[Right branch pulmonary artery stenosis with supravalvar aortic stenosis as a complication of Lecompte maneuver for tetralogy of Fallot associated with absent pulmonary valve].

The patient was diagnosed with tetralogy of Fallot associated with absent pulmonary valve syndrome and a low birth weight of 1,912 g. He suffered from respiratory distress on day 14 and received non-invasive positive pressure ventilation. At 5 months of age and 4.1 kg, he underwent intracardiac repair including right ventricular outflow repair with a monocusp patch, patch closure of the ventricular septum defect and right pulmonary transposition to the anterior of the ascending aorta following the Lecompte maneuver for airway decompression. He was subsequently discharged to home and exhibited an uneventful clinical course with non-invasive positive pressure ventilation for 5 months postoperatively. However, right pulmonary artery and supra-aortic stenosis was noted 2 years after the operation. Computed tomography (CT) and angiography showed ascending aorta strangulation by the right pulmonary artery with right ventricular outflow regurgitation. Right pulmonary artery reconstruction using polytetrafluoroethylene graft interposition and repeat right ventricular outflow repair with bicuspid hand-sewn valves was therefore performed;the postoperative course was uneventful. Pre- and post-operative management using non-invasive positive pressure ventilation and airway decompression with pulmonary artery translocation is a useful strategy in patients exhibiting symptomatic tetralogy of Fallot associated with absent pulmonary valve syndrome in the neonatal period.

Modified single patch: are we still worried about subaortic stenosis?

BACKGROUND: When the modified single-patch technique for atrioventricular septal defect (AVSD) repair was introduced by Dr Benson Wilcox, there was concern that these patients might be at risk for late subaortic stenosis and left ventricular outflow tract obstruction (LVOTO). This review evaluated our modified single-patch population for LVOTO in the postoperative period. METHODS: Between January 2000 and 2013, 77 infants underwent AVSD repair with a modified single-patch technique. Median age was 4.2 months, and median weight was 5 kg. Eight patients had a prior repair of coarctation of the aorta via left thoracotomy in the newborn period. RESULTS: The median hospital stay was 10 days. No patient required a pacemaker. The mean and median follow-up times were 4.6 and 3.7 years, respectively. Only 2 patients (2.5%) required reoperation for LVOTO; both had prior repair of coarctation of the aorta (2 of 8 vs 0 of 69, p = 0.01). A discrete fibrous subaortic membrane developed in the first patient that required resection at 3 and 7 years after repair. The other patient had LVOTO from accessory chordae of the left atrioventricular valve and required mitral valve replacement 5 months after repair. One early death occurred at 4 months postoperatively due to liver failure related to hyperalimentation. CONCLUSIONS: At intermediate term follow-up, LVOTO does not appear to be a significant postoperative issue after modified single-patch repair of AVSD. Coarctation of the aorta was the most significant predictor of late LVOTO after repair of AVSD with the modified single-patch technique.

Síndrome de Williams: características clínicas de tres casos / Williams syndrome: clinical characteristics of three cases

El Síndrome de Williams (SW) es un síndrome genético generado por la deleción del gen de la Elastina y genes contiguos del cromosoma 7q11.23. Tiene una incidencia de 1:7500-20.000 recién nacidos vivos. Se caracteriza por un conjunto de síntomas y signos con compromiso multiorgánico y un fenotipo conductual distintivo. Objetivo: Describir la clínica del SW en relación a tres casos clínicos. Método: Estudio descriptivo retrospectivo de fichas clínicas de pacientes estudiados y tratados entre el 2006 y 2012. Resultados: Tres varones con rango de edad entre 4 y 6 años. Todos presentaron dismorfias características y se asociaron a cardiopatía congénita: estenosis aórtica supravalvular. En los rasgos de personalidad destacaron alta sociabilidad y habilidades en lenguaje expresivo, RM leve a moderado y mala coordinación motora. Conclusión: Todos nuestros pacientes presentaron características concordantes con las descritas para SW. Existen alteraciones funcionales cerebrales en pacientes con SW que tienen relación con el perfil cognitivo observado.

Williams Syndrome (WS) is a genetic disorder caused by deletion of elastine gene and contiguous genes of chromosome 7q11.2. It has an incidence of 1:7.500-20.000 newly born. It is characterized by a group of symptoms and signs with multiorganic involvement and a distinctive behavioural phenotype. Objective: To describe the clinical manifestations of WS in relation to three case reports. Method: review of clinical reports of patients diagnosed and treated between 2006 and 2012. Results: Three boys aged 5-9 years, all of them presented distinctive appearance, associated to congenital heart disease: aortic supravalvular stenosis. Behavioral features included high sociability and expressive language skills, mental retardation and poor motor coordination. Conclusions: All of our patients had clinical characteristics corresponding to the ones described for WS in the literature. The peculiar cognitive profile is presumed to be related to functional brain alterations described in WS.

