Impaired cardiorespiratory response to brief sudden strenuous exercise in the postoperative tetralogy of fallot patients: a ten-second pedaling test.

No studies of cardiorespiratory response to brief, sudden, strenuous exercise in patients after tetralogy of Fallot (TOF) repair have been reported. We investigated the exercise capacity of TOF patients using a ten-second pedaling test designed to study cardiorespiratory responsiveness to brief, sudden, strenuous exercise. We assessed exercise capacity using a ten-second pedaling test (ten seconds maximal of voluntary cranking as fast as possible against an ergometer's inertial resistance), coupled with a conventional ramp-type progressive exercise test at a constant rate to the limit of tolerance, in eight male postoperative TOF patients and eight male control subjects. In the ten-second pedaling test, there were no significant differences in the integrated areas of heart rate (HR) and oxygen uptake () responses between the TOF patients and controls, but there were significantly longer decreasing phase time constants of HR and responses in the TOF patients than in the controls. In the conventional exercise test, the endurance time, peak-HR, and peak- did not differ between the groups. The TOF group, with a normal exercise capacity assessed by a conventional exercise test, had an impaired cardiorespiratory response to brief, sudden, strenuous exercise assessed by a ten-second pedaling test.

[Isoproterenol stress test for the evaluation of the residual stenosis of the right ventricular outflow tract].

Hemodynamic changes of the right side of the heart during isoproterenol stress test were assessed and analyzed in 36 patients who underwent definitive repair of tetralogy of Fallot or double outlet right ventricle with pulmonary stenosis. Patients having atresia of the pulmonary artery were excluded from the study. 24 of the patients had previously undergone reconstruction of the right ventricular outflow tract (RVOT) with preserving the pulmonary valvar annulus (group N), whilst the remaining 12 patients had undergone transannular enlargement of RVOT with a patch (group T). Preservation of the pulmonary valvar annulus was determined when the intra-operative measurement of diameter of the pulmonary valvar annulus showed values greater than 90% of normal. In both groups, the isoproterenol infusion increased the right to left ventricular peak pressure (RVP/LVP) ratio, pressure gradient between the right ventricle and main pulmonary artery (RV-mPAP), and pressure gradient between the main pulmonary artery and peripheral pulmonary artery (m-pPAP). These values were significantly higher than those measured at rest. When comparisons were made between groups, RV-mPAP of group N was significantly higher than that of group T, both at rest and during stress test. By contrast, m-pPAP of group T was significantly higher than that of group N, both at rest and during stress test. Although no significant difference was found between the groups in RVP/LVP at rest and during stress test, RVP/LVP of both groups increased to the level of more than 0.6 after the isoproterenol infusion. These results led us to conclude that preservation of the pulmonary valvar annulus was better to be applied only to the patients who fulfilled our criterions. Additionally, in the setting of patch reconstruction of the pulmonary artery, every effort should be made so as not to leave the residual stenosis of the peripheral pulmonary artery.

Frequent association of 22q11.2 deletion with tetralogy of Fallot.

Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q11.2 deletion in TOF, a series of 212 Japanese TOF patients was studied. The type of pulmonary blood supply, which may lead to various clinical outcomes, and other additional anomalies were evaluated clinically. The 22q11.2 deletion was diagnosed by fluorescence in situ hybridization with N25 and TUPLE1 probes. Of the 212 patients examined, 28 (13%) had a 22q11.2 deletion, the frequency being higher than that in TOF patients with trisomy 21. The prevalence of the deletion in TOF patients with pulmonary atresia (PA) plus major aortico-pulmonary collateral arteries (MAPCA) was significantly higher than the value in patients with PA plus patent ductus arteriosus (PDA) (P = 0.04) or with pulmonary stenosis (PS) (P < 0.0001). All 28 patients with 22q11.2 deletion had one or more extracardiac abnormalities. Four of 9 patients with the 22q11.2 deletion and TOF-PA-MAPCA suffered from bronchomalacia, while none of 19 patients with TOF-PA-PDA or TOF-PS manifested bronchomalacia (P = 0.006). These results indicate that 22q11.2 deletion is the most frequent cause of syndromic TOF, especially for TOF-PA-MAPCA, and bronchomalacia is the clinically most important associated anomaly in TOF-PA-MAPCA patients.

Ventricular septal defect associated with microdeletions of chromosome 22q11.2.

Microdeletions of chromosome 22q11.2 (del.22q11) cause DiGeorge syndrome, velo-cardio-facial syndrome, and conotruncal anomaly face syndrome, which are commonly associated with conotruncal heart anomalies. Approximately 15% of the patients manifest ventricular septal defect (VSD), and the conal septal type of VSD has been proposed to be associated with del.22q11, since it is categorized as a conotruncal anomaly. However, the types of VSD associated with del.22q11 remain poorly studied. The purpose of this study is to assess whether conal septal VSD or other types of VSDs are associated with del.22q11. We analyzed the chromosomes of 22 consecutive patients with conal-septal VSD, prospectively, and evaluated the types of VSD observed in 3 patients with del.22q11, retrospectively. Del.22q11 was not detected in any of the 22 patients with conal septal VSD. All the VSDs observed in the 3 patients with del.22q11 were a perimembranous type of VSD, which is not a conotruncal anomaly. Our results suggest that perimembranous VSD can be associated with del.22q11, but del.22q11 is not a common cause of conal-septal VSD.