National outcomes of the Fontan operation with endocardial cushion defect.

BACKGROUND: The traditional outcomes of the Fontan operation (FO) in endocardial cushion defect (ECD) patients have been suboptimal. Previous studies have been limited by the smaller number of ECD patients, longer study period with an era effect, and do not directly compare short-term outcomes of FO in ECD patients with non-ECD patients. Our study aims to address these shortcomings. METHODS: A retrospective analysis of the Kids Inpatient Database (2009, 2012, and 2016) for the FO was done. The groups were divided into those who underwent FO with ECD as compared to non-ECD diagnosis. The data were abstracted for demographics, clinical characteristics, and operative outcomes. Standard statistical tests were used. RESULTS: Three thousand three hundred eighty patients underwent the FO of which 360 patients (11%) were FO-ECD. ECD patients were more likely to have Down syndrome, Heterotaxy syndrome, transposition/DORV, and TAPVR as compared to non-ECD patients. FO-ECD had a higher discharge-mortality (2.84% vs. 0.45%, p = .04). The length of stay (16 vs. 13 days, p = .05) and total charges incurred ($283, 280 vs. $234, 106, p = .03) for the admission were higher in the FO-ECD as compared to non-ECD patients. In multivariable analysis, ECD diagnosis, cardiac arrest, acute kidney injury, and postoperative hemorrhage were predictors of mortality. CONCLUSION: Contemporary outcomes for FO are excellent with very low overall operative mortality. However, the outcomes in ECD patients are inferior with higher operative mortality than in non-ECD patients. The occurrence of postoperation complications and a diagnosis of ECD were predictive of a negative outcome.

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single-center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients. Literature review was performed to investigate previously reported studies on atypical CHDs in DS. Patients with CHDs were subclassified as having typical or atypical CHDs. Statistical analysis was performed for comparison between the groups. The study population encompassed 859 DS patients, 72.2% with CHDs, of which 4.7% were atypical. Statistical analysis showed a significant excess in multiple surgeries, all-cause mortality and cardiac mortality in patients with atypical CHDs (p = .0067, p = .0038, p = .0001, respectively). According to the Kaplan-Meier method, survival at 10 and 40 years was significantly higher in typical CHDs (99 and 98% vs. 91 and 84%, log rank <0.05). Among atypical CHDs, it seems that particularly multiple complex defects in univentricular physiology associate with a worse outcome. This may be due to the surgical difficulty in managing univentricular hearts with multiple defects concurring to the clinical picture or to the severity of associated defects themselves. Further studies need to address this specific issue, also considering the higher pulmonary pressures, infective complications, and potential comorbidities in DS patients.

Repair of Double Orifice Left AV Valve (DOLAVV) with Endocardial Cushion Defect in Adult.

Double orifice left atrioventricular valve (DOLAVV) or double orifice mitral valve (DOMV) is a rare congenital cardiac anomaly manifesting either as an isolated lesion (mitral stenosis or mitral insufficiency) or in association with other congenital cardiac defects. Signs of mitral valve disease are usually present along with the symptoms of associated coexistent congenital heart diseases. Mitral insufficiency due to annular dilatation is seen when DOLAVV is associated with endocardial cushion defects. Surgical intervention like mitral valve repair or replacement is required in 50% of patients and yields good results. We report a case of a 56-year-old lady who successfully underwent surgical correction of DOLAVV with partial atrioventricular canal defect.

Repair of double orifice left av valve (dolavv) with endocardial cushion defect in adult

Abstract Double orifice left atrioventricular valve (DOLAVV) or double orifice mitral valve (DOMV) is a rare congenital cardiac anomaly manifesting either as an isolated lesion (mitral stenosis or mitral insufficiency) or in association with other congenital cardiac defects. Signs of mitral valve disease are usually present along with the symptoms of associated coexistent congenital heart diseases. Mitral insufficiency due to annular dilatation is seen when DOLAVV is associated with endocardial cushion defects. Surgical intervention like mitral valve repair or replacement is required in 50% of patients and yields good results. We report a case of a 56-year-old lady who successfully underwent surgical correction of DOLAVV with partial atrioventricular canal defect.

Severe Left Atrioventricular Valve Regurgitation Due to Discontinuity between the Leaflets of the Aortic and Left Atrioventricular Valves in a Patient with Endocardial Cushion Defect: A Rare Case Report.

Discontinuities between the leaflets of the aortic and left atrioventricular valves are uncommon congenital malformations. The anomaly may be discovered during surgery without preoperative diagnosis. It represents a spectrum of anomalies that result from interruption of the normal development of the endocardial cushions during the fetal life. We describe a rare case of Down syndrome with transient complete atrioventricular block and discontinuity between the leaflets of the aortic and left atrioventricular valves without intervening fibrous band, leading to separation and detachment between them. It caused severe eccentric jet of regurgitation originated from left ventricular outflow tract and base of anterior leaflet of left atrioventricular valve into the left atrium. He underwent cardiopulmonary bypass, and the defect between left atrioventricular valve and aortic annuli was sewn. Permanent epicardial pacing was inserted during cardiac surgery. To the best of our knowledge, such a case has not been previously reported in the literature.

[Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome]. / Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld.

Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.

Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld / Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome

El síndrome de Ellis-Van Creveld (SEVC) o displasia condroectodérmica se debe a una mutación de transmisión autosómica recesiva en el brazo corto del cromosoma 4 y afecta múltiples órganos. Descrito como una tétrada clásica de condrodisplasia, displasia ectodérmica, polidactilia y defectos cardíacos congénitos, sólo se conoce a partir de informes y series de casos. Se describe el caso de un varón de 3 meses, sin antecedentes familiares de importancia, que presentó un cuadro de condrodisplasia, labio superior fusionado al paladar, simpolidactilia posaxial bilateral en las manos, displasia del desarrollo de las caderas, tórax estrecho con costillas cortas y compromiso cardíaco. El presente caso sería la primera comunicación del SEVC en el Perú.

Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.

Fístula aorta-átrio direito, simulando CIV, com fechamento percutâneo por prótese CERA / Percutaneous closure of aorta to right atrial fistula,simulating VSD, with CERA occluder

Fístulas entre a aorta e o átrio direito podem ser de origem congênita ou adquirida. As fístulas aortocamerais congênitas são raras anomalias do coração que podem ser confundidas com outros defeitos como comunicações interventriculares ou interatriais. São raros canais vasculares extra cardíacos e sua história natural, apresentação clínica e tratamento adequado ainda são obscuros. As fístulas adquiridas são, em geral, decorrentes de ruptura do seio de valsalva pós-infecciosa. Neste relato apresentamos um caso de difícil diagnóstico ecocardiográfico, no qual o diagnóstico de fístula aorta-átrio direito foi confundido com o de comunicação interventricular perimenbranosa e só confirmado após estudo hemodinâmico.

Aorta to right atrium fistula can be a congenital or condition. Congenital fistulas are uncommon heart diseases and can be mistaken by other heart lesions like interventricular septal defect or atrial septal defect. They seem to be are extra-cardiac vascular channels and their natural history, clinical presentation and treatment remain uncertain. Acquired fistula between aorta and right atrium is usually due to a post infeccious rupture of sinus of valsalva. The authors present a case of aorta-right atrium fistula that had been mistaken by perimenbranous interventricular septal defect during echocardiography examination and confirmed by cardiac catheterization.

Atrioventricular valve regurgitation in the fetus with atrioventricular canal defect: transition from prenatal to postnatal life.

Atrioventricular valve regurgitation (AVVR) is a clinically important element of the common atrioventricular canal defect. Cardiac preload and afterload increase from prenatal to postnatal life. These hemodynamic changes may increase the degree of regurgitation and affect management and prognosis. We sought to investigate the frequency of change in degree of AVVR from fetal to postnatal life in this patient population. Subjects who underwent both fetal and postnatal echocardiography within 4 weeks of life between January 2008 and September 2010 were included in the study. Degree of AVVR was assessed by color Doppler imaging and scored as 0 (no regurgitation), 1 (hemodynamically insignificant regurgitation), and 2 (hemodynamically important regurgitation). Forty-nine subjects were included. Mean gestational age at fetal echocardiogram was 34 ± 2.8 weeks; age at postnatal echocardiogram was a median of <24 h of age (range 0-24). After birth, 69 % subjects had no change, 8 % of subjects had a decrease, and 22 % subjects had an increase in AVVR grade. Five patients progressed from a fetal score 0 or 1 to postnatal score 2. Neither trisomy 21 nor heterotaxy syndrome were risk factors for progression of AVVR. In patients with AV canal defects, 90 % demonstrate no hemodynamically significant change in AVVR from fetal to postnatal life, whereas 10 % display a hemodynamically significant change. AVVR appreciated in utero is predictive of neonatal regurgitation in the majority of patients. These findings have implications for the counseling and management of the fetus with AV canal defect.

[Clinical analysis of unroofed coronary sinus syndrome with atrioventricular canal defect].

