Myocardial necrosis and fibrosis is a rare complication of cystic fibrosis (CF) causing sudden and unexpected death in infancy due to cardiac arrest. Characteristic morphological lesions are recognisable postmortem. The 18 CF patients with this complication had varied clinical features including mild pulmonary involvement, early onset severe pancreatic insufficiency, and profound electrocardiogram (ECG) changes. In this group of patients, 5 were deltaF508 homozygotes, 1 was deltaF508/ N1303K and 1 was a deltaF508/M compound heterozygote. A pair of affected siblings (deltaF508 homozygotes) were fully concordant for myocardial involvement and for the general course of the disease. The co-existence of a genetic predisposition to myocardial lesions resulting most probably from severe cystic fibrosis transmembrane (CFTR) genotypes (such as deltaF508/deltaF508, deltaF508/N1303K) and deficiency of certain trophic factors necessary for metabolism of the myocardium, are postulated to cause myocardial complications in CF leading to circulatory failure and early death.
Authors observed five cases of lung arteriovenous malformations in children and young adults. Clinical data and morphological pictures of these lesions were presented.
An 11 year old boy with a right hemithorax deformity and diminished breathing sounds in the right lung was referred to our department, following examination by a physician due to knee pain caused by flat-footedness. He had a history of recurrent viral infections of the upper airways in early childhood since the age of 3 yrs. He has been free of pulmonary complaints. Bronchitis was diagnosed only once. Pregnancy and delivery were normal. In the neonatal and infantile period the boy was in good health. The right hemithorax deformity was diagnosed at 4 yrs of age, but was interpreted as a complication of rachitis.On physical examination, the patient appeared well. He was thin (weight 24 kg, height 134 cm; 25th and below 3rd percentiles, respectively), had a markedly enlarged right hemithorax with a slight reduction of wall CASE FOR DIAGNOSIS. movement, respiratory rate 16 breaths·min -1 , blood pressure 110/70 mmHg, and pulse rate 80 beats·min -1 . Heart sounds were normal. Lung auscultation revealed weakness of breathing sounds over the right lung field. Intensification to percussion was noted over the lower two thirds of the right hemithorax. Clubbing was not observed. In laboratory evaluation and blood gas analysis, no abnormality was found. An electrocardiogram revealed incomplete right bundle branch block. Pulmonary function tests showed forced expiratory volume in one second (FEV1)=74% of predicted value and vital capacity (VC)=77% pred; all other parameters (including residual volume (RV) 132% pred, functional residual capacity (FRC) 106% pred, total lung capacity (TLC) 91% pred, and flow-volume curve) were normal. The patient's exercise activity was normal. A chest radiograph and computed tomography (CT) scan, are shown in figures 1 and 2.Fibrebronchoscopy revealed a small diverticulum (depth 2 mm) at the site of the right ninth segmental bronchus. Bronchial culture was negative. The right bronchographs are shown in figure 3a and b.
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