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PubMed2006

Immune response to allograft implantation in children with congenital heart defects.

Cryopreserved valved allografts are frequently used in the repair of congenital heart defects in children. Although the longevity of these grafts is generally good in most patients, there continue to be ongoing problems with allograft dysfunction and subsequent failure, particularly in infants and young children. The aim of this review is to discuss the immunogenicity of cryopreserved allograft tissue and measures that may minimize the deleterious effect of the immune system on allograft function and durability.

Antibody Formation↗
PubMed2004

The care of adult patients with congenital heart defects: a new challenge.

The aim of the present article was to point out some of the more common challenges and needs for adult patients with congenital heart defects. We may reasonably calculate a population approximating 80,000 to 100,000 patients in Italy. The profile of this patient population will change over the next few decades. Not all congenital heart defects require the same level of expertise; for this reason an integrated national service is required. Ideally, specialist units should be established in appropriate geographic areas; complex patients need to be grouped according to the expertise, experience and management they require. Less specialized regional centers and outpatient clinics in interconnected districts with GUCH units should be created. Specialist units should accept responsibility for educating the profession, training the specialists, and sharing particular skills between each other. The debate on this subject is far from over; we wish to contribute to and stimulate the discussion.

Adult↗
PubMed2003

Advances in transcatheter patch occlusion of heart defects.

UNLABELLED: The transcatheter patch device consists of the following components: a sleeve type polyurethane patch, a double balloon support catheter and a retrieval thread. It has been applied in a variety of heart defects, including various types of atrial septal defects, ventricular septal defects and patent ductus arteriosus. New advances include an accelerated release time for many applications and better immobilization. Using accelerated fibrin formation principles, transcatheter path release time has been decreased to less than 24 hours for patient ductus arteriosus and some ventricular septal defects; in contrast 48 hours are required for patch release in large atrial septal defects. The device is also unlikely to move away from the septum using the new immobilization methods. Since the patch is inflatable, only three sizes are required for the occlusion of all defect types and sizes. CONCLUSION: In conclusion the transcatheter patch is applicable in a variety of heart defects; the procedure is safer and faster, becoming outpatient, for many applications. Furthermore, it is cost effective.

Adolescent↗
PubMed1999

Congenital heart defects and maternal derangement of homocysteine metabolism.

Methionine loading tests and folate, vitamin B(6), and vitamin B(12) analyses were performed in 27 mothers of children with congenital heart defects. Median fasting plasma homocysteine concentrations were significantly higher in the study group as compared with 56 control subjects (P =.0001). Maternal hyperhomocysteinemia may be a risk factor for congenital heart defects.

Adult↗
PubMed1982

[Value of chest x-ray films in the diagnosis of congenital heart defects in infants].

The respiratory distress and suspicion of the heart defects in newborns and infants is indicated by x-ray chest examinations. The right interpretation of the x-ray pictures is very important but it must be followed by other diagnostic procedures. In every child it is possible to take the linear measurements of the great vessels and arteries in parahilar lung areas as well as the heart and chest in two dimensions from x-ray plain films. The measurements let to establish the indices: cardio-thoracic (ICP), vasculo-cardiac (IVC) and sagittal one (IS), which play important role in radiological evaluation of the chest. It results from the investigated material, that the evaluation of the pulmonary vascular pattern and the indices particularly facilitate the diagnosis of heart deformities coexisting with higher blood flow in pulmonary circulation. Nevertheless the measurements and the indices play the relative role in establishing of the final opinion about the chest and should be considered together with clinical and cardiological data.

Anthropometry↗
PubMed1997

Congenital heart defects: natural course and in utero development.

