Marry Rijlaarsdam

More Than 30 Years' Experience With Surgical Correction of Atrioventricular Septal Defects

BACKGROUND Outcome of surgical correction of atrioventricular septal defects (AVSD) still varies despite enhanced results. We reviewed our 30-year experience with AVSD repair and identified risk factors for mortality and reoperation. METHODS Between 1975 and 2006, 312 patients underwent surgery for complete AVSD (n = 209; 67.0%), partial AVSD (n = 76; 24.4%), or intermediate AVSD (n = 27; 8.6%). Mean age was 2.4 ± 3.9 years; 142 patients (45.5%) were younger than 6 months. Follow-up was 99.0% complete. RESULTS There were 26 in-hospital deaths (8.3%) and 6 late deaths (2.1% of 283). Estimated overall survival for the total study population was 91.3%, 90.6%, and 88.6% at 1, 5, and 15 years, respectively. In the multivariable logistic regression analysis, surgical era 1975 to 1995 (p < 0.001) and younger age (p = 0.004) were found to be independent risk factors for early mortality, whereas preoperative AV valve insufficiency showed a tendency toward statistical significance (p = 0.052). Of the hospital survivors, 43 patients required a late reoperation. Estimated freedom from late reoperation was 96.4%, 89.3%, and 81.8% at 1, 5, and 15 years, respectively. Multivariable Cox regression analysis showed associated cardiovascular anomalies (p < 0.001), left AV valve dysplasia (p < 0.001), and absence of cleft closure (p = 0.003) to be independent risk factors for late reoperation. CONCLUSIONS AVSD repair can be accomplished with good long-term results. Early surgical era, associated cardiovascular anomalies, left AV valve dysplasia, and absence of cleft closure negatively influence survival and risk of reoperation.

Congenital heart disease in twin-to-twin transfusion syndrome treated with fetoscopic laser surgery.

OBJECTIVE To determine the incidence of congenital heart disease (CHD) and right ventricular outflow tract obstruction (RVOTO) in twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic laser surgery and evaluate the role of increased afterload by determining the difference in blood pressure and endothelin-1 at birth between donor and recipient twins. DESIGN Prospective study. SETTING Tertiary medical center, serving as the national referral center for fetoscopic laser surgery for TTTS in The Netherlands. PATIENTS All consecutive cases of monochorionic twins with TTTS treated with laser (n = 46 twin pairs) and monochorionic twins without TTTS (n = 55 twin pairs) delivered at our center between June 2002 and June 2005 were included in the study. INTERVENTIONS Echocardiography was performed within 1 week after delivery. At birth, blood pressure was measured in all survivors and endothelin-1 was determined in umbilical cord blood. Data on RVOTO in TTTS treated with laser surgery at our center but delivered elsewhere were reviewed retrospectively from medical records. RESULTS The incidence of CHD in the TTTS group and non-TTTS group was 5.4% (4/74) and 2.3% (2/87) (P = .42), respectively. RVOTO was diagnosed in 1 recipient twin delivered at our center and 2 recipient twins delivered elsewhere. The incidence of RVOTO in recipients was 4% (3/75). Mean systolic blood pressure at birth was similar in donor and recipient twins, respectively, 53 mm Hg vs. 56 mm Hg (P = .42). Mean endothelin-1 level at birth was also similar between donors and recipients, respectively, 14.3 ng/L and 13.2 ng/L (P = .64). CONCLUSION The incidence of CHD in TTTS treated with fetoscopic laser surgery is higher than in the general population (5.4% vs. 0.5%). We found no difference in afterload parameters between donors and recipients after laser treatment.

Resynchronization therapy after congenital heart surgery to improve left ventricular function.

This report describes the mid‐term beneficial hemodynamic effect of biventricular pacing in an infant with congestive heart failure after congenital heart surgery, due to resynchronization of the left and right ventricle, optimization of the AV delay, and (partial) correction of the LV dyssynchrony. (PACE 2003; 26:2042–2044)

Prenatal detection of transposition of the great arteries reduces mortality and morbidity

To evaluate the prenatal detection of transposition of the great arteries (TGA), after the introduction of a Dutch screening program in 2007, as well as the effect of prenatal detection on pre‐ and postsurgical mortality and morbidity.

