Cases reported "Heart Defects, Congenital"

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1/146. A strange complex of diffuse congenital cardiovascular disease and cardiomyopathy, with localised myocardial calcification.

    This unique case is of a man, followed clinically since infancy, who had a ventricular septal defect which closed spontaneously, a small arterial duct, and a minor degree of aortic coarctation, all without obvious symptoms. He later developed progressive cardiac failure which was attributed to some obscure form of congenital cardiomyopathy. He died at the age of 45 years. Necropsy showed a grossly abnormal arrangement of ventricular myocardial fascicles and bands, with absence of the papillary muscles causing tricuspid and mitral regurgitation. The various malformations are considered to be a gross example of a diffuse congenital cardiovascular disease complex, to the best of our knowledge previously undescribed.
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ranking = 1
keywords = cardiomyopathy
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2/146. Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease.

    Alveolar capillary dysplasia (ACD) is a lethal pulmonary disorder found in newborns that is characterized by severe pulmonary hypertension and hypoxemia. We report on the clinical behavior of this disorder in a series of patients and its association with congenital heart disease, especially left heart obstructive disease; we also report a prospective diagnosis of ACD by lung biopsy in a newborn with congenital heart disease, which prevented futile and prolonged medical intervention.
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ranking = 1.6408805537317
keywords = dysplasia
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3/146. Noncompaction of the ventricular myocardium.

    Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy resulting from an arrest in normal endomyocardial embryogenesis. The characteristic echocardiographic findings consist of multiple, prominent myocardial trabeculations and deep intertrabecular recesses communicating with the left ventricular cavity. The disease uniformly affects the left ventricle, with or without concomitant right ventricular involvement, and results in systolic and diastolic ventricular dysfunction and clinical heart failure. Noncompaction was initially described in children. However, recent studies have characterized this disease in the adult population, in whom this process may be more prevalent than currently appreciated. We describe an illustrative case of isolated noncompaction of the ventricular myocardium in a 57-year-old woman with the typical clinical and echocardiographic features of the disease. The literature on the topic is reviewed.
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ranking = 0.2
keywords = cardiomyopathy
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4/146. costello syndrome with decreased glucose tolerance.

    We report a case of costello syndrome, which is an uncommon multisystemic condition with cutaneous manifestations on the palms and soles. In the literature there are 29 cases described, all the studies are published in the genetic literature with a few exceptions. We add a further case associated with impaired glucose tolerance. The diagnostic clinical signs are impressive, and highly characteristic. Cutaneous manifestations are: loose skin of the hands and feet "washer woman's hand", hyperkeratosis palmoplantaris, curly or sparse hair, acanthosis nigricans, papillomata nasi. Coarse, progeroid facial features with a bulbous nose, feeding difficulties in infancy, cardiac involvement with cardiomyopathy or conduction defect, and in our case impaired glucose tolerance also presented. Postnatal growth retardation, mental retardation, and a distinctive friendly personality is characteristic. Hyperextensible fingers with broad distal phalanges and joint contractures were observed, and peroneal hypertonicity required treatment by achilles tendon lengthening. The decreased glucose tolerance is interesting in the view of the acanthosis nigricans. No storage disease and no chromosomal abnormality were observed. Only in one case is a balanced translocation described in the literature.
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ranking = 0.2
keywords = cardiomyopathy
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5/146. The 3C syndrome: evolution of the phenotype and growth hormone deficiency.

    The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.
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ranking = 0.32817611074635
keywords = dysplasia
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6/146. Bronchial casts in children with cardiopathies: the role of pulmonary lymphatic abnormalities.

    Expectoration of bronchial casts, a condition also called plastic bronchitis, is very rare in children. Bronchial casts may be associated with bronchopulmonary diseases associated with mucus hypersecretion, bronchopulmonary bacterial infections, congenital and acquired cardiopathies, or pulmonary lymphatic abnormalities. A classification based on anatomy and pathology has been proposed which identifies an "acellular" group associated with congenital cardiopathies and palliative surgery. We report on 3 cases with bronchial casts associated with cardiopathy. Observations suggest that the formation of bronchial casts may result from lymphatic leakage into the bronchi. The 3 cases on which we report were immunodeficient and had pulmonary lymphatic abnormalities. The bronchial casts contained lymphocytes and lipids, as determined by histologic examination. In the absence of congenital pulmonary or diffuse lymphatic dysplasia associated with cardiopathy, the principal factors resulting in the formation of bronchial casts appear to be surgical trauma to the lymphatic channels surrounding the bronchi, pleural adhesions, and high systemic venous blood pressure. The prognosis for these patients is poor, and possibilities for treatment are limited.
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ranking = 0.32817611074635
keywords = dysplasia
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7/146. Lack of effects of recombinant human growth hormone in a child with a complex cardiovascular malformation and dilated cardiomyopathy.