BACKGROUND: Most congenital heart defects (CHDs) are diagnosed on targeted prenatal transvaginal (TVS) or transabdominal (TAS) ultrasonography during the early second trimester or at midgestation. Nevertheless, delayed diagnosis in some cardiac malformations still remains despite detailed echocardiographic examination. The present study was conducted to evaluate the evolution of fetal cardiac anomalies and assess their development in utero. METHODS AND RESULTS: We retrospectively reviewed 22,050 pregnant women who were divided into two groups: 6924 who had initial TVSs at 13 to 16 weeks' gestation, followed by TASs at 20 to 22 weeks, and 15,126 who had initial TASs at 20 to 22 weeks. Both groups were subsequently examined in their third trimester. All newborns were examined by certified pediatricians. CHD was diagnosed in 168 babies: 66 in group A and 102 in group B. In group A, 42 malformations (64%) were detected at the first TVS examination, and 11 (17%) were found during the subsequent TAS. Three additional anomalies (4%) were found during the third trimester, and 10 malformations (15%) were detected postnatally. In group B, 80 malformations (78%) were detected in the initial examination at midtrimester, and an additional 7 (7%) were found in the third trimester, whereas 15 (15%) were diagnosed postnatally. The 10 anomalies (group A, n=3; group B, n=7) that were detected only during the third trimester comprised aortic stenosis (n=2), cardiac rhabdomyoma (n=2), subaortic stenosis (n=1), tetralogy of Fallot (n= 1), aortic coarctation (n=1), sealed foramen ovale (n=1), ventricular septal defects (n=1), and hypertrophic cardiomyopathy (n=1). CONCLUSIONS: Although most fetal cardiac anomalies are detectable early in gestation, some may evolve in utero at different stages of pregnancy.

Adolescent↗
PubMed1997

Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.

We report a series of five patients with congenital heart defects in whom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed postnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial trunk, and left atrial isomerism with double outlet right ventricle. The problems of genetic counselling in these cases are discussed. A recommendation is made to test all fetuses with conotruncal heart abnormalities detected prenatally for a 22q11 deletion, whereas guidelines for other congenital heart disease types are less clear.

Chromosome Deletion↗
PubMed2007

Immediate and long-term outcomes in children with prenatal diagnosis of selected isolated congenital heart defects.

OBJECTIVES: To compare the immediate postinterventional and long-term outcomes of children with a prenatal and those with a postnatal diagnosis of isolated congenital heart defects. METHODS: This was a retrospective study of 257 children admitted over a 10-year period to our pediatric cardiology unit with one of four different cardiac lesions: transposition of the great arteries, atrioventricular canal defect, tetralogy of Fallot and pulmonary atresia; 208 were diagnosed postnatally and 49 prenatally. Management was identical in the two patient groups. RESULTS: The median age at admission was 22 days in the postnatal group and 10 days in the prenatal group. In the prenatal group there was a higher median preoperative O2 saturation level (P=0.07), fewer cases of preoperative cardiac failure (P=0.03), fewer cases of preoperative closure of the duct (P=0.04), a shorter median duration of postoperative mechanical ventilation (P=0.03), less need for resurgery (P=0.02) and a shorter median duration of stay in the intensive care unit (P=0.05). Postoperative survival was 96% in the prenatal group and 90% in the postnatal group. Assessment of long-term survival revealed a longer catheter intervention-free interval in the prenatal group (P=0.03). At the 1-year follow-up, residual impaired cardiac function was less frequent in the prenatal than in the postnatal group (P=0.04). Overall survival at maximum follow-up was 92% in the prenatal and 84% in the postnatal group. CONCLUSIONS: Prenatal diagnosis of isolated congenital heart defects allows admission for surgery in a more stable condition and is associated with lower short-term and long-term morbidity and mortality.

Child↗
PubMed1995

Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant.

We describe an infant with a deletion of 8q21-->22 who had distinct clinical manifestations including minor facial anomalies, a congenital heart defect, a Dandy-Walker variant, and mild to moderate developmental delay. Her facial characteristics included small, wide-spaced eyes, asymmetric bilateral epicanthal folds, a broad nasal bridge, a "carp-shaped" mouth, micrognathia, and prominent, apparently low-set ears. Three other reports describe children with larger proximal deletions of 8q that include 8q21 and q22. These four children all have similar facial appearance. Of the others reported, one had a congenital heart defect and one had craniosynostosis. This case, in addition to the previously noted three cases, helps in delineating a recognizable syndrome.

Abnormalities, Multiple↗
PubMed1998

[Surgical treatment of congenital heart defects in adults].

