1/6. Isolated noncompaction of the myocardium: multiplane transesophageal echocardiography diagnosis in an adult.We describe a case of isolated noncompaction of the myocardium in a 66-year-old patient. Peculiar anatomic features of this disease were clearly suspected on transthoracic echocardiography and precisely recognized through transesophageal echocardiography. The role of transthoracic and transesophageal echocardiography in the detection of this rare disease is described in this report.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/6. aortic valve replacement in cardiac ochronosis.Two patients with generalized ochronosis developed cardiovascular symptoms related to cardiac ochronosis with aortic valvular stenosis. One patient with a transvalvular pressure gradient of 150 mm Hg underwent emergency aortic valve replacement. The other patient with a transvalvular pressure gradient of 96 mm Hg underwent successful elective aortic valve replacement. Cardiac ochronosis is a rare disease that might be encountered, with the typical signs, during an elective, planned cardiac operation. The most frequent presenting feature of this disease seems to be aortic valvular stenosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/6. diagnosis of Anderson-Fabry's disease in over seventy-year-old women: description of two cases.Anderson-Fabry's disease (AFD) is a rare inborn X-linked sphingolipid storage disorder. Deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GAL-A) leads to progressive accumulation of glycosphingolipids within most visceral tissues and body fluids of affected patients, provoking a clinical syndrome that includes nervous system, renal, cardiac, ophthalmologic and cutaneous manifestations. Also heterozygous women, who had been considered as healthy carriers until recently, often demonstrate clinical signs of multi-organ involvement. In older women these manifestations are frequently attributed to other more common conditions of older age, and a genetic disorder is rarely hypothesized. We report the cases of two elderly women, who had been diagnosed with AFD at the ages of 70 and 74. Although it is a rare disease, AFD should be considered as a diagnostic hypothesis in women with a clinical history of cardiomyopathy and vascular encephalopathy, appearing at ages 40-50 without identification of major vascular risk factors.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/6. Sarcoid heart disease.Myocardial sarcoidosis is not a rare disease in the UK and it is still probably under-diagnosed. A high index of suspicion in necessary for diagnosis of myocardial sarcoidosis, which should be thought of in any unusual form of heart disease for which there is no adequate explanation, particularly if there are serious rhythm changes or unexplained heart failure. Mitral systolic murmurs occur frequently. Histological proof of the aetiology should be sought. The heart is frequently massively involved when other organs have little involvement. Most of these patients present with cardiac symptoms or signs and the high incidence of sudden death is disturbing. The high rate of occurrence in East Anglia is noted, and merits further study. Treatment should be energetic where indicated--but its effects are difficult to assess. This study, representing the largest single source of information on this topic, continues in the hope of shedding more light on a sinister disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/6. A cardiac giant hydatid cyst of the interventricular septum masquerading as ischemic heart disease: role of MR imaging.Cardiac echinococcosis is a very rare disease, especially in girls. We report a case of interventricular septum echinococcosis. A 14-year-old girl was referred for chest pain. magnetic resonance imaging and two-dimensional echocardiography revealed a cyst in the distal interventricular septum. We concluded that MR imaging is useful in diagnosis and planning of surgery. Cardiac hydatid cyst should be considered in the differential diagnosis of patients with anginalike pain in endemic areas.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/6. Cardiac hydatid cyst in a child.Cardiac hydatid cyst is a rare disease, especially in children. An 11-year-old boy with a previous anaphylactic reaction and episodes of abdominal pain was admitted for workup of an acquired long systolic murmur. Echocardiographic investigation disclosed a tumor of the right ventricular anterior wall, with multiple loculations. magnetic resonance imaging characterized it as a multilobular tumor with cyst formation and disclosed another cyst in the right pulmonary artery. With a positive ELISA reaction the child was admitted for surgery with the diagnosis of cardiac and pulmonary hydatid cysts. Cardiac surgery was performed with good results, followed by medical treatment with albendazole.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |