis of cardiomyopathy in DEB remains uncertain, but some drugs, viral infections, iron loading, micronutrient deficiencies such as selenium and carnitine have been implicated. A 16-year-old boy who was followed-up from birth with the diagnosis of DEB presented with respiratory distress and heart failure symptoms of two-week history and early fatigue within the past year. Etiological evaluation showed a low plasma selenium level. Echocardiographic examination yielded the diagnosis of dilated cardiomyopathy. Findings of viral serology tests and metabolic screening were normal. Selenium replacement and anticongestive treatment were initiated, which led to partial improvement in cardiac functions. The authors draw attention to the possible role of micronutrient deficiency in the development of cardiomyopathy in patients with DEB

Evaluation of non-valvular aortic stenosis cases

Aim: We aimed to determine the morphological and clinical features of non-valvular aortic stenosis cases, who have attended our Pediatric Cardiology Clinic for thelast three years. Material an

FIBRINOLYTIC THERAPY FOR FEMORAL ARTERIAL THROMBOSIS AFTER CARDIAC-CATHETERIZATION IN INFANTS AND CHILDREN

Data on 149 children who underwent retrograde arterial catheterization were studied to assess the frequency of femoral arterial thrombosis, and the safety and efficacy of systemic fibrinolytic therapy for this complication. Fourteen patients (9.4%) who had a pulseless extremity four hours after the catheterization were assumed to have femoral artery thrombosis. Thrombosis complicated patients were divided into two groups. The first group (7 patients) received only heparin treatment, and then 6 of them underwent thrombectomy. In the second group, 2 patients received only streptokinase, and 5 patients received streptokinase after heparin administration. Only 1 patient (who received streptokinase 1000 U/kg/hour after 1000 U/kg bolus) underwent thrombectomy in this group. The success rate was 86% (p<0.05). In another patient who had undergone sclerozan therapy for hemangioma and received streptokinase in the dose the previous patient received, symptoms of intracranial bleeding were noted at the sixth hour of therapy with reversal of the femoral pulses. These findings show that streptokinase is an alternative therapy to thrombectomy in the treatment of catheterization complicated arterial thrombosis. However, it is not as safe as previously mentioned, and must be avoided for the patients who may be at risk of arteriovenous malformation

Transient complete atrioventricular block in a patient with Blackfan-Diamond anemia due to severe hypothyroidism

We report a 14-year-old boy with a previous diagnosis of Blackfan-Diamond anemia (BDA) who presented with the complaint of bradycardia. Electrocardiogram (ECG) showed complete atrioventricular (AV) block with the mean heart rate 51 bpm on admission. Laboratory data revealed endocrine abnormalities and severe hypothyroidism. Soon after chelation and levothyroxine therapy, AV block was disappeared gradually

Repolarization abnormalities in Duchenne-type muscular dystrophy

Objectives: Duchenne-type muscular dystrophy (DMD) is an X-linked recessive inherited disease affecting mainly the skeletal and cardiac muscles. We aimed to seek associations between the incidence of ventricular arrhythmias and corrected QT (QTc) dispersion and its component, corrected JT (JTc) dispersion in patients with DMD

Kawasaki disease: report of 34 cases

Aim: In this study, we present children with Kawasaki disease and compare with the other series of patients reported in Turkey