Caracterización de las enfermedades valvulares congénitas en la edad pediátrica / Characterization the pediatric patients with diagnostic of illnesses congenital valvulares

Introducción: Las valvulopatías congénitas son un grupo de entidades en las cuales la principal alteración anatomofuncional está en las válvulas cardiacas. Objetivo: Caracterizar los pacientes pediátricos nacidos vivos con diagnósticos de valvulopatías congénitas. Métodos: Se realizó una investigación descriptiva retrospectiva a partir de los registros de valvulopatías congénitas del Servicio de Cardiología del Hospital Pediátrico Universitario José Luis Miranda en Santa Clara, Cuba, en el periodo de 2005 a 2016. La población estuvo conformada por los 147 niños nacidos vivos con diagnóstico de valvulopatías congénitas. Se empleó un muestreo no probabilístico intencional por criterios y la muestra quedó conformada por 143. La recogida de la información se realizó a través de la revisión documental de las historias clínicas. Resultados: La tasa de incidencia de la valvulopatías congénitas fue de 1,5 x 1 000 nacidos vivos, predominó la estenosis pulmonar que agrupó el 70,6 por ciento de los diagnosticados. Se encontró predominio del sexo masculino con 50,3 por ciento, se determinó que 45,5 por ciento de los casos se diagnosticaron antes de los 29 días de nacido, período que incluye un diagnóstico prenatal. Conclusiones: El desarrollo del diagnóstico prenatal de las cardiopatías congénitas ha posibilitado la disminución de la incidencia de las malformaciones más complejas. El conocimiento de las enfermedades congénitas del corazón contribuye a operar de forma segura y con resolución anatómica completa a muchos de estos niños en el período prenatal o cuando son lactantes pequeños, para evitar el deterioro global de estos cuando la cardiopatía no está resuelta(AU)

Introduction: The congenital valvulopatías is a group of entities in which the main alteration anatomofuncional is in the heart valves. Objective: To characterize the pediatric patients with diagnostic of born congenital valvulopatías. Methods: He/she was carried out a retrospective descriptive investigation starting from the registrations of congenital valvulopatías of the service of Cardiology of the Hospital Pediatric University student José Luis Miranda in the period of 2005 at the 2016. The population was conformed by the 147 alive born children with diagnostic of congenital valvulopatías, a sampling was not used intentional probabilístico by approaches, being conformed the sample by 143. The collection of the information was carried out through the documental revision of the clinical histories. Results: The rate of incidence of the congenital valvulopatías was of 1,5 x 1000 born alive, the lung estenosis prevailed containing to 70,6 percent of those diagnosed he/she was prevalence of the masculine sex in 50,3 percent, it was determined that 45,5 percent of the cases was diagnosed before the 29 days where a prenatal diagnosis is included. Conclusions: The development of the prenatal diagnosis of the congenital cardiopatías has facilitated the decrease of the incidence of the most complex malformations. The knowledge of the congenital illnesses of the heart contributes to operate in a sure way and with complete anatomical resolution to many of these children in the prenatal period or when they are small nurslings, to avoid the global deterioration of these when the cardiopatía is not resolved(AU)

Isolated atrioventricular canal defects: birth outcomes and risk factors: a population-based Hungarian case-control study, 1980-1996.

BACKGROUND: The role of possible environmental factors in the origin of congenital heart defects is unclear in the vast majority of patients. The objective of this study was to describe the birth outcomes and risk factors in isolated atrioventricular canal defect (AVCD) cases. METHODS: Medically recorded birth outcomes, maternal age, parity, acute and chronic maternal diseases with related drug treatments and folic acid/multivitamin supplementation were evaluated in isolated AVCD cases. The diagnosis of AVCD was based on the autopsy report or surgical description in the population-based Hungarian Case-Control Surveillance of Congenital Abnormalities, between 1980 and 1996. RESULTS: The birth outcomes and exposures of 77 isolated AVCD cases were compared with 38,151 controls without defect. Mean gestational age at delivery (38.6 week) and birth weight (2992 g), rate of preterm birth (20.8%) and low birthweight (23.4%) of cases with a female excess (59.7%) differed significantly from the controls. Mothers of cases had higher parity, higher prevalence of conduction disorders/cardiac dysrhythmias and chronic hypertension. The high doses of folic acid in early pregnancy associated with a reduced rate of AVCD. CONCLUSIONS: Conduction disorders/cardiac dysrhythmias and chronic hypertension of mothers may have a role in the origin of AVCD, while high doses of folic acid in early pregnancy may reduce the risk of the development of AVCD. Birth Defects Research (Part A) 97:217-224, 2013. © 2013 Wiley Periodicals, Inc.