OBJECTIVE: To analyze symptoms, associated anomalies, diagnostic approach, and surgical procedures in patients with unroofed coronary sinus syndrome and atrioventricular canal defect. METHODS: The clinical data of 20 patients with unroofed coronary sinus syndrome from September 1999 to October 2007 were reviewed retrospectively. There were 10 male and 10 female patients. The age ranged from 6 months to 38 years old, with a mean of (11.4 +/- 11.0) years old. The body weight ranged from 6.7 to 73.0 kg, with a mean of (28.4 +/- 21.3) kg. There were 18 cases of partial atrioventricular canal defect, 2 cases of complete atrioventricular canal defect, and 12 cases of common atrium. The initial diagnosis of unroofed coronary sinus syndrome was made by the surgeon at repair of a partial or complete atrioventricular canal defect in 20 patients. Complex unroofed coronary sinus with left superior vena cava (LSVC) directly draining into the left atrium was found in 11 cases, 1 case of LSVC was ligated, 10 cases were reconstructed the intraatrial baffle or the intracardiac tunnel to drain LSVC to right atrium. The other 9 patients with simple unroofed coronary sinus were repaired with other procedures. The associated cardiac lesions were corrected concomitantly. RESULTS: Death occurred in 1 patient with complex congenital cardiac disease due to pulmonary infection. In the 14 early survivors, who had been followed up from 4 months to 3 years, there was no death and severe complications. CONCLUSIONS: When associated with a partial or complete atrioventricular canal defect, LSVC and a common atrium, unroofed coronary sinus syndrome should be considered as a possible additional finding. Repair according to the type of unroofed coronary sinus syndrome is effective.

[Infective endocarditis of both atrioventricular valves in a young man with atrioventricular canal defect - a case report]. / Infekcyjne zapalenie wsierdzia obu zastawek przedsionkowo-komorowych u mlodego mezczyzny z ubytkiem przegrody miedzyprzedsionkowej typu I - opis przypadku.

We report a case of a 33-year-old man with infective endocarditis of both atrioventricular valves coexisting with a congenital heart defect: atrioventricular canal defect. Transthoracic and transesopageal echocardiography showed complete atrioventricular canal defect and vegetations affecting both the normal mitral and tricuspid valves. The patient received a combined antibiotic therapy and was qualified for cardiosurgical correction.

Understanding atrioventricular septal defect: anatomoechocardiographic correlation.

OBJECTIVE: Correlate the anatomic features of atrioventricular septal defect with echocardiographic images. MATERIALS AND METHODS: Sixty specimen hearts were studied by sequential segmental analysis. Echocardiograms were performed on 34 patients. Specimen hearts with findings equivalent to those of echocardiographic images were selected in order to establish an anatomo-echocardiographic correlation. RESULTS: Thirty-three specimen hearts were in situs solitus, 19 showed dextroisomerism, 6 were in situs inversus and 2 levoisomerism. Fifty-eight had a common atrioventricular valve and 2 had two atrioventricular valves. Rastelli types were determined in 21 hearts. Nine were type A, 2 intermediate between A and B, 1 mixed between A and B, 4 type B and 5 type C. Associated anomalies included pulmonary stenosis, pulmonary atresia atrial septal defect, patent ductus arteriosus and anomalous connection of pulmonary veins. Echocardiograms revealed dextroisomerism in 12 patients, situs solitus in 11, levoisomerism in 7 and situs inversus in 4. Thirty-one patients had common atrioventricular valves and three two atrioventricular valves. Rastelli types were established in all cases with common atrioventricular valves; 17 had type A canal defects, 10 type B, 3 intermediate between A and B, 1 mixed between A and B and 3 type C. Associated anomalies included regurgitation of the atrioventricular valve, pulmonary stenosis, anomalous connection of pulmonary veins, pulmonary hypertension and pulmonary atresia. CONCLUSION: Anatomo-echocardiographic correlation demonstrated a high degree of diagnostic precision with echocardiography.

A rare variant of Ellis van Creveld syndrome.

A nine-year-old boy presented with progressively-increasing exertional dyspnoea for the last three months. The only significant finding in the general survey was polydactyly. His vital signs were normal. He had a prominent apical diastolic thrill, a prominent S1 with a low-pitched grade 4/6 mid diastolic rumbling murmur over the apex. The S2 was widely split, fixed and the second component was louder than the first one. There was a grade 3/6 ejection systolic murmur over the left second intercostal space. Electrocardiography showed features of left axis deviation, bi-atrial enlargement and right ventricular hypertrophy. Transthoracic echocardiography identified a thin undulating intra-atrial membrane on the left side along with an ostium-primum defect. In this patient, the diagnosis of a variant of Ellis van Creveld syndrome was made.

The double patch repair for complete atrioventricularis communis.

This article is a review of our experience with the two-patch repair of complete atrioventricularis communis. From October 1988 through December 2005, 222 infants and children underwent surgery. There were six early (2.7%) and six late (2.7%) deaths. Reoperation was required in 22 patients (10%) for residual or recurrent mitral regurgitation or stenosis, subaortic stenosis, repair of a ventricular septal defect with or without pulmonary stenosis, placement of a right heart valved conduit, and/or placement of a permanent cardiac pacemaker. All patients survived second operations and no child required early or late mitral valve replacement. The two-patch repair is a reliable surgical technique resulting in low mortality and a low need for reoperation.