Diagnóstico prenatal de enfermedad de canal atrio-ventricular, análisis epidemiológico y experiencia CERPO entre 2003 y 2021 / Prenatal diagnosis of atrio-ventricular canal disease, epidemiological analysis and CERPO experience between 2003 and 2021

Antecedentes: En Chile, la mitad de los casos de mortalidad perinatal son atribuibles a anomalías congénitas, y un tercio de estas corresponde a cardiopatías congénitas. Aproximadamente un 35% de estos últimos requerirán cirugía antes del año de vida, por lo que la pesquisa prenatal impacta profundamente en el pronóstico. Objetivo: Dar a conocer los resultados perinatales de pacientes con diagnóstico prenatal de canal atrio-ventricular controlados en el Centro de Referencia Perinatal Oriente (CERPO) entre los años 2003 y 2021, su asociación a otras anomalías, características demográficas y pronóstico a un año. Métodos: En este estudio se puede apreciar que tanto el pronóstico como el plan terapéutico posnatal dependerán de la presencia de otras alteraciones morfológicas y del estudio genético. De los factores estudiados, se puede concluir que tanto la presencia de anomalías cardiacas asociadas, como el grado de insuficiencia valvular y el tipo de canal no son predictores de la sobrevida perinatal. Conclusiones: Finalmente, en relación con la sobrevida posnatal, en este estudio, la sobrevida a un año de los recién nacidos vivos fue de un 52%, pero al desglosarlo en los niños con cariotipo euploide y trisomía 21, estos valores se tornan muy distintos, 44 y 81% respectivamente.

Background: In Chile, half of the perinatal mortality cases are attributable to congenital anomalies, and one third of these correspond to congenital heart disease. Approximately 35% of the later will require surgery before one year of life, so prenatal screening has a profound impact on the prognosis. Objective: To present the perinatal results of patients with a prenatal diagnosis of atrio-ventricular canal controlled at Centro de Referencia Perinatal Oriente CERPO) between 2003 and 2021, its association with other anomalies, demographic characteristics, and 1-year prognosis. Methods: In this study it can be seen that both the prognosis and the postnatal therapeutic plan will depend on the presence of other morphological alterations and the genetic study. From the factors studied, it can be concluded that the presence of associated cardiac anomalies, the degree of valvular insufficiency, and the type of canal are not predictors of perinatal survival. Conclusions: Finally, in relation to postnatal survival, in this study, the 1-year survival of live newborns was 52%, but when broken down into children with euploid karyotype and trisomy 21, these values become very different, 44 and 81% respectively.

Respuesta al ECG de marzo de 2019 / Response to ECG, March 2019

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[Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects].

OBJECTIVE: To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism. METHODS: The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH). RESULTS: The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus. CONCLUSION: The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus.

Increased regurgitant flow causes endocardial cushion defects in an avian embryonic model of congenital heart disease.

BACKGROUND: The relationship between changes in endocardial cushion and resultant congenital heart diseases (CHD) has yet to be established. It has been shown that increased regurgitant flow early in embryonic heart development leads to endocardial cushion defects, but it remains unclear how abnormal endocardial cushions during the looping stages might affect the fully septated heart. The goal of this study was to reproducibly alter blood flow in vivo and then quantify the resultant effects on morphology of endocardial cushions in the looping heart and on CHDs in the septated heart. METHODS: Optical pacing was applied to create regurgitant flow in embryonic hearts, and optical coherence tomography (OCT) was utilized to quantify regurgitation and morphology. Embryonic quail hearts were optically paced at 3 Hz (180 bpm, well above intrinsic rate 60-110 bpm) at stage 13 of development (3-4 weeks human) for 5 min. Pacing fatigued the heart and led to at least 1 h of increased regurgitant flow. Resultant morphological changes were quantified with OCT imaging at stage 19 (cardiac looping-4-5 weeks human) or stage 35 (4 chambered heart-8 weeks human). RESULTS: All paced embryos imaged at stage 19 displayed structural changes in cardiac cushions. The amount of regurgitant flow immediately after pacing was inversely correlated with cardiac cushion size 24-h post pacing (P value < .01). The embryos with the most regurgitant flow and smallest cushions after pacing had a decreased survival rate at 8 days (P < .05), indicating that those most severe endocardial cushion defects were lethal. Of the embryos that survived to stage 35, 17/18 exhibited CHDs including valve defects, ventricular septal defects, hypoplastic ventricles, and common AV canal. CONCLUSION: The data illustrate a strong inverse relationship in which regurgitant flow precedes abnormal and smaller cardiac cushions, resulting in the development of CHDs.

