A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients.

Microdeletions in chromosome 22q11.2 are associated with DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and several other syndromes, collectively referred to as DG/VCF. Non-dysmorphic patients with cardiac defects have also been attributed to deletions in this chromosomal region. In this study 157 consecutively catheterized patients with isolated, non-syndromic cardiac defects, and 25 patients with cardiac defects and additional stigmata (10 of whom were clinically diagnosed as DG/VCF cases prior to chromosome analysis) were analysed by fluorescence in situ hybridization with the DGS-specific probe D0832. Chromosome 22q11.2 deletions were observed only in the ten patients with the clinical diagnosis of DG/VCF. Conclusion In a large unselected cohort of patients with congenital heart disease no association between isolated or non-syndromic heart defects and the 22q11.2 microdeletion was observed. One can conclude that testing for the 22q11.2 microdeletion is clearly indicated in cases when even mild extracardiac abnormalities are present, particularly in very young infants.

Pulsed Doppler echocardiographic assessment of patterns of venous flow after the modified Fontan operation: potential clinical implications.

To assess the effect of a modified Fontan operation on systemic venous blood flow and the hepatic circulation, we compared 11 patients having an atriopulmonary connection and 35 with total cavopulmonary anastomosis. The Doppler echocardiographic study of the caval venous, hepatic venous and portal venous flow was performed so as to calculate the pulsatility ratio and the variation of flow with respiration. All patients had undergone cardiac catheterization. In addition, we included specific laboratory investigations to assess function of various organs. Significantly lower maximum velocities of flow at inspiration (0.31+/-0.12 m/sec vs 0.45+/-0.14 m/sec) and expiration (0.23+/-0.09 m/sec vs 0.32+/-0.11 m/sec), less pulsatility (0.43 vs 0.16) and a lower ratio of systolic to diastolic velocity (1.22 vs 1.85) were found in the patients having a cavopulmonary as compared to an atriopulmonary anastomosis. Peak velocities of hepatic venous flow during inspiration and expiration were significantly lower in those with a cavopulmonary anastomosis (p = 0.001 and p < 0.001, respectively). In these patients, forward flow was extremely dependent on respiration, with decrease or cessation of antegrade flow during expiration in 22 patients. The velocity of portal venous flow was also significantly lower in these patients, although the pulsatility ratio did not differ significantly between the groups (0.5+/-0.21 and 0.57+/-0.23, respectively). The ratio of inspiratory and expiratory velocities showed no significant difference between the groups, nor was there any correlation between the pulsatility ratio of the venous vessels or the ratio of peak flow velocities during expiration and the mean systemic venous/right atrial pressure on postoperative cardiac catheterization. Hypoproteinemia was found in 8 patients after total cavopulmonary anastomosis; 9 of 10 patients with protein C deficiency belonged to this group. The dependence of hepatic venous flow on respiration in the presence of a chronically elevated systemic venous pressure in patients after the total cavopulmonary anastomosis may influence hepatic function in the postoperative period.

Early and late atrial dysrhythmias after modified Fontan operation.

UNLABELLED: Occurrence of supraventricular tachycardia and sinus node dysfunction was investigated pre- and postoperatively by serial ECG and Holter monitors in 63 consecutive patients with univentricular circulation after modified Fontan operation (total cavopulmonary connection 39 patients, atriopulmonary connection 24 patients). Mean age at operation was 7.2 (0.1-20.3) years. Of the 63 patients, 14 (22%) had early (< 14 d) supraventricular tachycardia or sinus node dysfunction, which was not related to the type of operation. None of 9 patients with a preoperative mean right atrial pressure < or = 2.5 mm Hg had early supraventricular tachycardia or sinus node dysfunction in contrast to 16/54 patients (30%) with a preoperative mean right atrial pressure > 2.5 mm Hg. 6/63 patients died during the early (< 14 d) postoperative period. In only 1 child, death was related to a dysrhythmia (junctional ectopic tachycardia). During a mean follow-up of 2.5 years, 15/57 long-term survivors (21%) had late supraventricular tachycardia or sinus node dysfunction. Early supraventricular tachycardia/sinus node dysfunction was a predictor or late atrial dysrhythmias, as it occurred in 8 of the surviving 14 patients with early dysrhythmias in contrast to 4 children without early atrial dysrhythmias (p < or = 0.001). After creation of an atriopulmonary connection, 10/22 patients (45%) had late supraventricular tachycardia/sinus node dysfunction, but only 2/35 patients (6%) with a total cavopulmonary connection had late atrial dysrhythmias (p < 0.001). CONCLUSIONS: Early atrial dysrhythmias after the Fontan operation were related to preoperative hemodynamics. Early supraventricular tachycardia/sinus node dysfunction and the atriopulmonary type of Fontan connection were significant risk factors for late atrial dysrhythmias.

