1/22. A novel form of familial congenital muscular dystrophy in two adolescents.We report on two brothers (the product of first-degree consanguineous marriage; aged 15 and 12 years) who presented with severe hypotonia at birth, proximal muscle weakness associated with delayed motor milestones but normal cognitive function. Investigations (at 4 years of age) revealed mildly elevated serum creatine kinase (CK) levels (300 and 824 IU/l; N < or = 210). Muscle biopsies showed minimal change myopathy, no neurogenic atrophy but remarkable type-1 fibre predominance (up to 85.5%) without fibre-type disproportion. Clinical examination at 12 and 9 years, respectively, showed mild facial weakness and high-arched palate in both patients. The younger sibling also had ptosis but otherwise normal external ocular muscles. They showed symmetric proximal muscle weakness and wasting associated with calf-muscle hypertrophy. They could walk independently. A repeat muscle biopsy showed advanced dystrophic changes in the younger patient at the age of 10 years. Virtually all the remaining fibres were type 1. immunohistochemistry revealed normal expression of the dystrophin-glycoprotein complex (DGC), including dystrophin, beta-dystroglycan, alpha-(adhalin), beta-, gamma-, and delta-sarcoglycan, laminin-alpha2 chain (merosin) and syntrophin. Mild dystrophic features and type-1 fibre predominance (92.5%) were seen in the biopsy of the older patient, whereas immunohistochemistry showed normal expression of the DGC. Both cases also showed clear expression of integrin alpha7 at the muscle fibre surface and in the blood vessels. Three years later, they could still walk, but with difficulty, and the older brother showed enlargement of the tongue and echocardiographic features of left ventricular dilated cardiomyopathy.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/22. Transient left ventricular failure following bilateral lung transplantation for pulmonary hypertension.BACKGROUND: Bilateral lung transplantation is an established therapy for end-stage pulmonary hypertension. Its early postoperative outcome may be biased by various complications resulting in unexpected deterioration of the patient in terms of hemodynamics and blood gases. methods: We have reviewed the early postoperative course of patients who underwent bilateral lung transplantation for pulmonary hypertension at our institution and analyzed all available data, especially hemodynamic measurements, echocardiographic documentation and therapeutical strategies, in those cases where cardiac dysfunction was found to be responsible for clinical deterioration. RESULTS: Three out of 20 lung transplant recipients operated for pulmonary hypertension experienced severe respiratory insufficiency accompanied by hemodynamic decompensation during the first days after surgery. Clinical and laboratory findings together with results of echocardiography and pulmonary artery catheterism helped establish the diagnosis of left ventricular failure. This proved to be transitory, but the response to therapy (inotropic drugs, afterload reduction and eventually prostaglandins) was very variable. Adequately treated, this complication did not preclude the outcome of transplantation by itself. CONCLUSION: Left ventricular failure is a possible complication after lung transplantation for pulmonary hypertension. echocardiography and pulmonary artery catheterism may be useful adjuvant diagnostic tools, beside routine physical examination, chest X-ray, and laboratory analysis. Therapy of this complication must be adapted individually and may be complex.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/22. Evidence for early vessel involvement in the dysfunctional myocardium of Takayasu's arteritis.A 15-year-old girl presented with persistent fevers, night sweats, leukocytosis, an elevated erythrocyte sedimentation rate, and a 13-pound weight loss over 2 months. Duplex Doppler scans, computed tomographic scan, and magnetic resonance imaging studies were suggestive of Takayasu's arteritis. Left ventricular dysfunction occurred during the episode of active disease, and an endomyocardial biopsy demonstrated increased HLA-DR (human leukocyte antigen-DR) on the endothelium and evidence of immune complex deposition in the walls of small vessels. One year later, after treatment with corticosteroids and resolution of clinical symptoms, repeat endomyocardial biopsy revealed focal interstitial fibrosis and persistent immune complex deposition. These results indicate that the inflammatory, vasculitic process affecting the large vessels in Takayasu's arteritis may also involve the endomyocardium and its small vessels resulting in ventricular dysfunction.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