Right ventricular outflow repair: the aortic autograft technique procures the best late results in the transposition complex.

OBJECTIVE: After treatment of transposition of the great arteries (TGA), ventricular septal defect (VSD), pulmonary stenosis, or atresia by various surgical procedures, two main problems led to reoperation: RV-PA conduit or connection stenosis and subaortic stenosis. We report here our mid- and long-term experience of a technique described in 1997 using a segment of aortic autograft as a RV-PA conduit. METHODS: Between 1993 and 2005, 25 patients with TGA, VSD, PS, or atresia were corrected with a technique using an intra-ventricular rerouting with conal septum resection (as in reconstruction-endo-ventriculaire (REV)) and interposition of tubular segment of autograft aorta between RV and PA without Lecompte maneuver (as in Rastelli), using in some cases an additional monocusp patch. The patient's age at correction ranged from 2.5 months to 11 years (mean 2.2 years); seven patients were under 1 year and 13 had a previous shunt procedure. Patients were regularly followed by two-dimensional (2D) annual echocardiogram, occasionally by catheterization and more recently by MNR. RESULTS: There was one postoperative death essentially due to RV failure. There was one late death after 15 years. There were 23 long-term survivors with a mean follow-up of 12.8 years. All patients were in class I category and all of them were in sinus rhythm. Three of them needed a reoperation at 4, 5, and 6 years for subaortic stenosis and one of them with abnormal chordae in the left ventricle (LV) outflow, Only one patient needed a reoperation for RV-PA stenosis, 13 years after correction done at age 2.5 months, the autograft tissue not being implied and found normal at histology. Mean RV pressure by echo at last follow-up was 41 mm Hg. Ten patients exhibit a mild-to-moderate pulmonary regurgitation. Freedom from reoperation for RV-PA obstruction is 90% at 10 and 15 years. CONCLUSION: Compared with all other techniques (Rastelli, REV, and Nikaidoh) our autograft technique provides the best-reported outcome for RV-PA outflow freedom from reoperation, the aortic segment employed being a living tissue susceptible to growth. However, it remains most often a long-term valveless procedure and does not avoid occasional unexpected LV-AO stenosis.

Transient dynamic subaortic stenosis in premature neonates after patent ductus arteriosus ligation.

We describe 2 premature infants with PDA that did not respond to medical therapy and required surgical ligation. Both infants developed transient dynamic subaortic obstruction that resolved without specific therapy. This may have occurred due to sudden changes in the left ventricular volume.

Secondary subaortic stenosis in heart defects without any initial subaortic obstruction: a multifactorial postoperative event.

BACKGROUND/OBJECTIVE: Secondary subaortic stenosis (SSS) can occur after surgery for various congenital heart defects with or without initial left ventricular outflow tract obstruction (LVOTO). The objective of this study was to highlight the anatomical lesions and surgical procedures associated with the development of SSS after surgery on defects without initial LVOTO. METHODS: A retrospective study of 4710 patients was performed (1984-2005). The criterion for inclusion was a fixed subaortic obstruction requiring surgery, after an open- or closed-heart operation. The criterion for exclusion was an LVOTO at the time of the first operation. RESULTS: Twenty-eight patients were studied. The mean age at initial surgery was 32 months (4 days-47 years; median: 2 months). SSS occurred after three main types of surgery: repair of coarctation of the aorta, repair of AVSD and LV-aorta rerouting for double outlet right ventricle or transposition of great arteries. The mean delay of occurrence was 4.4 years (2 months-19 years). Frequently associated initial anatomical conditions were coarctation of the aorta (40%), lesions of the mitral valve (32%), bicuspid aortic valve (21%) and left superior vena cava (LSVC) (14%). Preoperative anatomical lesions of the LVOT were present in 93% of the cases. After the initial operation, only one patient had a mean echo-Doppler pressure gradient across the LVOT>20 mmHg. SSS was most frequently a subaortic membrane (n=23). The mean pressure gradient across SSS at the time of reoperation was 47+/-29 mmHg. Five patients developed a second SSS after 7.4 years (mean). One patient developed a third SSS. No patient died. When compared with patients without SSS, significant risk factors for SSS were low age at surgery (32 vs 74.9 months, p<10(-4)), pre-existing coarctation of the aorta (40 vs 10%, p<10(-4)), bicuspid aortic valve (21 vs 6%, p=0.002) and LSVC (14 vs 4%, p=0.02). CONCLUSIONS: SSS development is multifactorial, depending on initial anatomical lesions and initial surgery. Low age at initial surgery, coarctation of the aorta, bicuspid aortic valve and LSVC significantly increase the risk of SSS. These elements warrant long-term follow-up for early detection of SSS.

Aortic elongation induced aortic stenosis (AEAS).

