Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0151744 (myocardial ischemia)
 31,282 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the period March 1992 to January 1993, ten patients with transposition of great arteries (TGV) whose age ranged from 9 days to 8 months and body weight 3.2 to 7.2 kg were operated on using the arterial switch. A single-stage anatomic correction was made in 2 patients with patent arterial duct, 4 with ventricular septal defect (VSD), one with multiple VSD. Three patients with common TGA underwent correction in 2 stages: arterial switch followed prior constriction of the pulmonary artery switch followed prior constriction of the pulmonary artery and subclavian-pulmonary anastomosis. In all cases of single VSD, it was closed with a flap made from the Gore-Tex material. In the whole series of operations, 2 patients died: one being on the operating table due to anesthesiological errors, the other due to coronary blood flow disorder 3 hours after surgery. Six of the 8 discharged patients were followed 3-8 months after surgery. Two patients needed digitalis. No sign of myocardial ischemia was detected in antibody. All the patients were found to have normal left ventricular pump function. These surgeries are the first in our country and so our little experience may be of interest for national specialists.
 ...
PMID:[Anatomic correction of transposition of the great arteries in infants:experience of the first 10 operations]. 814 64

Mutations in the LDL receptor (LDLR) cause familial hypercholesterolaemia (FH) in an autosomal dominant manner. The condition frequently progresses to coronary atherosclerosis. We describe a patient with FH, but without ischaemic heart disease, who had a novel frameshift mutation (327insC) in exon 4 of the LDLR gene. This mutation introduced a premature termination codon (TGA, codon 158). The patient was a 59-year-old man who had presented with hypercholesterolaemia and a plasma total cholesterol (TC) concentration of 12.2 mmol/L at age 44 years. The mutation 327insC in this patient was heterozygous and hypercholesterolaemia was common within his family. Despite taking lipid-lowering medications (probucol and pravastatin) for more than 20 years, his TC concentration hardly fell below 7.8 mmol/L. However, neither the patient nor anyone else in his family developed characteristic symptoms of ischaemic heart disease or xanthoma. This patient was discovered by an intensive mutation survey among 22 unrelated Japanese with FH mainly in the Kanto area of Japan, suggesting a low incidence of the mutation in the area.
 ...
PMID:Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene. 1222 64

Proximal stenosis adjacent to the orifice of one or both coronary arteries may occur after the arterial switch operation (ASO) for d-transposition of the great arteries (d-TGA). Coronary artery stenosis (CAS) often progresses within the first 6 months postoperatively and may result in myocardial ischemia and infarction. Although percutaneous transluminal coronary balloon angioplasty (PCBA) for CAS within 15 months after ASO for d-TGA has been reported, there is no report of PCBA for CAS in the late period after ASO. We present the results of PCBA for CAS of the left coronary artery performed more than 10 years after ASO in an 11-year-old boy and a 14-year-old boy without complication. The stenosis degree improved in both patients from 81 to 45 and 80 to 54 %, respectively. Restenosis did not occur, and the stenosis degree improved to about 25 % late after PCBA. Although the initial effect of PCBA may not be dramatic, it can improve late after PCBA. It was considered that the optimal balloon-reference vessel ratio was about 1.0, to obtain the minimal effective lumen diameter. PCBA for CAS even if performed many years after ASO is feasible without complication. PCBA can also provide delayed improvement late after the procedure.
 ...
PMID:Usefulness of Percutaneous Transluminal Coronary Balloon Angioplasty for the Left Coronary Artery Stenosis 10 Years More Than After Arterial Switch Operation. 2682 93