Descriptive epidemiology of non-syndromic complete atrioventricular canal defects.

BACKGROUND: Complete atrioventricular canal defects (CAVC) are a common heart defect, but few epidemiologic studies have evaluated non-syndromic CAVC. Risk factors for non-syndromic CAVC have not been well established. METHODS: To assess the relationship between risk for non-syndromic CAVC in offspring and several sociodemographic and reproductive parental factors, including maternal diabetes and obesity, we conducted Poisson regression analyses, using data ascertained through the Texas Birth Defects Registry, a large, population-based birth defects registry. Data were evaluated for 563 non-syndromic cases with CAVC. RESULTS: Significant associations were observed between non-syndromic CAVC in offspring and maternal pregestational diabetes (adjusted prevalence ratio (aPR) 6.74; 95% confidence interval (CI) 3.67, 12.37), gestational diabetes (aPR 1.69; 95% CI 1.03, 2.79) and obesity (aPR 1.69; 95% CI 1.24, 2.30). CONCLUSIONS: Our findings add non-syndromic CAVC to the growing list of birth defects that appear to be associated with maternal diabetes and obesity.

Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.

Although the descriptive epidemiology of atrioventricular septal defects (AVSDs), a group of serious congenital heart defects (CHDs), has been recently reported, non-genetic risk factors have not been consistently identified. Using data (1997-2005) from the National Birth Defects Prevention Study, an ongoing multisite population-based case-control study, the association between selected non-genetic factors and non-syndromic AVSDs was examined. Data on periconceptional exposures to such factors were collected by telephone interview from 187 mothers of AVSD case infants and 6,703 mothers of unaffected infants. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated from logistic regression models. Mothers who reported cigarette smoking during the periconceptional period were more likely to have infants with AVSDs compared with non-smokers, independent of maternal age, periconceptional alcohol consumption, infant gestational age, family history of CHDs, and study site (aOR 1.5, 95% CI 1.1-2.4). The association was strongest in mothers who smoked more than 25 cigarettes/day. In addition, mothers with periconceptional passive smoke exposure were more likely to have infants with AVSDs than unexposed mothers, independent of maternal age, active periconceptional smoking, infant gestational age, and family history of CHDs (aOR 1.4, 95% CI 1.0-2.0). No associations were observed between AVSDs and maternal history of a urinary tract infection or pelvic inflammatory disease, maternal use of a wide variety of medications, maternal occupational exposure, parental drug use, or maternal alcohol consumption. If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs.

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.

[Congenital heart disease, maternal age and parental consanguinity in children with Down's syndrome]. / Cardiopathie congenitale, age maternel et consanguinite parentale chez les enfants avec syndrome de Down.

OBJECTIVE: Analyze the role of parental consanguinity and/or maternal age on the occurrence of congenital cardiac anomalies in infants with Down's syndrome (DS). MATERIAL AND METHODS: A large group of patients with or without congenital heart disease, registered between May 1st, 1999 and June 30th, 2006, at the National Register of Paediatric and Congenital Heart Disease, Lebanese Society of Cardiology. 217 children with DS have been enrolled over this period. Group I: DS with cardiac anomalies (n:119). Group II: DS without cardiac anomalies (n:98). The consanguinity rate was compared to a study made in 2000 by UNICEF in Lebanon, in which the consanguinity rate was 14.9% of 1st degree cousins and 25% of all degrees together. RESULTS: Congenital cardiac anomalies were found in 54.2% of babies with DS. First degree cousins in both groups I and II was 143% (close to the general population), and it was lower in group I compared to group II (11.8% and 17.3% respectively ; p = 0.205) ; this difference was not statistically significant for all degrees together. Maternal age ranged from 20 to 47 years, with a mean of 29.5 +/- 5.3 years. The risk of congenital cardiac anomaly was greater (p < 0.05) when maternal age was equal or below 32 years. As in the international literature, complete atrioventricular canal and ventricular septal defect were the most frequent cardiac anomalies. CONCLUSION: In children with DS, the risk of congenital cardiac anomalies was not associated with the parents consanguinity. Maternal age above 32 years seem to be associated with a lesser occurrence of congenital cardiac anomaly in children with DS.

