Disease relevance of Tetralogy of Fallot

• Ventricular septal defect was associated with tetralogy of Fallot or double-outlet right ventricle in 3 individuals [1].
• Echocardiography was performed in 62 patients--20 with truncus arteriosus, 14 with tetralogy of Fallot, and 28 with pulmonary atresia with ventricular septal defect [2].
• Of the 412 hearts, 10 (2.4%) contained structural defects (six ventricular septal defects, one atrial septal defect with ventricular septal defect, and one each coarctation, atrioventricular septal defect, and tetralogy of Fallot) [3].
• Recent studies have implicated the Notch signaling pathway in human cardiac development by demonstrating abnormalities of the JAG1 gene as the basis for Alagille syndrome and some cases of isolated tetralogy of Fallot or pulmonic stenosis [4].
• Diagnoses were tetralogy of Fallot in six and L-transposition of the great vessels with ventricular septal defect and pulmonary stenosis in one [5].

Psychiatry related information on Tetralogy of Fallot

• Conservatively estimated for the United States, the economic cost associated with FAS-related growth retardation, surgical repair of organic anomalies (e.g. cleft palate, Tetralogy of Fallot), treatment of sensorineural problems, and mental retardation, is +321 million per year [6].

High impact information on Tetralogy of Fallot

• FOG-2(-/-) embryos die at midgestation with a cardiac defect characterized by a thin ventricular myocardium, common atrioventricular canal, and the tetralogy of Fallot malformation [7].
• Mutations in human NKX2.5 cause a variety of cardiac anomalies and may account for a clinically significant portion of tetralogy of Fallot and idiopathic AV block [1].
• To further characterize the role of NKX2.5 in cardiac morphogenesis, we sought additional mutations in groups of probands with cardiac anomalies and first-degree AV block, idiopathic AV block, or tetralogy of Fallot [1].
• Additionally, no effect could be seen when angiotensin II was applied to right ventricular preparations from infants undergoing reconstructive heart surgery for tetralogy of Fallot [8].
• These differences in the response to isoproterenol infusion in the two series of patients indicated that right ventricular function after corrective surgery for tetralogy of Fallot was well maintained in patients who underwent the new method of operation [9].

Chemical compound and disease context of Tetralogy of Fallot

• Continuous intravenous phenylephrine infusion for treatment of hypoxemic spells in tetralogy of Fallot [10].
• The authors continuously administered prostaglandin E1 (PGE1) iv to 2 infants with tetralogy of Fallot (TOF) and esophageal atresia with tracheoesophageal fistula (TEF) for more than 30 days, and observed side effects which could be attributed to the long-term administration of PGE1 [11].
• Propranolol: the preferred palliation for tetralogy of Fallot [12].
• Hemodynamic effect of isoprenaline and dobutamine immediately after correction of tetralogy of Fallot. Relative importance of inotropic and chronotropic action in supporting cardiac output [13].
• In the first case, the patient had tetralogy of Fallot, the scimitar syndrome, and left ventricular obstruction [14].

Biological context of Tetralogy of Fallot

• Systemic ventricular function in patients with tetralogy of fallot, ventricular septal defect and transposition of the great arteries repaired during infancy [15].
• The high prevalence of atrial septal defect in tetralogy of Fallot is cited as a possible analogy because right ventricular pressure is high and right ventricular compliance is low from birth [16].
• It is concluded that acutely raising systemic vascular resistance in patients with tetralogy of Fallot using phenylephrine infusion has a beneficial effect on systemic arterial oxygen level and might be the medical treatment of choice for protracted hypoxic spells [17].
• The half-time of VO2 response and oxygen deficit was lowest in patients after closure of a ventricular septal defect, whereas children had the most unfavorable VO2 transient kinetics after Fontan operation or with a transannular patch after correction of tetralogy of Fallot [18].
• Normal or near-normal exercise tolerance was observed in the following patient groups: (1) repaired tetralogy of Fallot, (2) uncomplicated I-transposition of the great arteries, and (3) Ebstein's anomaly with atrial septal defect [19].

Anatomical context of Tetralogy of Fallot

• These data indicate that CSE is better than M-mode for recording the RVOT dimensions, ventricular septal defect, and the pulmonary valve in unrepaired patients with tetralogy of Fallot [20].
• The conotruncal anomalies included: 15 transpositions of the great arteries (TGAs) with intact ventricular septum, 44 TGAs with ventricular septal defect, 32 double outlet right ventricle with subpulmonary ventricular septal defect, 10 truncus arteriosus, one double outlet left ventricle, and one tetralogy of Fallot [21].
• We used the pre and postoperative electrocardiograms and postoperative His bundle electrograms from 50 patients an average of 3.8 years following tetralogy of Fallot (TF) and ventricular septal defect (VSD) repair [22].
• Significant increases were found in patients with a ventricular septal defect, tricuspid valve atresia, patent ductus arteriosus, and atrial septal defect but not in those with pulmonary valve stenosis or tetralogy of Fallot [23].
• We report on 15 patients with velo-cardiofacial syndrome who had a severe form of tetralogy of Fallot (pulmonary atresia, ventricular septal defect, and hypoplastic pulmonary arteries) [24].

Gene context of Tetralogy of Fallot

• BACKGROUND: Mutations in NKX2-5 have been found in families showing secundum ASD and atrioventricular (AV) conduction block and in some individuals with tetralogy of Fallot [25].
• Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot [26].
• The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS [27].
• ICAM-1 was significantly present on 81% (P < 0.01) of myocardial tissue samples in the 5 patients with healing-stage acute myocarditis, and on 45% (P < 0.05) in the remaining 6 patients with non-specific cardiomyopathy, compared with 24% in control specimens obtained from right ventricular muscle resected at surgery for tetralogy of Fallot [28].
• We screened the TBX1 gene in 41 patients affected by nonsyndromic CTDs of the DGS/VCFS subtype, principally "atypical" tetralogy of Fallot [29].

Analytical, diagnostic and therapeutic context of Tetralogy of Fallot

• In addition, we examined capabilities of CSE and M-mode echocardiography (M-mode) to record the diagnostic features of tetralogy of Fallot, including RVOT obstruction, aortic overriding, ventricular septal defect, and presence of the pulmonary valve [20].
• However, in the SPECT study, patients with atrial septal defect (n = 9), ventricular septal defect (n = 13), tetralogy of Fallot and double outlet right ventricle (n = 6) showed a characteristic distribution in the plot of RV/LV pressure ratio versus 201Tl RV/LV total count ratio [30].
• Walton Lillehei introduced the technique of cross circulation for the first-ever total corrections of ventricular septal defect, tetralogy of Fallot, and atrioventricular canal [31].
• The first open-heart repairs of ventricular septal defect, atrioventricular communis, and tetralogy of Fallot using extracorporeal circulation by cross-circulation: a 30-year follow-up [32].
• METHODS: In 14 consecutive children with tetralogy of Fallot (2-32 months old), transesophageal pulsed Doppler signals of left upper pulmonary venous flow (PVF) velocity were recorded before and four minutes after 10 micro g x kg(-1) of phenylephrine i.v. Simultaneously, arterial blood gas analysis and hemodynamic measurements were performed [33].

References