Trastorno de conducción auriculoventricular como primera manifestación de displasia arritmogénica del ventrículo derecho / Atrioventricular conduction disorder as a first manifestation of arrhythmogenic right ventricular dysplasia

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Relationship-Based Care for Newborns With Down Syndrome and Endocardial Cushion Defect.

Down syndrome with endocardial cushion defect is a challenging diagnosis for parents as well as members of the health care team. Utilizing a framework of relationship-based care, nurses are in a position to positively affect parents' experience by providing education, advocacy, and support from initial diagnosis through discharge. The plan of care is multidisciplinary and focuses on critical developmental needs, such as bonding and feeding. Because Down syndrome is associated with multiple anomalies, anticipatory guidance is needed to assist parents with establishing a health maintenance plan for their child after discharge.

Unique combination of atrioventricular septal defect with cor triatriatum and complete vascular ring.

Atrioventricular septal defect can present with one or more associated anomalies. Cor triatriatum (subdivided left atrium) and vascular rings are among the less frequent. We describe a two-month-old patient with these three cardiovascular anomalies. This case highlights the importance of exhaustive preoperative evaluation in order to achieve successful surgical correction in one stage.

Cardiovascular magnetic resonance parameters associated with early transplant-free survival in children with small left hearts following conversion from a univentricular to biventricular circulation.

BACKGROUND: We sought to identify cardiovascular magnetic resonance (CMR) parameters associated with successful univentricular to biventricular conversion in patients with small left hearts. METHODS: Patients with small left heart structures and a univentricular circulation who underwent CMR prior to biventricular conversion were retrospectively identified and divided into 2 anatomic groups: 1) borderline hypoplastic left heart structures (BHLHS), and 2) right-dominant atrioventricular canal (RDAVC). The primary outcome variable was transplant-free survival with a biventricular circulation. RESULTS: In the BHLHS group (n = 22), 16 patients (73%) survived with a biventricular circulation over a median follow-up of 40 months (4-84). Survival was associated with a larger CMR left ventricular (LV) end-diastolic volume (EDV) (p = 0.001), higher LV-to-right ventricle (RV) stroke volume ratio (p < 0.001), and higher mitral-to-tricuspid inflow ratio (p = 0.04). For predicting biventricular survival, the addition of CMR threshold values to echocardiographic LV EDV improved sensitivity from 75% to 93% while maintaining specificity at 100%. In the RDAVC group (n = 10), 9 patients (90%) survived with a biventricular circulation over a median follow-up of 29 months (3-51). The minimum CMR values were a LV EDV of 22 ml/m² and a LV-to-RV stroke volume ratio of 0.19. CONCLUSIONS: In BHLHS patients, a larger LV EDV, LV-to-RV stroke volume ratio, and mitral-to-tricuspid inflow ratio were associated with successful biventricular conversion. The addition of CMR parameters to echocardiographic measurements improved the sensitivity for predicting successful conversion. In RDAVC patients, the high success rate precluded discriminant analysis, but a range of CMR parameters permitting biventricular conversion were identified.

Double outlet right ventricle, atrioventricular canal defect with severe pulmonary artery stenosis: a rare cyanotic congenital heart disease.