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.

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot.

Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricular canal defect tetralogy of Fallot. All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, duplication 5p, cranio-cerebello-cardiac syndrome, Cantrell syndrome, CHARGE association, VACTERL association, and DiGeorge syndrome related to maternal diabetes. No patients in our series had 22q11 deletion. Tetralogy of Fallot with extreme dextroposition of the aorta was found in seven patients (only one with Down syndrome). Additional cardiac malformations were present in 23 patients (only 11 with Down syndrome). The association between atrioventricular canal defect and tetralogy of Fallot represents a cardiac phenotype with strong genetic characteristics. For this reason, a careful genetic examination is required. Our study confirms the high prevalence of Down syndrome, but also reveals a significant genetic heterogeneity. Additional cardiac defects are prevalent in patients without Down syndrome.

Solitary coronary ostium in the aorta in Syrian hamsters. A morphological study of 130 cases.

BACKGROUND: Solitary coronary ostium in the aorta (SCOA) is a rare anomaly, the pathogenesis of which remains uncertain. The lack of an animal model is one of the reasons why little understanding of this question has been gained. The aim was to examine the coronary distribution patterns associated with SCOA in laboratory inbred Syrian hamsters. METHODS: The study concerns 130 cases detected in a database consisting of 1,202 internal casts of the heart, great arterial trunks, and coronary arteries. RESULTS: In 21 (16.2%) cases, the solitary ostium was located in the left aortic sinus. In a further 58 (44.6%) cases, it was in the right aortic sinus. In the remaining 51 (39.2%) cases, the ostium was in the right side of the ventral aortic sinus of a bicuspid aortic valve. The distribution patterns were classified according to the location of the solitary ostium and the presence, or absence, and course of the main coronary arterial vessels. Overall, 14 categories were established, 10 of which had their counterpart in man. CONCLUSIONS: The findings reported substantiate the use of the present inbred Syrian hamsters for further studying the morphogenesis of the SCOA. The results of a statistical analysis indicate that when a sole coronary ostium becomes established in the aortic root, the development of the resultant anomalous coronary arterial tree tends to happen through preferential pathways. In addition, they indicate that the branching mode of the coronary tree and the condition of the aortic valve are independent traits.

Congenital cardiac disease in children with Down's syndrome in Guatemala.

BACKGROUND: Congenital cardiac disease is the greatest cause of death in patients with Down's syndrome during the first two years of life, with from two-fifths to two-thirds of those with Down's syndrome also having congenital cardiac malformations. The lesions within the heart can be single or multiple. Our objective was to evaluate the frequency and type of such congenital cardiac malformations in patients born with Down's in Guatemala, and to provide baseline information for further research. METHODS: We reviewed all patients with Down's syndrome who underwent a cardiologic screening examination between January, 1997, and December, 2003, in the only department dealing with Paediatric Cardiology in Guatemala. RESULTS: Of the 349 patients reviewed, 189 (54.1 per cent) also had an associated congenital cardiac malformation. The median age at diagnosis was 6 months, with a range from 2 to 13 months. In 152 patients (80.4 per cent), the cardiac lesion was isolated, while 37 patients (19.6 per cent) had multiple defects. The most common single defect was patency of the arterial duct, found in 54 of the 189 patients (28.6 per cent), followed by ventricular septal defect in 27.5 per cent, atrial septal defect in 12.7 per cent, and atrioventricular septal defect with common atrioventricular junction in 9.5 per cent. The most frequent concomitant malformation found co-existing with other congenital cardiac lesions was patency of the arterial duct, found in 17.5 per cent. CONCLUSIONS: As far as we are aware, ours is the first epidemiologic study concerning the frequency and type of congenital cardiac disease found in Guatemalan children with Down's syndrome. The high frequency of patency of the arterial duct, and the differential distribution of the cardiac malformations associated with Down's syndrome among Guatemalan children, differ from what has been reported in the United States of America, Europe, and Asia. This difference warrants further research.

Genetic aspects of atrioventricular septal defects.