Sotalol associated torsades de pointes tachycardia in a 15-month-old child: successful therapy with magnesium aspartate.

Torsades de points (Tdp) is a form of ventricular tachycardia, and its occurrence in childhood is very rare. In adult patients treated with sotalol, Tdp has been reported to the occur with an incidence of 2%-4%. In children who are treated with sotalol, occurrence of Tdp has been reported in only a single case. A 15-month-old girl with Wolff-Parkinson-White syndrome developed recurrent syncopal attacks. She had been treated with sotalol 1.5 mg/kg daily since shortly after birth because of recurrent episodes of paroxysmal supraventricular tachycardia. ECG monitoring exhibited frequent Tdp tachycardia. Serum electrolyte levels were normal. Echocardiographic analysis excluded a structural heart defect and did not show any signs of myocardial infection. Sotalol treatment was stopped and an infusion with lidocaine was started. Despite this therapy the Tdp continued. Magnesium aspartate was then administered, which immediately stopped the Tdp. As no other reason was evident, Tdp in this child has to be judged as a proarrhythmia related to sotalol therapy.

[Total cavopulmonary anastomosis for definitive palliation of complex univentricular cardiovascular systems--potential preoperative risk factors]. / Totale kavopulmonale Anastomose zur definitiven Palliation komplexer univentrikulärer Kreislaufsysteme--potentielle präoperative Risikofaktoren.

The modified Fontan operation for definitive palliation has been performed in an increasing number of patients with various forms of a functionally univentricular heart. To eliminate the influence of different surgical techniques only patients after total cavopulmonary anastomosis (TCPA) were included in this retrospective analysis of preoperative risk factors. The age at operation in 72 patients varied from 7 to 219 months (median 54 months); 29 patients had been younger than 4 years. Forty-nine patients presented with a complex form of a functionally univentricular heart; associated systemic- or pulmonary venous anomalies were found in 22 patients, AV valve abnormalities in 42 patients with AV valve incompetence in 21 patients. Preoperative hemodynamic data revealed an elevated mean pulmonary artery pressure (> 15 mm Hg), increased pulmonary arteriolar resistance (> 3 U.m2) or end-diastolic ventricular pressure (> 12 mm Hg) in 23 patients. The overall mortality was 9.7% (7/72 patients). Variables with significant influence on postoperative mortality were associated systemic- and pulmonary venous anomalies. AV-valve incompetence and prolonged cardio-pulmonary bypass time. Age at operation, preoperative pulmonary arteriolar resistance, systemic- and pulmonary blood flow did not influence postoperative mortality. Even in patients with a complex form of a univentricular heart with associated anomalies and borderline preoperative hemodynamics TCPA can be performed with an acceptable risk.

[Evaluation of congenital vena cava anomalies and acquired vena cava obstructions after atrial switch operation using spiral computerized tomography and 3-dimensional reconstruction]. / Beurteilung angeborener Hohlvenenanomalien und erworbener Hohlvenenobstruktionen nach Vorhofumkehroperation mittels Spiralcomputertomographie und dreidimensionaler Rekonstruktion.