Of 73 patients with congenital heart diseases (CHD), aged from 16 to 82 years, operated on in 1977-1998 yrs., there were 41 women and 32 men. Fourteen (19.6%) of patients were 60 years old or older. Complex CHD were revealed in 27 (37%) of patients, an ischemic heart disease-in 8 (11%). There were no intraoperative mortality. Complications have occurred in 2 patients. Late follow-up results (in terms from 4 months till 20.5 years) were studied in 71 patient. One patient died in 7 years because of another cause, the state of the rest of the patients is good or satisfactory.

Adolescent↗
PubMed1997

Quality of life in children with congenital heart defects.

Quality of life was measured in children with congenital heart defects (CHDs) registered in a total population of infants born live in the period 1982-91 (n = 22,810), using essential life spheres: external living conditions, interpersonal and personal conditions. In 200 children with CHD alive at the time the investigation was performed, 164 (82%) of the families answered a questionnaire addressing different dimensions of these quality of life spheres. Three subgroups of CHDs were investigated: CHDs spontaneously cured (n = 80), CHDs treated by surgery (n = 56), and CHDs with associated syndromes/malformations (n = 29). 301 (75%) out of 400 controls, matched for age and habitat (county), answered the same questionnaire. The children's ages at investigation were 2 y 2 months-12 y 2 months (median 6 y 1 month). There were no statistically significant differences between the CHD groups and the controls for overall quality of life for any of the three life spheres (p > 0.05). In children with operated CHDs and CHDs associated with syndromes/malformations, quality of life was influenced at some aspects of the external as well as at the interpersonal and personal levels. A trend existed for a higher subjective experience of quality of life in the total CHD group as well as in all the subgroups. It is speculated that this may represent development of coping mechanisms and recalibration of values of life.

Abnormalities, Multiple↗
PubMed2003

Reoperations and survival after primary repair of congenital heart defects in children.

OBJECTIVE: The objective of this article is to evaluate the incidence of reoperation and the associated risk and survival after primary repair of congenital heart defects using cardiopulmonary bypass in children. METHODS: We present a retrospective analysis of 1220 consecutive children under 16 years [649 (53%) under 1 year] operated on between 1976 and 2001 by 1 surgeon (J.L.M.). RESULTS: The early (30-day) mortality was 6.9%; 171 patients had 206 reoperations. The early mortality for the first reoperation was 10.4% and for second reoperation, 3.8%. Of the first-time reoperations 63% were inevitable, 15% were planned, and 22% were unexpected. The overall 20-year freedom from reoperation was 83% and survival (including early mortality) was 86%. The 10-year freedom from reoperation and survival, respectively, was as follows: aortic valvotomy, 77% and 92%; pulmonary valvotomy, 90% and 95%; atrial septal defect, 99% and 100%; partial atrioventricular septal defect (AVSD), 81% and 94%; complete AVSD, 74% and 70%; VSD, 95% and 97%; double-outlet right ventricle, 66% and 68%; truncus arteriosus, 54% and 71%; Mustard, 85% and 86%; arterial switch, 78% and 74%; Fontan, 77% and 66%; Fallot, 91% and 93%; and total anomalous pulmonary venous drainage, 89% and 84%. Of those undergoing aortic valvotomy, 53% were infants, but when aortic valve replacement became necessary an adult valve could be inserted. Introduction of the total cavopulmonary connection to the Fontan procedure in 1990 with prior cavopulmonary anastomoses has greatly improved outcome, with only 1 reoperation and no deaths since then. Patients with AVSD required 12 reoperations for mitral regurgitation, mostly through the "cleft," the closure of which in the past 5 years has provided promising results. CONCLUSIONS: The majority of reoperations after repair of congenital heart defects in children are inevitable, and their incidence varies for different types of procedures. These findings will help in informing parents about the possible outcome of surgery, but the introduction of newer techniques may reduce the need for reoperation further. The survival is encouraging.

Adolescent↗
PubMedDate not supplied

The role of profound hypothermia in infants undergoing surgical correction of complicated heart defects.

A series of 110 children, ranging in age from 2 days to 4 years and in weight from 2.4 to 12.9 kg, underwent total surgical correction of complicated heart defects with the aid of profound hypothermia and total circulatory arrest. Combined surface and core cooling, in conjunction with light general anesthesia, proved to be a safe and effective method to provide optimal working conditions for the surgeon. The technic of cooling and rewarmining, as well as hemodynamic and metabolic parameters monitored, are important, and factors such as type of heart defect, age, weight should be considered in relation to postoperative morbidity and mortality.