    Recent studies have suggested the beneficial effects of GH treatment in patients with dilated cardiomyopathy. We have treated with recombinant human growth hormone (rhGH) a 6-year-old female with a complex congenital heart defect (severe tricuspid hypoplasia and malposition of the great arteries), who developed a progressive dilated cardiomyopathy of unknown etiology. rhGH treatment (0,1 U/kg/day, for 3 months) did not improve cardiac function, nor clinical symptoms, although we have no clear explanations for this. However, a trial with rhGH may be offered to children with dilated cardiomyopathy and waiting for heart transplantation.
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ranking = 1.4
keywords = cardiomyopathy
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8/146. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and williams syndrome.

    Supravalvular aortic stenosis may present as an isolated finding or as part of williams syndrome. williams syndrome is a contiguous gene syndrome associated with neurodevelopmental and multisystemic manifestations caused by hemizygous deletion at 7q11.23. We report on the prenatal and histopathological findings in a patient with a chromosome translocation involving the williams syndrome critical region. The initial abnormality on fetal ultrasound was hydrops fetalis detected at 30 weeks and echocardiography showed narrowing of the aorta and the pulmonary arteries. The baby died shortly after delivery and an autopsy revealed diffuse tubular thickening with luminal narrowing of the aorta, aortic branches, and the pulmonary arteries. Histopathology showed dysplasia of the media with reduced elastic content and "cartwheel" arrangement of collagen, elastic, and muscle fascicles. The karyotype was 46,XX,t(6;7)(q27;q11.23). Three signals were detected using the Oncor fluorescent in situ hybridization probe for elastin-williams syndrome (WSCR) suggesting that the break in chromosome 7 is within the elastin-Williams gene. This patient is of special interest because of the prenatal presentation and the chromosomal translocation involving the elastin-williams syndrome locus.
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ranking = 0.32817611074635
keywords = dysplasia
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9/146. Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic outflow obstruction.

    We report a case of a 46,XY male infant with a history of normal amniotic fluid levels who was delivered by elective cesarean section at 38.5 weeks' gestation because of progressive bladder distension, hydroureteronephrosis, and what was thought to be a dilated posterior urethra. The child died at 19 days of age of cardiovascular complications. The autopsy revealed megacystis, bilateral megaureters and pyelocaliectasis, congenital absence of ganglion cells in the bladder wall, renal dysplasia, and a microcolon. No dilation or anatomic obstruction of the posterior urethra was found. These findings strongly suggest the diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome. We discuss the ultrasound findings of in utero bladder distension with hydronephrosis and one of its rare etiologies.
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ranking = 0.32817611074635
keywords = dysplasia
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10/146. Isolated noncompaction of the myocardium: an exceedingly rare cardiomyopathy. A case report.

    Isolated noncompaction of the left ventricular myocardium is a rare cardiac disorder due to an arrest in myocardial morphogenesis. It is characterized by prominent and excessive trabeculation in a ventricular wall segment, with deep intertrabecular spaces perfused from the ventricular cavity. Echocardiographic findings are important clues for the diagnosis. Clinical symptoms include signs of left ventricular systolic dysfunction even to the point of heart failure, ventricular arrhythmias, and embolic events. We describe an adult case in whom the only clinical symptoms were life-threatening ventricular arrhythmias. Transthoracic echocardiography did not contribute to the diagnosis, which was made thanks to left ventricular contrast angiography. Electrophysiological testing induced a fast monomorphic sustained ventricular tachycardia, with hemodynamic impairment, that was refractory to pharmacological treatment, and for this reason a permanent cardioverter-defibrillator was implanted. A subsequently performed transesophageal echocardiographic examination showed a localized, regional increase in left ventricular wall thickness and degree of trabeculation. The causes and electrophysiological mechanisms of arrhythmias in noncompaction are still unknown: grossly irregular branching and connecting of myocardial fascicles in the noncompacted segments, isometric contraction with increased wall stress, and localized coronary perfusion impairment can all induce disorganized or delayed activation and increase the potential for arrhythmias. This is the first reported case of noncompaction in which an implantable defibrillator was used to control life-threatening arrhythmias.
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ranking = 0.8
keywords = cardiomyopathy
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