We report spiral-CT findings in adult patients with congenital abnormalities of the vena cava and systemic venous obstructions after atrial switch operation. Especially systemic venous obstruction is a well-known complication following Mustard procedure for transposition of the great arteries. The results demonstrate that computed tomography, particularly with the use of 3-dimensional surface reconstruction, is very useful as a highly sensitive procedure for the detailed depiction of abnormalities of the vena cava or of residua and sequelae after inflow correction for complete transposition. Demonstration of such abnormalities or obstructions after atrial switch operation is important, since the recognition and quantitation of caval anomalies by clinical techniques is unreliable and indeed often impossible. Imaging procedures such as spiral computed tomography are important for this purpose. Advantages of spiral computed tomography, particularly with 3-dimensional reconstruction, are discussed.

[Coronary sinus defects: rare form of interatrial communication]. / Koronarsinusdefekte: Seltene Form der interatrialen Kommunikation.

UNLABELLED: A coronary sinus defect results in a communication of variable size between the coronary sinus (CS) and the left atrium (LA). It is in most cases associated with a persistent left superior vena cava (l-SVC) and an atrial septal defect of the coronary sinus type and often part of a more complex cardiac malformation. If the CS to LA fenestration is the single cardiac defect, this anomaly provides the basis of an unusual form of interatrial communication, which may cause diagnostic difficulties. Two patients with this rare anomaly are reported. A 9-year-old boy presented with history of mild cyanosis pronounced after physical activity (SaO2 < 90%) since the age of 3. Comprehensive pulmonary and cardiological diagnostic procedures in the referring hospital yielded normal findings. Finally, a 1-SVC draining into a mildly dilated coronary sinus could be demonstrated echocardiographically. Contrast echocardiography revealed a right-to-left-shunt at atrial level. Diagnosis of a partially unroofed coronary sinus was subsequently confirmed during cardiac catheterization. The second patient was primarily diagnosed echocardiographically to have an atrial septal defect of the primum type (ASD I) in the first year of life. After pulmonary vascular markings on chest-x-ray had increased, she was assigned to our hospital for cardiac catheterization. Slight arterial desaturation (SaO2 88%) was present due to a large l-SVC anomalously draining into the LA, the innominate vein was missing. The roof of the coronary sinus was predominantly absent. Combined with a large atrial septal defect of the coronary sinus type, this resulted in significant left-to-right-shunt and right-to-left-shunt at atrial level due to a pure unroofed coronary sinus. CONCLUSION: A coronary sinus defect with partial or complete unroofing of the CS and a persistent l-SVC should be considered in the differential diagnosis of an otherwise unexplained systemic desaturation and in patients with both left-to-right-shunt and right-to-left-shunt at atrial level.

[Spiral CT and 3-dimensional reconstruction in evaluation of systemic venous obstruction after atrial switch operation for complete transposition of great vessels]. / Spiral-CT und dreidimensionale Rekonstruktion zur Beurteilung systemvenöser Obstruktionen nach Vorhofumkehroperation bei kompletter Transposition der grossen Gefässe.

We report findings in spiral-CT from 11 adolescent or adult patients after atrial switch operation. The results demonstrate that computed tomography, particularly with the use of three-dimensional surface reconstruction, is very useful as a highly sensitive procedure for the detailed depiction of residua and sequelae after inflow correction for complete transposition. Especially systemic venous obstruction (SVO) is a well know complication following Mustard procedure for transposition of the great arteries. Demonstration of such obstruction is important, since the recognition and quantification of caval obstruction by clinical techniques is unreliable and indeed often impossible. Imaging procedures such as spiral computed tomography are important for this purpose. Advantages of spiral computed tomography, particularly with three-dimensional reconstruction, are discussed. The images were compared with findings in echocardiography and/or angiography affecting the site of operation.

Modified Fontan operation in functionally univentricular hearts: preoperative risk factors and intermediate results.