Formation of the atrioventricular canal (AVC) results from complex interactions of components of the extracellular matrix. In response to signaling molecules, endothelial/mesenchymal transformations are crucial to normal development of the AVC. Atrioventricular septal defects (AVSDs) can result from arrest or interruption of normal endocardial cushion development. The presence of AVSDs has been associated with chromosome abnormalities, laterality or left-right axis abnormalities, and a variety of syndromes. An AVSD susceptibility gene has been identified in a large kindred with many affected members. Studies of transcription factors and signaling molecules in heart development over the past decade are paving the way for our understanding of the heterogeneous mechanisms of causation of AVSDs.

Epidemiology, and diagnostic and surgical trends in atrioventricular septal defect in Malta.

Atrioventricular septal defect (AVSD) is a common congenital cardiac malformation, associated with Down's syndrome. AVSD causes heart failure, and if not treated early, irreversible pulmonary hypertension. In Malta, a decline in age at diagnosis and at surgery was present from 1944 to 1994. The birth prevalence was 0.31/1000 live births, within the range obtained from a literature review. Down's syndrome children are now treated as are non-syndromic children.

Partial atrioventricular canal defect: long-term follow-up after initial repair in patients > or = 40 years old.

OBJECTIVES: This study was undertaken to determine the results of repair of partial atrioventricular (AV) canal in patients > or = 40 years old. BACKGROUND: Although postoperative outcomes in younger patients have been well documented, the fate of older patients with repaired partial AV canal is less clear. METHODS: From 1958 to 1990, 31 patients 40 to 71 years old (mean age 51) had repair of partial AV canal. Twenty-three patients had repair of the cleft mitral valve; two had mitral valve replacements; and six needed no mitral valve operation. RESULTS: Early mortality was 6%. One patient was lost to follow-up. Nine of the early survivors are known to have died. There is a small but significant development over the long term of atrial arrhythmias, complete heart block, subaortic stenosis, recurrent mitral regurgitation and, rarely, mitral stenosis. Three of the 28 patients available for follow-up had mitral valve reoperation and subaortic stenosis developed in 2. Nineteen patients were alive in 1991 (mean follow-up 14 years). Seven patients were in New York Heart Association functional class I, eight were in class II, and four were in class III. Fifteen of the 19 patients reported sustained postoperative improvement. CONCLUSIONS: Patients > or = 40 years old can have partial AV canal repair with low risk. Long-term survival is good, with subjective improvement in symptoms. Late complications occur but are uncommon, suggesting that long-term follow-up is warranted.

Fixed subaortic stenosis in atrioventricular canal defect: a Doppler echocardiographic study.

OBJECTIVES: The objectives of this retrospective study were to describe the Doppler and echocardiographic features of fixed subaortic stenosis in the setting of atrioventricular (AV) canal defect and to document the de novo occurrence of subaortic stenosis and progression of this lesion over time on the basis of sequential echocardiographic studies. BACKGROUND: The coexistence of fixed subaortic and AV canal defect has been sporadically noted, but no single or multicenter experience with this constellation of abnormalities has been previously described. METHODS: All patients with a diagnosis of subaortic stenosis and complete or partial AV canal defect who had one or more Doppler echocardiographic examinations were identified from a computer data bank. Retrospective analysis was performed, including review of patients' charts, operative notes, recorded videotapes and hard copy recordings when available. RESULTS: Twenty-one patients with both subaortic stenosis and AV canal defect were identified over a 13-year period. Fifteen were female and the mean age at diagnosis of subaortic stenosis was 16 years. Fifteen patients had partial AV canal defect with prior repair in 10; 6 patients had complete AV canal defect with prior repair in 4. The mean interval from prior repair to recognition of subaortic stenosis was 6.8 years. In six patients, serial examinations demonstrated the de novo occurrence of subaortic obstruction over a period of 10 to 87 months. In five patients, progression of known subaortic stenosis was documented over a 10- to 59-month period. Surgical resection of subaortic stenosis was performed in 16 patients; the echocardiographic diagnosis was confirmed in 15 of the 16. CONCLUSIONS: In the largest reported echocardiographic series of this lesion complex, it is concluded that subaortic stenosis can occur de novo, is often recognized only after repair of the canal defect and is progressive. Doppler echocardiography is the method of choice for diagnosis and serial follow-up of these patients.

Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence.

