Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have developed a new method of computer image processing that allows true three-dimensional (3-D) images of the heart and great vessels to be reconstructed from standard ECG-gated two-dimensional magnetic resonance (MR) images. Contiguous 5-mm thick MR images of the thorax from the level of the cardiac apex to the aortic arch were obtained in 4 normal volunteers and 3 patients with congenital heart disease: 1 with pseudotruncus arteriosus and 1 with a ventricular septal defect, each with Eisenmenger's complex, and 1 with aortic coarctation. Each image could be obtained at up to seven different intervals throughout the cardiac cycle with ECG gating. The scanning procedure is noninvasive and requires no contrast material. Using standard software, images from each interval in the cardiac cycle were edited to isolate pertinent cardiac and great vessel structures. High-resolution 3-D reconstructions were formed for each interval by stacking the edited images. Sequential projection of 3-D reconstructions from each interval yields four-dimensional (includes time) cine views. Both 3-D and cine views can be obtained from any axis or divided in any plane to allow accurate, noninvasive assessment of cardiac and great vessel anatomy, chamber volumes, and regional and global wall motion. Noninvasive 3-D reconstruction of the heart and great vessels provides accurate anatomical data not available from standard cardiac catheterization or other noninvasive diagnostic procedures, and aids in the preoperative planning of the procedure to correct complex congenital malformations.
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PMID:Noninvasive three-dimensional reconstruction of the heart and great vessels by ECG-gated magnetic resonance imaging: a new diagnostic modality. 336 41

Barium esophagrams were obtained in two patients with respiratory problems whose underlying congenital heart disease was pseudotruncus arteriosus type I. The esophagrams revealed vascular indentations on the esophagus, one posteriorly, and the other anteriorly. Both types of indentations were secondary to aorto-pulmonary communicating arteries from the descending aorta.
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PMID:Systemic arterial collateral esophageal indentations in pseudotruncus arteriosus. 764

Hypoplastic right heart syndrome is a rare cyanotic congenital heart disease with under-development of the right ventricle, tricuspid, and pulmonary valves leading to right-to-left shunting of the blood through inter-atrial septal defect. Perinatal mortality is high with very few patients surviving to adulthood without corrective surgery. This report describes a 26-year-old young woman, who had recurrent abortions and stillbirths and detected to have marked cyanosis with hypoplastic right heart, sub-arterial ventricular septal defect, absent pulmonary valve, non-compaction of the left ventricle, and bicuspid aortic valve with aortic regurgitation. The patient died owing to progressive heart failure 4 years after the diagnosis was made.
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PMID:Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult. 2775 Dec 99

Hypoplastic right heart syndrome(HRHS) is characterized by hypoplastic right ventricle (RV); Numerous transcriptional cascades in the second heart field (SHF) regulate RVdevelopment. The relationship of SHF gene variants with human HRHS remains unknown. The whole lengths of 17 SHF genes were sequenced in 16 HRHS, and the selected single-nucleotide variants (SNVs) were then genotyped in HRHS, other congenital heart disease (CHD) and healthy control. Luciferase assay was performed to verify the effect of FOXC2: rs34221221A>GandTBX20: rs59854940C>Gat the transcription level. There were 151 (12.86%) novel SNVs after sequence analysis, of which three were in exons (one was synonymous SNV and two were nonsynonymous SNVs), two in promoter, and most SNVs (89.95%) were in intronic regions. Genotype analyses revealed that the minor alleles of FOXC2: rs34221221 A>G and TBX20: rs59854940 C>G could increase HRHS risk (P<0.05), but not in other CHD or healthy control. Luciferase assay showed that the minor G allele in rs34221221 significantly increased FOXC2 transcription while in rs59854940 it decreased TBX20 transcription significantly. Novel variants of SHF gene associated with HRHS were identified. Minor alleles in two variants from FOXC2 and TBX20 could increase the risk of HRHS.
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PMID:Minor alleles of genetic variants in second heart field increase the risk of hypoplastic right heart syndrome. 3120 5