BACKGROUND: The modified Fontan operation has been proposed as definitive palliation for an increasing variety of hearts with complex univentricular anatomy. To eliminate the influence of different surgical strategies, only patients undergoing total cavopulmonary anastomosis were included in this retrospective study. METHODS: Seventy-two patients had been operated on at ages ranging from 7 to 219 months, with 29 patients younger than 4 years. Twenty-three patients had mean pulmonary artery pressures higher than 15 mm Hg, elevated pulmonary arteriolar resistances (> 3 U.m2), or elevated end-diastolic ventricular pressure (> 12 mm Hg). Associated systemic or pulmonary venous anomalies were present in 22 patients (30%), and atrioventricular valve incompetence was present in 21 patients (29%). RESULTS: The overall mortality rate was 9.7% (7/72). Variables with significant effects on postoperative mortality were associated systemic or pulmonary venous anomalies, atrioventricular valve incompetence, mean pulmonary artery pressure greater than 15 mm Hg, and prolonged cardiopulmonary bypass time. Postoperative morbidity resulted mainly from atrial arrhythmia (20%). Clinical signs of protein-losing enteropathy or atrial thrombi were rare (3% and 6%, respectively). Postoperative hemodynamic data from 48 surviving patients (74%) revealed a mean transpulmonary gradient of 6.3 mm Hg, systemic venous pressure greater than 12 mm Hg in only 10 patients, and cardiac index less than 3 L.min-1.m-2 in 18 patients. CONCLUSION: In a high proportion of hearts with complex univentricular anatomy, associated anomalies, and borderline hemodynamics, the Fontan operation can be performed as a total cavopulmonary anastomosis with acceptable intermediate postoperative morbidity and hemodynamic results.

Isolated aortic coarctation in neonates and infants: results of resection and end-to-end anastomosis.

BACKGROUND: Operative resection is the treatment of choice for native aortic coarctation in most institutions. The ideal timing for elective repair is still a matter of debate. This study evaluated one institution's results with resection and end-to-end anastomosis in the first year of life. METHODS: Between January 1987 and December 1993, 46 neonates and infants with functionally isolated aortic coarctation underwent operative resection and end-to-end anastomosis. For the patients included in the study, all hospital records, catheterization data, and operative protocols were evaluated for retrospective analysis. To obtain valid follow-up information, all patients were systematically seen on an outpatient basis during 1994. RESULTS: After a mean follow-up of 49 +/- 24 months (range, 13 to 95 months), recoarctation (arm-leg blood pressure gradient > 20 mm Hg) occurred in 5 of 26 patients with neonatal operations (19%) and in 1 of 20 patients with operations in infancy (5%, p = not significant). Four of these 6 children with recoarctation needed reintervention. The other 2 patients had only mild recoarctation (gradients of 22 and 30 mm Hg, respectively) and were not treated. In all 6 patients, recoarctation was diagnosed within the first 6 months postoperatively. During the whole follow-up period, right arm systolic blood pressures slightly above the 90th percentile of normal developed in 11 of the patients (24%) (7 in the group with neonatal operation and 4 after operation in infancy; p = not significant). CONCLUSIONS: Resection with end-to-end anastomosis was shown to be an adequate therapeutic strategy for isolated aortic coarctation in neonates and infants. The results indicate that already beyond the neonatal age, there is a relatively low incidence of recoarctation.

[Atresia of the left-sided atrioventricular connection with single ventricle and transposition of great vessels in a adult patients]. / Atresie der linksseitigen atrioventrikulären Verbindung mit singulärem Ventrikel und Transposition der grossen Arterien bei einer erwachsenen Patientin.

Mitral atresia is an extremely rare congenital anomaly in which survival into adulthood is an exception. Without treatment most patients with this anomaly will die in early childhood and only few reach adolescence or early adulthood. The here described patient with mitral atresia, atrial septal defect, single ventricle and transposition of the great arteries survived to age 24 years. She died as consequence of massive cerebral embolism of a thrombus in her left atrium.

[Intermediate and long-term outcome after percutaneous balloon dilatation of valvular pulmonary stenoses in childhood]. / Mittel- bis langfristige Ergebnisse nach perkutaner Ballondilatation valvulärer Pulmonalstenosen im Kindesalter.

