Supravalvular aortic stenosis and coronary ostial stenosis in homozygous familial hypercholesterolemia.

Patients with homozygous familial hypercholesterolemia exhibit severe hypercholesterolemia, cutaneous and tendon xanthomata, and premature atherosclerosis from childhood. A rare presentation of this condition with supravalvular aortic stenosis and coronary ostial stenosis is described.

Prevalence of left atrial thrombus in rheumatic mitral stenosis with atrial fibrillation and its response to anticoagulation: a transesophageal echocardiographic study.

BACKGROUND: The frequency of occurrence of left atrial thrombi, and the effect of anticoagulation in patients with rheumatic mitral stenosis and atrial fibrillation is not well established. This study was conducted to evaluate the occurrence of left atrial body and left atrial appendage clots in patients with rheumatic mitral stenosis and atrial fibrillation, and to document the effect of long-term anticoagulation on clot dissolution. METHODS AND RESULTS: Consecutive patients with severe rheumatic mitral stenosis and atrial fibrillation were assessed by transesophageal echocardiography. Those with left atrial body or left atrial appendage clots were anticoagulated with oral nicoumalone. Transesophageal echocardiography was then repeated in patients on anticoagulation who were on regular follow-up, and in whom percutaneous transvenous mitral commissurotomy could be considered. Of the 490 patients studied, 163 had left atrial body or left atrial appendage clots. A repeat transesophageal echocardiographic examination was done in 50 patients who had optimal anticoagulation for a period of 6 months. Only 2 of the 17 patients who had left atrial body clots had successful clot dissolution after long-term anticoagulation, while the left atrial appendage clots disappeared in 31 of 33 patients (p<0.001). CONCLUSIONS: Left atrial clots are present in a third of patients with severe rheumatic mitral stenosis and atrial fibrillation. Isolated left atrial appendage clots in patients with rheumatic mitral stenosis and atrial fibrillation can disappear with long-term anticoagulation, while thrombi that extend into the left atrial body may persist despite optimal anticoagulation.

Unexpected presentations--four cases of lead poisoning.

OBJECTIVE: To describe the clinical presentation and response to treatment of four patients who presented with abdominal pain and were diagnosed to have lead poisoning. METHODS: After ruling out the more obvious causes of abdominal pain by barium studies, gastrointestinal endoscopies, and biochemical studies, blood lead levels were estimated by atomic absorption spectrophotometry. The patients were treated with oral d-penicillamine. RESULTS: The four patients had blood lead levels from 79 microg/dL to 365 microg/dL. All four of them showed marked improvement in their clinical condition and lowering of blood lead levels on follow up. CONCLUSIONS: Clinicians need to develop a high index of suspicion of lead poisoning as a possible cause of unexplained abdominal pain or altered sensorium, especially against a background of environmental lead contamination in India.