Double outlet right ventricle (DORV) is characterised by arousal of the aorta and the pulmonary vessel from the right ventricle, and is always accompanied by a ventricular septal defect (VSD). Our patient, a twenty days-old female child, presented to the Paediatrics Unit I of Civil Hospital, Karachi, with complaints of generalised cyanosis and reluctance to feed since birth. Apart from the fact that the neonate was cyanosed with increased respiration, the physical examination was unremarkable. Two-dimensional echocardiography revealed two atrial septal defects (ASD), a ventricular septal defect (VSD) in the membranous area, continuous with primum ASD, resulting in an atrioventricular canal defect. The aorta was dilated with the pulmonary artery stenosis. The left ventricle was rudimentary, and both of the great vessels were arising from the dominant right ventricle. Despite the rarity, DORV with complex anatomy should be considered among the probable differential diagnoses for infants presenting with generalised cyanosis since birth.

Coronary sinus obstruction after atrioventricular canal defect repair.

The coronary sinus can become obstructed with any instrumentation at or near the ostium such as in atrioventricular canal defect repairs. This complication may lead to a wide range of consequences including dyspnea, angina, myocardial infarction, and sudden death. The following report illustrates the importance of careful perioperative echocardiographic evaluation of the coronary sinus in procedures that may affect the sinus and its ostium.

Two-ventricle repairs in the unbalanced atrioventricular canal defect spectrum with midterm follow-up.

OBJECTIVES: Unbalanced atrioventricular (AV) canal defects include a hypoplastic ventricle (HV) and AV valve (HAVV) precluding complete 2-ventricle repairs (2VRs). Catch-up growth would solve this problem and was induced by increasing HAVV flow. The objectives were to assess reliability of HV and HAVV growth and provide 5- to 15-year 2VR follow-up. METHODS: From 1990 to 2005, 23 consecutive infants (13 females and 10 males) with echo-diagnosed unbalanced AV canal defects (n = 20) or subsets (n = 3) underwent 2VRs. HV volumes (18 left and 5 right) and HAVV sizes estimated from biplane echoes and z values (standard deviation from expected) were determined. Hypoplasia was defined by a z value of less than -2.0. Three operative approaches were used: (1) Staged repairs (n = 9) had complete AVV repairs with partial atrial septal defect and ventricular septal defect closures, which increased HAVV flow and maintained stability. The septal defects were closed later. (2) An asymmetric valve partition (n = 8) was used to increase HAVV size. (3) For moderate hypoplasia, HAVV flow was increased and ASDs/VSDs were left for stability (n = 6). Follow-up at 5 to 19 years was done locally. RESULTS: Staged repairs began at 20 to 328 days (average, 129 days) and were completed 5 to 145 days later (average, 101 days). Midterm survival was 87% (20/23) after 1 central nervous system bleed after trial weaning from extracorporeal membrane oxygenation and 2 later deaths from hyperkalemia. Reoperations for AVV regurgitation (n = 3), AVV stenosis (n = 1), and mitral valve replacement (n = 1) were satisfactory. On follow-up, all hypoplastic structures (HV and HAVV) had grown to normal size. Two patients "doing well" were lost to follow-up. Survivors have satisfactory 2VRs, with 15 of 18 taking no cardiac failure medications. CONCLUSIONS: Reliable HV/HAVV catch-up growth was induced, and all midterm 2VRs were satisfactory.

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 and morphological parallels in mitral valve disorders in infants with atrioventricular defect].

Mitral valves tissue samplings from children with complete (13 patients) and partial (6 patients) atrioventricular defects at the age of from I month to 3 years old were examined. The biopsy material was received during the repeat surgical operation on mitral valve, performed due to residual mitral valve regurgitation grade 3-4 at the period of time from 2 days to 1 year after radical defect correction. On histological examination the areas of myxomatous tissue degeneration occupying more than 50% of mitral valves surface were found in 6 (32%) of the 19 patients. There were dispersed star-shaped cells, architectonics disturbances, deposition of acid mucopolysaccharides and increased content of matrix metalloproteinase 13 in such areas of myxomatous degeneration. The sizes of these areas correlated with mitral valve regurgitation grade. After the radical correction of atrioventricular defect the sutures on the folds and fibrous ring of the mitral valve "cut through" reliably more often in patients with wider areas of myxomatous degeneration, which indicates poor prognosis. According to the ultrastructural classification the majority of mitral valve cells regarded as fibroblasts; there also were found cells with the signs of myogenic differentiation--myofibroblasts and isolated hystiocytes. According to the immunohistochemistry assay the cells phenotype regarded as fibroblastic and endothelial differentiation; in some patients there were found cells of smooth muscle origin.