Pulmonary balloon valvuloplasty was performed in 52 patients aged 7 days to 19 years (mean 5.5 years). Mean balloon/anulus ratio was 1.24. Mean right ventricular outflow tract (RVOT) systolic pressure gradient was 79.9 +/- 37.3 (x +/- SD) mm Hg before valvuloplasty and 37.2 +/- 29.6 mm Hg (p < 0.001) immediately after the procedure. 33 patients had residual RVOT-gradient < or = 36 (22 +/- 7) mm Hg, 19 patients had gradients > 36 (67.1 +/- 35.6) mm Hg. During intermediate follow-up (< 2 years) RVOT gradient assessed by catheterization or Doppler echocardiography improved without any additional intervention in 10/19 patients with RVOT gradient > 36 mm Hg early after valvuloplasty. 6/19 patients required additional reduction of RVOT gradient by repeated valvuloplasty (51 +/- 19 to 29 +/- 5 mm Hg; p < 0.01). 3/19 patients needed surgical resection of extremely thickened dysplastic valves. 49 patients had a mid- to long-term follow-up by echocardiography (mean 4.3, max. 9 years); the RVOT gradient decreased from 25.7 +/- 12.8 mm Hg during intermediate follow-up to 18.0 +/- 7.0 mm Hg during long-term follow-up. If pulmonary regurgitation was present after dilatation (n = 38), it was hemodynamically not significant and did not change during follow-up. Percutaneous balloon valvuloplasty was a safe and effective treatment for pulmonary valve stenosis in infancy and childhood. Long-term results confirm the value of this method.

Familial idiopathic atrial fibrillation with bradyarrhythmia.

UNLABELLED: A 10-year-old boy is reported who presented with idiopathic atrial fibrillation and bradyarrhythmia. After history of intrauterine and postnatal bradycardia, atrial fibrillation was first documented electrocardiographically at 16 months of age. An underlying structural heart disease was not evident. At the age of 10 years, implantation of a permanent ventricular demand pacemaker was indicated after syncope due to severe bradyarrhythmia. The family history revealed five persons of four generations with bradyarrhythmias. Idiopathic atrial fibrillation known since childhood was documented in three close relatives. A high grade AV block resulting in bradyarrhythmias and the occurrence of ST-T-changes in precordial leads could be demonstrated in all affected family members suggesting a diffuse general conduction abnormality in these patients. In this family, idiopathic atrial fibrillation seems to be transmitted as an autosomal dominant trait. CONCLUSION: Atrial fibrillation without underlying heart disease is extremely rare in children. Careful electrocardiographic follow-up of these patients and the evaluation of ECG recordings of all family members is recommended.

[2D and Doppler echocardiography after atrial switch operation for transposition of great arteries; a review]. / 2D- und Doppler-Echokardiographie nach Vorhofumkehroperation bei Transposition der grossen Arterien: Eine Ubersicht.

Introduction of the atrial baffle procedure (Mustard, Senning) more than 30 years ago has dramatically improved the prognosis of patients with transposition of the great arteries. However, a range of late complications can occur even in clinically asymptomatic patients including: superior and inferior limb obstruction, pulmonary venous obstruction, residual baffle-leakage, left ventricular outflow tract obstruction, tricuspid valve regurgitation, right ventricular dysfunction and postoperative dysrhythmia. As an increasing number of patients has reached adulthood an accurate noninvasive technique is needed for routine follow-up studies. In most patients transthoracic two-dimensional (2D) and Doppler echocardiography allows a complete investigation of postoperative hemodynamic abnormalities -- in particular assessment of atrial baffle function. In adult patients with restricted echo-windows transoesophageal echocardiography may provide a more detailed assessment of atrial baffle morphology and function; TEE seems to be superior compared to angiography and magnetic resonance imaging. Furthermore TEE is a reliable guiding and monitoring technique during interventional cardiac catheterization procedures such as balloon dilatation or stent implantation and allows further surveillance. Even if compared to other noninvasive diagnostic procedures, 2D and Doppler echocardiography (transthoracic/transoesophageal) are still the most important and accurate diagnostic methods for routine investigation of the postoperative anatomy and potential late complications in patients who underwent an atrial baffle procedure.

