Search

Purpose: Total anomalous pulmonary venous connection (TAPVC) is a rare congenital cardiovascular malformation that is characterized by an absent connection of the pulmonary veins to the left atrium. Echocardiographic differentiation of TAPVC and persistent pulmonary hypertension of the newborn (PPHN) can be a great diagnostic challenge. The aim of our study was the assessment of a systematic echocardiographic approach to evaluate the feasibility and reliability of noninvasive diagnosis of TAPVC., Methods: Between January 1995 and January 2005, 15 consecutive patients with isolated TAPVC were diagnosed in our institution. 5 patients had supracardiac type, 5 cardiac type, 3 infracardiac and 2 had mixed type of TAPVC. Since 2001 preoperative diagnosis was performed exclusively by echocardiography (8/15 patients)., Results: TAPVC could be diagnosed correctly in all cases using a systematic echocardiographic approach with careful investigation of the proximal cardiac veins. Infracardiac type ofTAPVC was diagnosed using systematic evaluation of the liver with visualization of a pathological vessel with venous flow directed away from the heart. In all cases the echocardiographic findings were confirmed during surgery., Conclusion: Echocardiography with Doppler and color Doppler sonography is an effective method for noninvasive diagnosis of TAPVC. The presented systematic echocardiographic approach permits reliable noninvasive differentiation of TAPVC and PPHN.

Unlabelled: PURPOSE/MATERIALS AND METHODS: The aorto-pulmonary window is a rare congenital cardiac malformation consisting of a connection between the ascending aorta and the main pulmonary artery. Based on 5 consecutive patients who were treated in our tertiary referral centre between 7/2000 and 11/2005, we report the echocardiographic features as well the limitations of this diagnostic method in the assessment of this rare malformation., Results: Dilation of the left atrium and ventricle due to the large left-to-right-shunt was the characteristic echocardiographic feature in all patients with aorto-pulmonary window. In all patients we were able to visualise the window by 2D-echocardiography. Pulsed- and continuous-wave Doppler showed diastolic negative flow in the descending aorta and in systemic arteries due to left-to-right shunting in diastole via the aorto-pulmonary window. All 5 patients had significant associated cardiovascular malformations. They were accurately diagnosed by echocardiography. Coronary anomalies could be excluded noninvasively in all patients., Conclusion: Echocardiography is the method of choice for diagnosis of aortopulmonary window. Detection of aortopulmonary window, however, requires a systematic and careful investigation of all cardiovascular anatomic details, since this anomaly is frequently associated with substantial additional cardiac anomalies, which would by themselves be sufficient to explain the haemodynamic abnormalities of the patient. Cardiac catheterisation is required only in cases with inadequate information about coronary artery anatomy or in older patients with pulmonary hypertension, to determine the patient's suitability for surgical correction.

Objective: To assess the sensitivity and specificity of echocardiography in the detection of anomalies of the subclavian artery (cervical origin, aberrant origin from the descending aorta or isolation) in patients with monosomy 22q11., Method: From 1/1998 until 03/2002 we examined 57 patients with conotruncal cardiac malformations. 30 patients had pulmonary atresia and ventricular septal defect (53 %), 13 interrupted aortic arch (23 %), 9 tetralogy of Fallot (16 %) and 5 common truncus arteriosus (9 %). Echocardiographic examination included identification of the laterality of the aortic arch as well as examination of the origin of the brachiocephalic vessels. The results were compared with angiographic and intraoperative findings. Median age at echocardiographic investigation was 74 days (range 1 d - 33.4 yrs.)., Results: Laterality of the aortic arch was assessed correctly in all patients. 20/57 patients had a right-sided aortic arch (35 %). Echocardiography detected all anomalies of the subclavian artery (14/57 patients, 25 %, sensitivity 100 %) and excluded these anomalies correctly in 43 patients (specificity 100 %). Exact classification of the anomaly of the subclavian artery was possible in 6/6 patients with a cervical origin of the artery and in 7/8 patients with aberrant origin from the descending aorta. Monosomy 22q11 was diagnosed in 21 patients (37 %)., Conclusion: Echocardiography achieves a high sensitivity in the detection of anomalies of the subclavian artery. The diagnosis of cervical origin of the artery, in particular, can be easily established. As this anomaly appears to be a specific marker for monosomy 22q11, echocardiography facilitates reliable identification of these patients in clinical practice.