Congenital endocardial cushion defect detected during uncomplicated pregnancy: a case report.

BACKGROUND: The first symptoms of previously undiagnosed congenital heart disease may become apparent during pregnancy. It is important to recognize structural heart lesions since they require additional monitoring during the prenatal, peripartum, and postpartum periods and are associated with increased maternal and fetal morbidity and mortality. CASE: We report a case of a new diagnosis of an endocardial cushion defect in an otherwise healthy woman in her third trimester whose presenting complaint was dyspnea in the left lateral decubitus position. CONCLUSION: We located only one other case report of a congenital heart lesion first diagnosed during pregnancy. While rare, since the signs and symptoms of congenital heart disease may also occur in normal pregnant women, it is important for the clinician to be aware that structural heart lesions are part of the differential diagnosis.

Diagnóstico prenatal y evolución de cardiopatías congénitas / Prenatal diagnosis and outcome of congenital heart diseases

Objetivo. Evaluar el diagnóstico prenatal y resultados posnatales de las cardiopatías congénitas diagnosticadas en nuestra Sección de Medicina Fetal. Métodos. Se incluyeron en el estudio aquellas gestaciones en las que se realizaron controles ecográficos en nuestro Servicio de Obstetricia con seguimiento prenatal y posnatal entre enero 2004 y febrero 2009. Confirmamos la concordancia diagnóstica prenatal/posnatal y describimos el seguimiento posnatal. Excluimos del estudio: comunicaciones interventriculares <3mm, los defectos septales atriales tipo ostium secundum y la persistencia del ductus arterioso. Resultados. En el periodo de estudio, se atendieron 11.821 gestaciones y se realizaron 829 ecocardiografías: 744 en gestaciones únicas (89,7%) y 85 en gestaciones múltiples (10,3%). Se diagnosticaron 108 cardiopatías congénitas (CC) (prevalencia 0,9%). La edad materna media fue de 33 años (rango 26-44 años). La edad gestacional media, en el momento del diagnóstico del defecto cardíaco, fue de 21,6 semanas (rango 12-40). Se encontraron alteraciones cromosómicas asociadas en 15 casos (13.8%) y anomalías extracardíacas en 40 fetos (37%). Se analizó la microdelección del cromosoma 22 en todos los casos de anomalías conotruncales. La tasa de falsos negativos fue del 5,5%, la concordancia pre y posnatal de 85,7%. Se realizaron 47 (43,1%) interrupciones del embarazo y una reducción embrionaria. Seguimos a los recién nacidos afectos de CC: 52 están vivos (supervivencia 47,7%) y 6 murieron (mortalidad 5,5%). Nuestra tasa de detección es del 94,4%, con una especificidad del 99,9%, valor predictivo positivo del 95,3% y valor predictivo negativo del 99,9%. Conclusiones. El trabajo en equipo multidisciplinar nos permite una detección prenatal de CC satisfactoria y una gran precisión diagnóstica(AU)

Objective. To evaluate the prenatal diagnosis and the postnatal outcome in congenital heart diseases diagnosed in our f Foetal Medicine Unit. Material and method. We reviewed all fatal echocardiographs performed in our unit between January 2004 and February 2009. We confirmed the prenatal / post-natal diagnostic concordance and we also reviewed the postnatal outcome. We excluded from the study: interventricular communications < 3mm, atrial septal defects type ostium secundum and the persistence of ductus arteriosus. Results. In the study period, we attended to 11,821 pregnancies and we performed 829 echocardiographs. There were 744 single births (89.7%) and 85 were multiple (10.3%). We prenatally diagnosed 108 congenital heart diseases (prevalence). The median maternal age was 33 (range 26-44) and the median gestational age at diagnosis was 21.6 weeks (range 12-40). We found associated chromosomal abnormalities in 15 cases (13.8%) and extracardiac malformations in 40 foetuses (37%). We analysed CATCH twenty two mutation in all cases with conotruncal anomalies, but in all cases the result was negative. Our false negative rate was 5.5%, pre- and post-natal concordance was 85.7%. There were 47 interruptions and we performed one embryonic reduction. We followed up all our newborns with congenital heart diseases: 52 are alive (47.7%) and 6 died (mortality: 5.5%). Our detection rate is 94.4%, with a specificity of 99.9%, positive predictive value 95.3% and negative predictive value 99.9%. Conclusions. Multidisciplinary team work leads to a better detection of congenital heart disease and to a better diagnostic accuracy(AU)

