1/37. Sudden death due to ventricular septal defect.Ventricular septal defects (VSD) are usually considered non-life-threatening, usually closing spontaneously or causing symptoms of congestive heart failure, which can be surgically treated in time to save the patient's life. Despite the usually benign clinical course of VSD, serious arrhythmias occur in 16-31% of patients. Sudden death accounted for one-third of all deaths in a series of medically managed patients and occurred in 4.2% of patients in a study of VSD and arrhythmias. Cardiac hypertrophy is the common denominator in all cases reported in detail of VSD-associated sudden death. We have encountered four cases of sudden unexpected death from VSD in infants ranging in age from 1 week to 3 and (1/2) months. In each case there was cardiomegaly and in one case there was pulmonary arteriolar medial thickening, with extension of smooth muscle into small intralobular vessels. In half of our cases the attending physician was sued for malpractice. We believe that VSD in infants and young children are potentially life-threatening malformations which warrant careful clinical follow-up.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/37. A novel deficiency of mitochondrial ATPase of nuclear origin.We report a new type of fatal mitochondrial disorder caused by selective deficiency of mitochondrial ATP synthase (ATPase). A hypotrophic newborn from a consanguineous marriage presented severe lactic acidosis, cardiomegaly and hepatomegaly and died from heart failure after 2 days. The activity of oligomycin-sensitive ATPase was only 31-34% of the control, both in muscle and heart, but the activities of cytochrome c oxidase, citrate synthase and pyruvate dehydrogenase were normal. Electrophoretic and western blot analysis revealed selective reduction of ATPase complex but normal levels of the respiratory chain complexes I, III and IV. The same selective deficiency of ATPase was found in cultured skin fibroblasts which showed similar decreases in ATPase content, ATPase hydrolytic activity and level of substrate-dependent ATP synthesis (20-25, 18 and 29-33% of the control, respectively). pulse-chase labelling of patient fibroblasts revealed low incorporation of [(35)S]methionine into assembled ATPase complexes, but increased incorporation into immunoprecipitated ATPase subunit beta, which had a very short half-life. In contrast, no difference was found in the size and subunit composition of the assembled and newly produced ATPase complex. Transmitochondrial cybrids prepared from enucleated fibroblasts of the patient and rho degrees cells derived from 143B. TK(-)human osteosarcoma cells fully restored the ATPase activity, ATP synthesis and ATPase content, when compared with control cybrids. Likewise, the pattern of [(35)S]methionine labelling of ATPase was found to be normal in patient cybrids. We conclude that the generalized deficiency of mitochondrial ATPase described is of nuclear origin and is caused by altered biosynthesis of the enzyme.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
3/37. cor triatriatum in adults: three new cases and a brief review.We report 3 cases of cor triatriatum that were diagnosed late, in the 4th and 5th decades of life. The presentations of these 2 men and 1 woman varied substantially, both in anatomic and symptomatic aspects. The woman had an associated complex congenital anomaly, which is not uncommon in cases of cor triatriatum. We present our cases, along with a review of this rare congenital cardiac anomaly.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
4/37. pH-dependent fibrillogenesis of a VkappaIII bence jones protein.Disorders of immunoglobulin (Ig) synthesis that occur in malignant plasma-cell proliferation may result in either granular (LCDD) or fibrillar (AL) tissue deposition of light-chain monoclonal components. The structural features that govern the transition from soluble polypeptides to either fibrillar or granular conformational states remain undefined. Among the many factors presumed to play a role in these transitions the net charge of the molecule has been associated with folding conformation changes. The majority of the proteins involved in AL amyloidosis show acidic isoelectric points (pI 3.8-5.2), whereas most L chains with basic pIs deposit in granular patterns. In our studies a 12 kD VkappaIII fragment was purified as the main component of the fibrils isolated from myocardium and adipose tissue of the pericardium obtained post-mortem from an individual with systemic AL amyloidosis. An apparently identical 12 kD VL fragment with the same N-terminal sequence constituted the BJ protein present in the urine. This urinary protein exhibited strikingly cathodic electrophoretic mobility on agarose gels and lacked retention by anionic exchange chromatography matrices, indicative of a highly basic pI (>10). When it was subjected to in vitro fibril-formation experiments, the BJ protein adopted a fibrillar conformation only at acidic pHs, remaining aggregated but not fibrillar at physiological pH. The data indicate that a specific tissue deposition pattern involves not only structural properties of the protein but rather more complex mechanisms in which acidic micro-environments may contribute to the stabilization of amyloidogenic conformations.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