Atrial isomerism and visceral heterotaxy describe complex pathoanatomic findings with defects in the determination of lateralization. Differentiation of right and left atrial isomerism was based on the anatomy of the atrial appendages and bronchial tree and often associated with asplenia in right atrial isomerism and polysplenia in left atrial isomerism. In these pa tients complex cardiac anomalies determine clinical symptoms and diagnostic procedures. At primary diagnosis in the neonatal period, systemic venous and pulmonary venous connections and intracardiac anatomy are identified using the sequential segmental approach. Therapeutic decisions and palliative procedures can usually be based on these initial echocardiographic findings. As many of the patients were found to have a functionally univentricular heart, surgical procedures following the Fontan principle (lateral tunnel or extracardiac conduit procedure) were introduced in patients with heterotaxy syndrome and successfully performed. Early survival and long-term outcome vary depending on associated cardiac and systemic and pulmonary venous anomalies. The therapeutic options and mid-term results in patients with heterotaxy syndrome undergoing the Fontan procedure are reported.

Aim/method: The aorto-left ventricular tunnel (ALVT) is a rare congenital cardiac malformation with clinical findings of severe aortic insufficiency. We report the echocardiographic differentiation of different anatomical variants of ALVT in two infants., Results: Echocardiography in both patients demonstrated severe enlargement of the ascending aorta and the left ventricle. In the first patient the ALVT originated from the ascending aorta above the right coronary sinus and entered the left ventricle just below the aortic valve. In the second patient the ALVT originated above the left coronary sinus and took a lateral course to the left ventricle. Colour-Doppler-sonography in both patients confirmed a systolic-diastolic flow across the tunnel. Many patients have associated cardiac defects. Exact determination of the morphology of the aortic valve and coronary arteries is mandatory for surgical repair. Postoperative follow-up studies focus on the function of the aortic valve and the left ventricle., Conclusion: Differentiation of different anatomical variants of ALVT is possible trough echocardiography. Cardiac catheterization is required only in cases with inadequate information about coronary artery anatomy.

Anomalous origin of one pulmonary artery from the ascending aorta is a rare anomaly which is almost always associated with hypertension in the contralateral pulmonary artery originating from the right ventricle. We report echocardiographic evaluation of an infant with tetralogy of Fallot and aortic origin of the right pulmonary artery. Since all relevant information regarding anatomy and hemodynamics could be obtained by echocardiography, cardiac catheterization and angiography were unnecessary. Surgical correction including transatrial patch closure of the ventricular septal defect, resection of the infundibular stenosis and direct reimplantation of the right pulmonary artery was performed successfully at the age of 7 weeks. The postoperative course was uneventful and persistent pulmonary hypertension was excluded by echocardiography. Our case shows that complete echocardiographic evaluation is possible in infants with this complex cardiac malformation. We recommend reserving cardiac catheterization for those patients with echocardiographic evidence of significant elevation of pulmonary vascular resistance. In order to avoid irreversible pulmonary vascular changes early surgical correction within the first 3 months of life should be performed in all children with aortic origin of a pulmonary artery including those with associated tetralogy of Fallot.