We present a case of a 71-year-old man who presented with aortic stenosis. This was pseudo-aortic obstruction resulting from the mitral valve subvalvular apparatus impacting into a normal aortic valve as a result of elongation of the ascending aorta. To place this case in context, we also provide a review of left ventricular outflow obstruction with an emphasis on subvalvular stenosis.

Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease.

Diseases linked to the elastin gene arise from loss-of-function mutations leading to protein insufficiency (supravalvular aortic stenosis) or from missense mutations that alter the properties of the elastin protein (dominant cutis laxa). Modeling these diseases in mice is problematic because of structural differences between the human and mouse genes. To address this problem, we developed a humanized elastin mouse with elastin production being controlled by the human elastin gene in a bacterial artificial chromosome. The temporal and spatial expression pattern of the human transgene mirrors the endogenous murine gene, and the human gene accurately recapitulates the alternative-splicing pattern found in humans. Human elastin protein interacts with mouse elastin to form functional elastic fibers and when expressed in the elastin haploinsufficient background reverses the hypertension and cardiovascular changes associated with that phenotype. Elastin from the human transgene also rescues the perinatal lethality associated with the null phenotype. The results of this study confirm that reestablishing normal elastin levels is a logical objective for treating diseases of elastin insufficiency such as supravalvular aortic stenosis. This study also illustrates how differences in gene structure and alternative splicing present unique problems for modeling human diseases in mice.

[Accessory mitral valve tissue as a cause of subaortic obstruction. A case report]. / Tejido valvular mitral accesorio como causa de obstrucción subaórtica. A propósito de un caso.

It is a case of a 28-year-female with severe subaortic stenosis due to accesory mitral valve tissue of the type of an accesory medial valve belove the normal anterior one. The diagnosis was performed by echocardiography.

Accessory mitral valve tissue: report of two asymptomatic cases.

Accessory mitral valve tissue is a rare anomaly of embryologic development of the endocardial cushion and may cause substantial and progressive obstruction of the left ventricular outflow tract. Subaortic obstruction resulting from accessory mitral tissue is most likely due to systolic ballooning of the tissue into the outflow tract. The obstruction can occur in the early period of life as a result of mass effect or it can develop gradually due to the continued deposition of fibrous tissues within the left ventricular outflow tract. In patients with accessory mitral valve tissue, surgery is mandatory if there is a significant obstruction in the left ventricular outflow tract. We report two cases with accessory mitral valve tissue causing mild subaortic stenoses which did not require surgery.

[Subaortic stenosis more than twenty years after surgical repair of a partial atrial septal defect in an adult]. / Estenosis subaórtica veinte años después de la reparación quirúrgica de un defecto septal auricular parcial en el adulto.

Subaortic stenosis after surgical correction of a partial atrioventricular septal defect is uncommon. When it occurs, it is usually diagnosed 6-8 years after early surgical repair in childhood. We present a female patient who underwent mitral valve cleft repair and closure of a partial atrial septal defect with a Teflon patch at the age of 48 years. Twenty-two years later, she presented with severe subaortic stenosis that required surgical repair. We analyze the intracardiac morphological factors associated with the development of late subaortic stenosis. We recommend long-term follow-up, even after surgical repair in adults.

Subneoaortic stenosis complicating the arterial switch operation.

We report obstruction of the reconstructed left ventricular outflow tract diagnosed 18 months after an arterial switch operation that included closure of a ventricular septal defect. We speculate that either turbulences created by the patch used to close the ventricular septal defect, or postoperative modifications of ventricular geometry, were responsible for producing this unusual complication.

[Subaortic stenosis associated with perimembranous ventricular septal defect. Clinical follow-up of 36 patients]. / Estenose subaórtica associada a comunicação interventricular perimembranosa. Acompanhamento clínico de 36 pacientes.

OBJECTIVE: To study the clinical pattern of subaortic stenosis associated with perimembranous ventricular septal defect. METHODS: From January 1979 to June 2000, 36 children with perimembranous ventricular septal defect and fixed subaortic stenosis were followed-up regarding anatomic characteristics, evolvement, and clinical events. RESULTS: Age at diagnosis of subaortic stenosis ranged from 6 months to 170 months, and it was less than 1 year in only 2 children. Regarding sex, the distribution was 2:1 with a greater predominance of males. Ventricular septal defect was small in 61.0% of cases, medium in 30.56%, and large in 8.40%; the size of the septal defect decreased during follow-up in 30.56% (11 cases). In all patients, subaortic stenosis was membranous and fixed. During follow-up, 23 patients experienced evolvement of the stenosis. Surgical treatment was performed in 21 cases, and one patient underwent surgery for restenosis. Infectious endocarditis occurred in 2 patients; one of the patients died. CONCLUSION: Subaortic stenosis occurs in the natural history of ventricular septal defect usually after the first year of life, and it is progressive and requires surgery in most cases.