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Refsum's disease is a polyneuropathy due to a hereditary error in the metabolism of a fatty acid, phytanic acid, usually leading to cardiac failure only at an advanced stage of the disease. The authors report the case of two brothers with Refsum's disease revealed by a heart failure before the clinical stage of the peripheral neuropathy. In the younger brother, the affection started at the age of 22 years by an acute pulmonary oedema which revealed a dilated, hypokinetic myocardiopathy, associated with retinitis pigmentosa, ptosis, anosmia and biological myolysis. The normal plasma concentration of phytanic acid measured several times led to the conclusion of Kearns-Sayre syndrome even if certain aspects were atypical (moderate conduction disorders, no characteristic aspect in the muscle biopsy). Five years later, the older brother, aged 28, presents a dyspnea on effort which leads to the discovery of a hypokinetic, hypertrophic myocardiopathy, slightly dilated, associated with cardiac conduction disorders, retinitis pigmentosa, anosmia and biological myolysis. The plasma concentration of phytanic acid being very high. Refsum's disease was diagnosed and the diagnosis of younger brother was corrected. From the study of these two cases, the characteristics of the cardiac disorders can be specified: the cardiopathy can reveal the disease and correspond to a dilated or hypertrophic myocardiopathy. The diagnosis of the disease can be difficult because the plasma phytanic acid may remain at normal level, thus requiring the assay of the activity of phytanate oxydase. The existence of ophthalmologic signs (retinitis pigmentosa or progressive ophthalmoplegia externa) associated with a myocardiopathy must systematically lead to a search for Refsum's disease, this diagnosis having fundamental therapeutic implications (died, even plasmapheresis).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Refsum's disease. Apropos of 2 cases disclosed by myocardiopathy]. 169 53

We report a 52 year old man, who without previous thoracic trauma, cardiac diseases or cardiovascular risk factors presented after mild epigastric discomfort acute pulmonary oedema. He did not present clinical, electrocardiographic and biochemical manifestation of acute myocardial infarction. He was hospitalized and 15 days later he was sent to our hospital intubated and with assisted respiration. Haemodynamic studies showed severe acute mitral regurgitation and absence of significant obstructing lesions in the coronaries arteries. He was operated few hours after admission. The surgeon found a dysplasic mitral valve and rupture of a head of the posteromedial papillary muscle. The anatomopathological studies discovered mitral myxoid degeneration and ischemic lesion of the papillary muscle. We review the literature of the exclusive infarction of the papillary muscles and their possible relationships with the mitral prolapse syndrome.
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PMID:[Rupture of the mitral posteromedial papillary muscle associated with myxomatous mitral valve]. 262 3

We describe the case of a 54-year-old male who was examined due to light chest pain experienced the previous day. The man was admitted to the cardiology division for the presence of a complete atrioventricular block. On admission the echocardiogram showed a large aortic regurgitation not present two years earlier. Suspecting an aortic dissection we performed a transesophageal echocardiography and a contrast computerized tomography: the two examinations were negative. The next days the patient had two episodes of acute pulmonary edema so he was transferred to the regional reference hospital where an hemodynamic unit and cardiac surgery division were available. There, he repeated a transesophageal echocardiography which was negative. The man had aortic valve replacement without angiography for his very critical condition. The surgeon identified a small aortic dissection, just above the aortic valve plane, which was responsible for valve leaflets prolapse and aortic regurgitation; the hematoma deepened towards the interatrial septum and atrioventricular junction justifying the atrioventricular block. In conclusion, a small aortic dissection can offer an atypical picture, and in this condition even very valuable diagnostic techniques may fail the diagnosis.
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PMID:[Total atrioventricular block as the primary clinical manifestation of undiagnosed aortic dissection]. 749 22

This case report is about a 24-year-old lady, labeled case of ventricular septal defect since birth, who presented with sudden onset of chest pain and palpitation followed by acute pulmonary edema. She was found to have clinical cardiomegaly, biventricular impulse, pansystolic murmur of ventricular septal defect with continuous murmur at the right lower sternal border. Electrocadiogram revealed frequent ventricular premature beat and chest skiagram revealed cardiomegaly with pulmonary venous congestion. Transthoracic color doppler echocardiography revealed ruptured non coronary sinus of valsalva to right ventricle with large left to right shunt, perimembraneous sub aortic ventricular septal defect with left to right shunt and prolapse of right coronary cusp with mild aortic regurgitation and good left ventricular systolic function. She underwent corrective surgery of ruptured sinus of valsalva and ventricular septal defect and aortic valve replacement.
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PMID:Ruptured sinus of Valsalva. 1223 77

A 35 years old second gravida was admitted to our department with acute pulmonary oedema after labor. Echocardiography disclosed an intra-atrial membrane prolapsing through the mitral valve in diastole, with two small orifices creating a mean pressure gradient of 7.9 mm Hg. However the membrane clearly originated away from the mitral valve ring, proximal to the left atrial appendage, consistent with cor triatriatum sinister. Cor triatriatum sinister rarely presents in adulthood and although forward movement of the membrane towards the mitral valve funnel has been described, such a degree of prolapse through the valve has never been reported.
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PMID:An unusual case of cor triatriatum sinister presenting as pulmonary oedema during labor. 2002 43

Atrial myxoma is the most common primary cardiac tumor. Its clinical presentation spreads from asymptomatic incidental mass to serious life-threatening cardiovascular complications. We report the case of a 44-year-old man with evening fever and worsening dyspnea in the last weeks, admitted to our hospital for acute pulmonary edema. The cardiac auscultation was very suspicious for mitral valve stenosis, but the echocardiography revealed a huge atrial mass with a diastolic prolapse into mitral valve orifice causing an extremely high transmitral gradient pressure. Awareness of this uncommon acute presentation of atrial myxoma is necessary for timely diagnosis and prompt surgical intervention.
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PMID:Acute pulmonary edema caused by a giant atrial myxoma. 2376 77