Data on mid- and long-term follow-up for the recent devices for closure of secundum-type atrial septal defects are limited. The purpose of our retrospective study was to report the effectiveness of transcatheter closure in patients with various morphological types of atrial septal defect other than centrally located defects within the oval fossa using the CardioSEAL and CardioSEAL-Starflex occluder. A total of 91 patients (age 1.5-71 years, median 6 years) underwent transcatheter closure. On the transesophageal echocardiogram, defect size varied from 6 to 18 mm with an estimated stretched diameter of 11 to 24 mm, median 15 mm; the ratio of the stretched diameter to septal length ranged from 0.28 to 0.68. Mean follow-up was 28.7 +/- 11,9 months (range 3-46 months). Isolated secundum-type defects were present in 59 patients (65%), multiple septal defects including patients with perforated atrial septal aneurysms and defects with deficient atrial rim in 32 patients (35%). Occlusion rate using device diameters from 23 to 40 mm increased from 66% (60/91 patients) immediately after implantation to 86% (48/56 patients) 24 months after implantation. Patients with isolated secundum-type defects presented with a significantly higher primary closure rate (45/59 patients, 76%) compared to patients with various defect morphology. Closure rate did not depend on the type of implanted device modification. No thrombus formation, sustained atrial arrhythmia or infective endocarditis occurred. Serial transthoracic echocardiographic findings revealed protrusion of one left-sided arm onto the right atrial aspect in 5 patients; malposition of one right-sided superior arm of the device was observed in 7 patients. Fluoroscopy showed single fatigue fracture in 7 patients (7.7%) within the first 6 months after implantation. These results demonstrate that transcatheter closure with the double umbrella device was effective and safe on medium-term follow-up and could be extended to atrial septal defects of various morphology.

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.

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.

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.

Aortic thrombosis during neonatal period is rare and usually related to an umbilical artery catheter. In an infant (birth weight 3110 gm) with complete thrombosis of the abdominal aorta distal to the renal arteries of unknown etiology we started a fibrinolytic therapy with streptokinase at the age of 12 days (streptokinase intravenously with an initial loading dose of 3000 U/kg, maintenance 1000 U/kg/hr for 2 days). This was followed by a heparinisation (10,000 U/m2/d, 24 hours later 200 U/kg/d). 72 hours after onset of therapy there was no blood pressure difference between upper and lower limbs. Side-effects of therapy did not occur; the success of medical treatment continued after termination of the heparinisation.

In order to evaluate postoperative sequelae and ventricular function after Mustard-operation in patients with transposition of the great arteries (TGA), 30 patients were assessed by magnetic resonance imaging in EKG-triggered spin-echo (SE) and gradient-echo (GE) technique. Twenty-three patients, aged 4.7 to 15.8 years, had transposition of the great arteries with intact ventricular septum with or without left-ventricular outflow tract obstruction (TGA+IVS +/- SPS). Seven patients aged 9.5 to 21.7 years had transposition of the great arteries with ventricular septal defect (TGA+VSD). Five patients showed a residual baffle leak, one had a pulmonary venous obstruction, five an obstruction at the caval veins, 13 a left-ventricular outflow tract obstruction, and 14 a tricuspid regurgitation. Right-ventricular enddiastolic volume in patients with TGA+VSD (77.0 +/- 25.5 ml/m2) was significantly higher than in patients with TGA+IVS +/- SPS (61.2 +/- 12.0 ml/m2). In TGA+VSD right-ventricular ejection fraction (47.6 +/- 13.0%) was significantly lower than in patients with TGA+IVS +/- SPS (56.7 +/- 10.7%). The ratio of muscle masses of right to left ventricle was 1.8:1 in patients with TGA+IVS +/- SPS and 2.5:1 in patients with TGA+VSD. In conclusion, after Mustard-operation in patients with transposition of the great arteries (TGA) magnetic resonance imaging provides a comprehensive and noninvasive assessment of postoperative sequelae, residuae, and ventricular function and will, therefore, become the method of choice for postoperative evaluation.

From 1975-1986 6 boys with congenital nephrogenic diabetes insipidus were diagnosed at the age of 3 months to 10 years. Symptoms appeared within the first few weeks of life. The diagnosis was confirmed by polyuria, low urinary osmolality (97-225 mosm/kg H20), hypernatraemia (max. 171 mmol/l) and the missing response to vasopressin. The treatment was variable; 4 boys received only hydrochlorothiazide (2-2.5 mg/kg/d) which lead to a reduction of the daily urinary volume of 26-44%. Hyperelectrolytaemia disappeared and a normal thriving could be achieved. Later an additional treatment with indomethacin (2 mg/kg/d) was necessary in 3 boys because of an increase of polyuria; there was a further reduction of the daily urinary volume of 50-60%. The combination of hydrochlorothiazide and indomethacin in the treatment of the congenital nephrogenic diabetes insipidus was well tolerated and seems to be--especially during the first few years of life--a necessary and effective treatment which allows a normal thriving and psychointellectual development.