The isolated occurrence of endocardial cushion defect (ECD) has been suggested to differ from its occurrence within the context of a syndrome, with regard to the nature (complete or partial) of the defect and the associated cardiovascular malformations. Analysis of data derived from the Baltimore-Washington Infant Study of congenital cardiovascular malformations supports the observation that "syndromic" ECD tends to be of the complete atrioventricular canal type and is less frequently associated with left cardiac anomalies than the isolated form. However, each syndrome has a unique impact on the overall cardiovascular "phenotype", including the ECD. This is especially true for Down and Ivemark syndromes, which are most frequently associated with ECD, but also for other syndromes as well. It is also suggested that isolated ECD is specifically associated with gastrointestinal and urinary tract anomalies. However, in Down syndrome ECD appears to be a specific cardiovascular expression of the trisomic state that is unrelated to other noncardiac malformations. Additional information on the association of ECD with other less common genetic syndromes is needed in order to further investigate the possible genetic basis of this cardiac defect.

Birth weight and cardiovascular malformations: a population-based study. The Baltimore-Washington Infant Study.

Mean birth weights were evaluated in infants with D-transposition of the great arteries, tetralogy of Fallot, endocardial cushion defect, hypoplastic left heart syndrome, pulmonary stenosis, aortic stenosis, coarctation of the aorta, ventricular septal defect, and atrial septal defect in a population-based case-control study of congenital cardiovascular malformations in residents of Maryland, Washington, D.C., and northern Virginia (1981-1987). Study subjects were liveborn singletons without extracardiac anomalies. After adjustment for potentially confounding maternal, gestational, and infant factors, significant birth weight deficits were found for infants with tetralogy of Fallot, endocardial cushion defect, hypoplastic left heart syndrome, pulmonary stenosis, coarctation of the aorta, ventricular septal defect, and atrial septal defect. After adjustment, infants with these malformations (except coarctation of the aorta and atrial septal defect) were also significantly more likely than were controls to have low birth weight for gestational age. These findings strengthen previous evidence that certain cardiovascular malformations and low birth weight may be causally related.

Natural and modified history of complete atrioventricular septal defect--a 17 year study.

We reviewed 103 cases of isolated complete atrioventricular septal defect. These cases represented 4.4% of the cases of congenital heart disease diagnosed in our hospital by catheterisation and angiography during 1971-88. Most children (n = 76) had Down's syndrome. Banding of the pulmonary artery was performed in seven cases and complete repair in 67 cases. In the period 1971-82 the complete correction was performed at a mean age of 23 months with a surgical mortality of 88.8%. In the period 1983-8 the mean age at complete correction was 13 months, the mortality 43.2%, and the five year actuarial survival was 46.8%. The 22 patients that survived after complete correction were in functional classes I and II of the New York Heart Association classification. After a mean follow up of 10 years only eight (36%) of the 22 who were followed up and treated medically survived; all had developed pulmonary vascular obstructive disease and were in functional classes III or IV. Our findings stress the importance of early complete surgical repair.

[Reoperation following correction of partial defects of the endocardial cushion (indication, incidence, results)]. / Zweiteingriffe nach Korrektur partieller Endokardkissendefekte (Indikation, Häufigkeit, Ergebnisse).

In the period between 1955 and 1982, 297 patients underwent surgical correction of a partial AV-canal. Closure of the ostium primum defect was performed either by direct suture or by patch (prosthetic material or pericardium). Only in cases with severe mitral incompetence was the cleft in the anterior leaflet of the mitral valve surgically treated. At an average of 6 years (range: 3 months - 22 years) after the initial procedure 21 patients (7.8 per cent) underwent reoperation. In 20 patients reoperation was necessary for hemodynamic reasons (recurrence of ASD: n = 8; severe AV-valve regurgitation: n = 3; or both: n = 9). One patient with moderate mitral valve incompetence suffered from severe "patch-hemolysis" due to direction of the blood-jet towards the prosthetic patch. Residual or recurrent atrial septal defects were closed by using a patch in cases with previous direct suture (39 patients - 8 reoperations) or by reinsertion or enlargement of the present patch (258 patients - 13 reoperations). AV-valve incompetence could be treated in all cases but two with reconstructive methods. In two patients implantation of a prosthetic valve was necessary. In the single case with "patch-hemolysis" the previous prosthetic patch was replaced by a pericardial one, together with a suture of the mitral cleft 3 months after operation. Mortality of reoperation was 14.5 per cent (3 early deaths). Major complications in the surviving patients did not occur, with one exception: one patient with postoperative total AV-block received a permanent pacemaker.