[Atrial flutter in young patients after corrective operation of congenital heart defects: therapy by high frequency catheter ablation]. / Vorhofflattern bei jungen Patienten nach Korrekturoperation angeborener Herzfehler: Therapie durch Hochfrequenzstromablation.

UNLABELLED: Radiofrequency catheter ablation has been used successfully in adult patients for treatment of atrial flutter. Three young patients (mean age 14.6 years) with common type atrial flutter (n = 2) and uncommon type atrial flutter (n = 1) underwent electrophysiologic study. Cardiac diagnoses included tricuspid atresia after Fontan operation, status after closure of an atrial septal defect of secundum type, and status after surgical valvotomy for valvular pulmonary stenosis, respectively. Indication for ablation were syncopal episodes in one and presyncopal episodes in two patients. Flutter cycle length ranged from 280 to 320 ms. Right atrial endocardial mapping revealed areas with local electrograms preceding the onset of the flutter-P-wave by 70 to 80 ms. In these regions pace mapping was performed with the intention to produce an identical P-wave morphology and short stimulus to P-wave interval. Radiofrequency current application (500 kHz) with 30 W for 30 s at theses sites terminated atrial flutter and prevented reinduction in all three patients. No complications were observed. Follow-up (7 to 11 months) revealed recurrence of uncommon type of atrial flutter in one patient who previously had had common type. The remaining two patients are in stable sinus rhythm. CONCLUSION: Radiofrequency catheter ablation appears to be an effective treatment of atrial flutter after surgery for congenital heart defects in young patients.

Total cavopulmonary anastomosis in patients less than three years of age.

BACKGROUND: As young age at modified Fontan operation was thought to be a preoperative risk factor for poorer survival, we studied early and intermediate outcome in our young patient group. METHODS: Results in children less than 3 years of age (group I; n = 26; age range, 7 to 35 months) were compared with those in older patients (group II; n = 46; age range, 36 to 219 months). For both groups there was no significant difference with regard to preoperative pathology and hemodynamics. RESULTS: With an overall mortality of 9.7% (7/72) there was no significant difference for both groups. Group I (n = 23) and group II (n = 42) survivors did not differ with respect to early postoperative incidence of atrial dysrhythmias, duration and volume of pleural effusion, or incidence of reoperation. Results on intermediate follow-up (group I, 31 +/- 14 months; group II, 44 +/- 20 months) demonstrated a relatively low incidence of late atrial dysrhythmias (12.3%; 8/65). Late atrioventricular valve insufficiency was significantly more frequent in group I patients. CONCLUSIONS: With similar preoperative anatomic and hemodynamic parameters including 68% of patients with complex univentricular heart, total cavopulmonary anastomosis could be performed in patients less than 3 years of age with good clinical and hemodynamic results, as achieved in older patients.

[Q-fever associated myocarditis in a 14-year-old boy]. / Q-Fieber-assoziierte Myokarditis bei einem 14jährigen Jungen.

A 14-year-old boy presented with the symptoms and clinical signs of myocarditis. Ventricular arrhythmias were the main manifestation. Dilated left ventricle with slightly impaired contractility and spongy appearance of the myocardium were also noted. Laboratory signs of an acute infectious disease were absent, but a significant rise in the complement fixation titer for Coxiella burnetii was observed. Treatment with oral tetracycline for 6 months resulted in improvement of ventricular arrhythmias and normalization of left ventricular dimensions and structure over the following months. Cardiac involvement in Q fever is rare, and with it endocarditis is usually seen as a chronic form of the disease. Myocarditis associated with Q fever has been reported only in some rare cases but not in children. The case reported here illustrates that the diagnosis of Q fever should also be considered in a case of myocardial involvement in an infectious disease of unknown etiology.