4/22. Twenty-seven-year follow-up of arrhythmogenic right ventricular dysplasia.This case report describes clinical features, especially of surface ECG changes, observed for 27 years in a patient with arrhythmogenic right ventricular dysplasia (ARVD). The course of this patient was characterized by progressive deterioration of right ventricular function and progression of delayed potentials (so-called epsilon waves) following QRS complexes. However, the relation between ventricular arrhythmias and ECG changes or the degree of right ventricular abnormality was difficult to discern.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
5/22. Left ventricular diverticulum associated with Cantrell's syndrome and tetralogy of fallot in an adult.In this report we describe the surgical treatment of a 27-year-old patient with complete Cantrell's syndrome, i.e. multiple ventricular septal defect, left ventricular diverticulum, dextrorotation of the heart, an anterior diaphragmatic defect, and a midline supraumbilical abdominal wall defect with tetralogy of fallot. Resection of the diverticulum was combined with correction of the tetralogy of fallot and thoracoabdominal defects. The postoperative period was uncomplicated. We have have found only one previous report describing resection of the diverticulum combined with correction of Fallot's tetralogy and thoracoabdominal defects in an adult. One-stage repair of these complex anomalies is technically feasible and should be the treatment of choice.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
6/22. Biventricular pacing for successful weaning from extracorporal circulation in an infant with complex tetralogy of fallot.Biventricular pacing therapy is an innovative therapy for improving cardiac output in adult patients with severe heart failure. However, this technique is not yet used in infants with congenital heart disease. We present a six month old infant with tetralogy of fallot and atresia of the left pulmonary artery in which biventricular stimulation led to improved left ventricular function and successful weaning from extracorporeal circulation.- - - - - - - - - - ranking = 4keywords = complex (Clic here for more details about this article) |
7/22. A case of cardiomyopathy induced by premature ventricular complexes.tachycardia-induced cardiomyopathy is a well-known and reversible condition, but the left ventricular dysfunction caused by frequent isolated premature ventricular complexes (PVCs) has been rarely reported. Apparent dilated cardiomyopathy was resolved in a patient after the focal source of PVCs was eliminated by radiofrequency catheter ablation. echocardiography showed progressive improvement of the abnormal wall motion. Frequent PVCs could be the cause of left ventricular dysfunction in a subset of patients with dilated cardiomyopathy and radiofrequency ablation should be the choice of therapy in those patients.- - - - - - - - - - ranking = 5keywords = complex (Clic here for more details about this article) |
8/22. Amplitude of the electrocardiographic QRS complexes during and after severe pulmonary edema.There is recent evidence that anasarca peripheral edema, irrespective of its etiology, attenuates ECG QRS potentials. pulmonary edema (PE) also is thought to cause reduction in the amplitude of QRS complexes. The case reported herein is of a patient with severe PE, hypertension, left ventricular diastolic dysfunction, and no peripheral edema who did not show changes in the QRS complexes with the management of her pulmonary edema. Thus it appears that PE does not attenuate the amplitude of QRS complexes, and alleviation of this condition does not cause augmentation of QRS voltage. This is in contrast to alterations of peripheral edematous states in the setting of congestive heart failure, which result in changes in the QRS amplitude, as shown previously.- - - - - - - - - - ranking = 7keywords = complex (Clic here for more details about this article) |
9/22. Severe coronary artery disease in the absence of supravalvular stenosis in a patient with williams syndrome.williams syndrome is a complex syndrome comprising developmental abnormalities, craniofacial dysmorphic features, and cardiac anomalies. The most common cardiac anomaly is supravalvular aortic stenosis. We report a case of a 6-year-old girl with williams syndrome who presented with decompensated heart failure due to ischemic cardiomyopathy. Her only significant cardiac anomaly was severe stenosis of the left main coronary artery. She subsequently died despite surgical revascularization. Isolated coronary anomalies are rare in williams syndrome but should be considered especially in the presence of heart failure or ischemia.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
10/22. A rare type of alternating bundle branch block in a patient with cardiac sarcoidosis--a case report.The authors report a rare type of alternating bundle branch block observed in a patient with cardiac sarcoidosis. Not only alternation of complete right and left bundle branch block but also narrow QRS complexes were observed on electrocardiogram. The mechanism of these unusual findings is briefly discussed.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
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