Long-Term Results of Reoperation for Left Atrioventricular Valve Regurgitation After Correction of Atrioventricular Septal Defects

BACKGROUND Long-term results of reoperation for left atrioventricular valve regurgitation (LAVVR) after previous correction of atrioventricular septal defect (AVSD) are scarce. We evaluated long-term outcome of reoperation for LAVVR and identified risk factors for reoperation. METHODS Between December 1976 and July 2006, 45 of 312 patients with correction of different AVSDs underwent reoperation for LAVVR. The cohort of 267 patients who did not need reoperation for LAVVR allowed for the identification of risk factors for reoperation and evaluation of overall survival after primary AVSD repair in a competing risk scenario. Clinical data were obtained by retrospective review. RESULTS The left atrioventricular valve (LAVV) was repaired in 31 patients (68.9%) and replaced in 14 (31.1%). There were 3 in-hospital deaths (6.7%) and 2 late deaths (4.4%). Estimated overall survival was 88.1% at 15 years after the reoperation, and estimated incidence of death after reoperation in the total patient cohort was 2% at 15 years after the primary AVSD repair. Overall survival was significantly higher after LAVV repair than after replacement (p=0.010). Ten patients with LAVV repair required a second reoperation for LAVVR. At follow-up, survivors were in New York Heart Association functional class I (n=36) or II (n=4). Independent risk factors for first reoperation for LAVVR were associated cardiovascular anomalies (p<0.001), LAVV dysplasia (p<0.001), and nonclosure of the cleft (p=0.027). CONCLUSIONS After previous correction of AVSD, LAVVR can usually be corrected by valve repair. A very dysplastic valve may necessitate replacement. Overall survival is higher after repair than after replacement. In general, overall survival of patients reoperated on for LAVVR is favorable. The overall mortality rate after primary repair of AVSD is explained only for a small part by mortality after reoperation for LAVVR.

Mild Residual Pulmonary Stenosis in Tetralogy of Fallot Reduces Risk of Pulmonary Valve Replacement

BACKGROUND Current surgical strategies that aim at preventing pulmonary regurgitation in patients with corrected tetralogy of Fallot (cToF) may result in a certain grade of residual pulmonary stenosis (PS). The clinical implications of a postoperative residual PS in cToF patients remain unclear. Pulmonary valve replacement (PVR) is frequently needed during follow-up of cToF patients. The aim of the current study was to determine the role of residual PS in the need for PVR during follow-up in cToF patients. METHODS cToF patients were included if clinical follow-up after primary surgical correction had taken place for a minimum of 5 years. Patient characteristics, surgical factors, and postoperative factors were reviewed, with a special focus on the transpulmonic systolic gradient. Cox proportional hazards regression analysis was performed to identify predictors of PVR. RESULTS Of 171 cToF patients, 71 (41.5%) underwent PVR after 24.2 years (interquartile range, 16.8-31.6 years). Year of birth, older age at corrective operation, and patch use significantly predicted PVR during follow-up. By contrast, a mild residual PS in cToF patients (peak systolic gradient, 15-30 mm Hg) independently reduced the risk of PVR, as compared with patients without PS (hazard ratio, 0.47; p=0.02) and with moderate-to-severe PS (hazard ratio, 0.35; p=0.01). CONCLUSIONS In addition to the known risks factors for PVR, a postoperative mild residual PS reduces the risk of PVR during follow-up of cToF patients. This finding provides clinical evidence for a conservative PS relief during correction of ToF.

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

Marfan syndrome (MFS) is a dominant disorder with a recognizable phenotype. In most patients with the classical phenotype mutations are found in the fibrillin‐1 gene (FBN1) on chromosome 15q21. It is thought that most mutations act in a dominant negative way or through haploinsufficiency. In 9 index cases referred for MFS we detected heterozygous missense mutations in FBN1 predicted to substitute the first aspartic acid of different calcium‐binding Epidermal Growth Factor‐like (cbEGF) fibrillin‐1 domains. A similar mutation was found in homozygous state in 3 cases in a large consanguineous family. Heterozygous carriers of this mutation had no major skeletal, cardiovascular or ophthalmological features of MFS. In the literature 14 other heterozygous missense mutations are described leading to the substitution of the first aspartic acid of a cbEGF domain and resulting in a Marfan phenotype. Our data show that the phenotypic effect of aspartic acid substitutions in the first position of a cbEGF domain can range from asymptomatic to a severe neonatal phenotype. The recessive nature with reduced expression of FBN1 in one of the families suggests a threshold model combined with a mild functional defect of this specific mutation.