Short-term and long-term orthopaedic issues in patients with fragility fractures.

BACKGROUND: Patients with impaired bone quality who suffer a fragility fracture face substantial challenges in both their short- and long-term care. In addition to poor bone quality, many of these patients have multiple medical comorbidities that alter their surgical risk and affect their ultimate functional recovery. Some medical issues can contribute to the altered bone quality and must be addressed to prevent future fractures. QUESTIONS/PURPOSES: This review summarizes the modifications in perioperative management and fracture fixation in patients with common fragility fractures who have impaired bone quality. It also summarizes the postoperative diagnosis and treatment of secondary causes of impaired bone quality in these patients. METHODS: We performed a PubMed search, and literature published after 2000 was prioritized, with the exception of benchmark clinical trial studies published before 2000. RESULTS: Patients with altered bone quality require rapid perioperative management of multiple medical comorbidities. Implant selection in patients with poor quality bone should permit early weightbearing, and constructs should maximize surface area contact with the remaining bone. Long-term diagnosis and treatment of other disease states contributing to poor bone quality (vitamin D deficiency/insufficiency, hypothyroidism, hyperthyroidism, hyperparathyroidism, Cushing's disease, and hypogonadism) must occur to minimize the chances of future fractures. CONCLUSIONS: Recognition of patients with impaired bone quality and proper treatment of their special needs in both the short and long term are essential for their best opportunity for maximal functional recovery and prevention of future fractures.

Complete atrioventricular canal in a dog.

This report details a case of complete, type A atrioventricular (AV) canal, also called complete endocardial cushion defect, in a young dog. Complete AV canal is classified as three types: A, B or C depending on the degree of linkage between common AV valve and ventricular chambers. Despite the defect this dog, which did not undergo surgical treatment, remains in ISACHC class Ib 19 months after the initial diagnosis.

Bifid epiglottis: syndromic constituent rather than isolated anomaly.

BACKGROUND: Bifid epiglottis is a congenital malformation defined as a midline-cleft of the epiglottis, which can be presented as an isolated anomaly as well as a part of malformation complexes. Its common occurrence in Pallister-Hall syndrome (PHS) has recently been attracting special attention. In the embryo, epiglottis, hypothalamus, and digital buds develop synchronously. Some disturbances during this stage may account for the concurrence of bifid epiglottis, hypothalamic hamartoma, and polysyndactyly in PHS. The incidence of bifid epiglottis remains unknown. METHODS: We report here four children with bifid epiglottis out of 472 children who underwent laryngoscopy during the period from January 1995 to December 2004 in our hospital. RESULTS: All four children presented stridor of variable degrees. One had a partial cleft of the epiglottis associated with only tracheomalacia. The other three had a complete cleft of the epiglottis associated with complex malformations: one had accessory auricles with preauricular sinus, polycystic kidney disease with intrahepatic biliary dilatation, endocardial cushion defect, and postaxial polydactyly; another had hypothalamic hamartoma, Hirschsprung disease, and polydactyly, which warranted a diagnosis of PHS; the other had no other dysmorphic features. CONCLUSION: Bifid epiglottis can be presented as a syndromic constituent of congenital malformation syndromes rather than as an isolated anomaly. A high index of suspicion of bifid epiglottis should be raised in children with brachy-poly-syndactyly and clinical symptoms of upper airway obstruction.

[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.