5/37. Gerbode's defect--a rare type of ventricular septal defect.We report on an elderly lady in the sixth decade of life with congenital Gerbode's defect who refused surgery. She has atrial fibrillation, massive cardiomegaly and repeated episodes of lower respiratory tract infection.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
6/37. Bilateral cystic adenomatoid lung malformation type III--a rare differential diagnosis of pulmonary hypertension in neonates.Congenital cystic adenomatoid lung malformation (CCAM) is a rare disorder characterized by replacement of normal pulmonary tissue with cysts of variable size and distribution. Only sporadic cases of CCAM type III have been described that were stillborn or died in the early neonatal period. To our best knowledge we report the first infant with bilateral CCAM type III that was not ventilator-dependent for the first 10 weeks of life and survived until the age of 5 months. Postnatally the newborn presented with signs of only mild respiratory distress and chest radiograph did not show evidence of cystic lesions. In the following weeks the major clinical symptom was persistent pulmonary hypertension with severe tachypnea, O2 requirement and CO2 retention. Pulmonary hypertension did not respond to HFOV ventilation, NO ventilation or prostacyclin inhalations. CONCLUSIONS: (1) Persistent pulmonary hypertension can be a major clinical feature in neonates with bilateral CCAM type III. (2) A normal chest X-ray does not exclude the possibility of bilateral type III CCAM. (3) Computerized tomography appears to be superior to conventional chest X-ray imaging in detection of small cystic lesions in infants with CCAM type III. (4) In cases of prenatally suspected CCAM type III, parents should be informed that short-term survival is possible.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
7/37. A rare case of alstrom syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography.alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, and obesity; with diabetes, and hepatic and renal dysfunction later on in life. Since the first description of the syndrome in 1959, there have been fewer than 100 reported cases in the world. We report a case of a 7-month-old girl whose initial presentation of alstrom syndrome was a rapidly progressive severe dilated cardiomyopathy, diagnosed by echocardiography. Unique characteristics of the cardiomyopathy in alstrom syndrome and the important role of echocardiography in alstrom syndrome and other genetically transmitted disorders, especially with known cardiovascular manifestations, is discussed.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
8/37. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.The carbohydrate-deficient glycoprotein (CDG) syndrome in its most severe form (neonatal olivopontocerebellar atrophy) is a life-threatening multisystem disease. We report a neonate who was referred for cardiological assessment because of respiratory distress, a murmur and episodes of desaturation. After initial spontaneous improvement he presented at 9 weeks with evidence of a severe hypertrophic obstructive cardiomyopathy (HOCM). The diagnosis of CDG syndrome was suggested by the characteristic dysmorphic features, hypotonia, visual inattention and severe failure to thrive; it was confirmed by electrophoresis of serum transferrin. HOCM can be a feature of the CDG syndrome, in addition to the (previously reported) pericardial effusions.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
9/37. Cardiopulmonary complications in multicentric reticulohistiocytosis. Report of a case.Multicentric reticulohistiocytosis (MR) is a rare disease. Only recently was its systemic nature appreciated. It affects the skin, mucous membranes, joints, muscles, tendon sheaths, synovial membranes, bones, liver, kidney, lymph nodes, heart, and lungs. Our patient, a 50-year-old woman, had life-threatening cardiopulmonary complications of MR. The connection between the skin lesions, the arthritis, and the pathologic changes in the heart and lungs is still obscure.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
10/37. situs inversus, subaortic and subpulmonic stenosis, ventricular septal defect, and single coronary artery.The unusual occurrence of situs inversus totalis, ventricular septal defect, hypertrophic subaortic and subpulmonic stenosis, and single coronary artery in a 38-year-old man is presented. The clinical course was remarkably mild, as documented by data from 23 years of study including four cardiac catheterizations. At age 35 years, however, syncope, chest pain, and marked elevation of right ventricular pressure prompted complete surgical repair of the left and right ventricular outflow tract obstructions and closure of the septal defect. Three years after surgery the patient continues to lead an active life without symptoms. The unusually mild course can be attributed to the natural banding effects of the subpulmonic stenosis which prevented irreversible pulmonary hypertension.- - - - - - - - - - ranking = 0.33333333333333keywords = life (Clic here for more details about this article) |
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