Disturbed myocardial connexin 43 and N-cadherin expressions in hypoplastic left heart syndrome and borderline left ventricle

OBJECTIVES Borderline left ventricle is the left ventricular morphology at the favorable end of the hypoplastic left heart syndrome. In contrast to the severe end, it is suitable for biventricular repair. Wondering whether it is possible to identify cases suitable for biventricular repair from a developmental viewpoint, we investigated the myocardial histology of borderline and severely hypoplastic left ventricles. METHODS Postmortem specimens of neonatal, unoperated human hearts with severe hypoplastic left heart syndrome and borderline left ventricle were compared with normal specimens and hearts from patients with transposition of the great arteries. After tissue sampling of the lateral walls of both ventricles, immunohistochemical and immunofluorescence stainings against cardiac troponin I, N-cadherin, and connexin 43, important for proper cardiac differentiation, were done. RESULTS All severely hypoplastic left hearts (7/7) and most borderline left ventricle hearts (4/6) showed reduced sarcomeric expressions of troponin I in left and right ventricles. N-cadherin and connexin 43 expressions were reduced in intercalated disks. The remaining borderline left ventricle hearts (2/6) were histologically closer to control hearts. CONCLUSIONS Four of 6 borderline left ventricle hearts showed myocardial histopathology similar to the severely hypoplastic left hearts. The remainder were similar to normal hearts. Our results and knowledge regarding the role of epicardial-derived cells in myocardial differentiation lead us to postulate that an abnormal epicardial-myocardial interaction could explain the observed histopathology. Defining the histopathologic severity with preoperative myocardial biopsy samples of hearts with borderline left ventricle might provide a diagnostic tool for preoperative decision making.

Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort

To examine the accuracy of fetal echocardiography in diagnosing congenital heart disease (CHD) at the fetal medicine units of three tertiary care centers.

Mid-term results of bidirectional cavopulmonary anastomosis and hemi-Mustard procedure in anatomical correction of congenitally corrected transposition of the great arteries †

OBJECTIVES The Senning or Mustard procedure combined with the arterial switch operation (ASO) (± VSD and no left ventricular (LV) outflow tract obstruction) or the Rastelli operation (VSD and LV outflow tract obstruction) has become the preferred strategy over conventional repair as it is thought to prevent long-term dysfunction of the right ventricle (RV). More recently, hemi-Mustard rerouting of blood from the inferior vena cava to the RV in combination with bidirectional cavopulmonary anastomosis (BCPA) has been adopted by some centres for potential benefits over the classic atrial switch procedure. The aim of this study was to analyse our experience with hemi-Mustard and BCPA as part of an anatomical repair of congenitally corrected transposition of the great arteries (CCTGA) in selected patients. METHODS Between 2004 and 2011, eight patients underwent hemi-Mustard/BCPA with the Rastelli operation (n = 6) or ASO (n = 2). The median age was 2.9 (range: 1.2-9.1) years. Positional anomalies were present in 75% of the patients. Both patients with ASO had dysplastic and insufficient tricuspid valves. In the Rastelli group, four patients had previously received shunts followed by BCPA in one patient. In the ASO group, both patients underwent pulmonary artery banding initially. RESULTS There was one in-hospital death and no late mortality. Two patients received a pacemaker. One patient from the Rastelli group required conduit change 6 years later. At the mean follow-up of 4.5 years, six and one patients are in NYHA classes I and II, respectively; six patients showed good biventricular function, while one had LV dysfunction. Systemic venous obstruction and sinus node dysfunction were not observed, and BCPA was functioning well in all patients. CONCLUSIONS Hemi-Mustard/BCPA is useful in anatomical repair of CCTGA in selected patients. When compared with the classic atrial switch operation, it is technically easier which makes it especially helpful in atrio-apical discordance; it unloads an RV with limited size or function, and avoids complications related to the upper limb of the classic atrial switch procedure. Mid-term results of this approach are favourable. Further follow-up is needed to prove long-term benefits.