Age Factors↗
PubMed2006

The examiner's ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination.

OBJECTIVES: To determine whether training and experience in performing ultrasound examinations are factors that influence the prenatal detection of congenital heart defects (CHDs) in a non-selected population, in order to evaluate and improve the current training program. METHODS: All pregnant women who received a routine second-trimester ultrasound scan by a sonographer/midwife and delivered at our hospital between February 1991 and December 2001 were registered prospectively. Less experienced sonographer/midwives who had performed between 200 and 2000 routine examinations were compared with experienced sonographer/midwives who had carried out more than 2000 examinations. During the first 5 years of the study the heart structures obtained were registered in detail. RESULTS: Of 29,035 fetuses, 35/82 (43%) major CHDs were prenatally detected at the routine examination. The experienced sonographer/midwives obtained both the four-chamber view and the great arteries in 75%; the figure for the less experienced sonographer/midwives was 36% (P < 0.001). The differences in detecting major heart defects were 22/42 (52%) and 13/40 (32.5%), isolated CHDs 8/18 (44%) and 6/22 (27%) and CHDs with associated malformations 14/24 (58%) and 7/18 (39%), respectively. In both groups some CHDs with an abnormal four-chamber view were missed, although the experienced sonographer/midwives recognized significantly more of the abnormal views than did the less experienced sonographer/midwives (P = 0.002). CONCLUSIONS: Experience has a significant impact on the examination of the fetal heart and the prenatal detection rate of major CHDs. To avoid a relatively long learning curve, ultrasound education needs to intensify the teaching of the basic four-chamber view. The great arteries should be included after additional training. Those basic views of the fetal heart must be mastered before new views and advanced technology are added to the fetal heart examination.

Adult↗
PubMed2004

Correction of congenital heart defects in Jehovah's Witness children.

UNLABELLED: Between August 1989 and July 2003 14 Jehovah's Witness children with congenital heart defects (CHD) aged under 14 years (median 2.9 years) and with a median weight of 14 kg underwent 16 operations with cardiopulmonary bypass (CPB). Five children had been operated on previously between one to three times. Preoperatively, 7 children were prepared with oral iron supplementation and 10 received erythropoietin. Mean hemoglobin (Hb) at admission was 14.4 g/dl (range 10.9 - 19.2). The cardiopulmonary bypass (CPB) circuit was modified to reduce total priming volume. High doses of aprotinin were administered. The modified ultrafiltration (MUF) circuit, used in 7 patients, was parallel to the ECC circuit with continuous circulation of the blood through a small shunt between the arterial and venous lines. Operations performed consisted of VSD closure (3 pts.), ASD closure (3 pts.), Fontan operation (2 pts.), and complete AV canal correction, aortic commissurotomy, Ross operation, Glenn shunt, cor triatriatum correction, MV reconstruction combined with left outflow tract stenosis resection, correction of absent pulmonary valve syndrome, and correction of tetralogy of Fallot in one patient each. There were no deaths. Mean duration of CPB was 192 min and mean aortic cross-clamp time 40 min. The Hb value at the end of the operation was 4.9 - 14.5 g/dl (mean 9.6) and at discharge it was 7.1 - 14.5 g/dl (mean 15.5). No blood or blood products were used in any patient. CONCLUSION: Bloodless cardiac surgery with and without CPB can be safely performed in Jehovah's Witness infants and children.

Aprotinin↗
PubMed2006

The role of nuchal translucency in the screening for congenital heart defects.

OBJECTIVE: Assess the accuracy of the nuchal translucency (NT) measurement between 11 and 13 weeks and 6 days of gestation as a sonographic marker to screen for congenital heart defects (CHD). METHODS: This is a multi-center retrospective study in which singleton gestations of euploid fetuses were analyzed. NT measurement was performed in the first trimester examination when the fetal crown-rump length (CRL) was 45 to 84 mm, according to the criteria established by the Fetal Medicine Foundation. The cases were followed up to one month postpartum to assess the presence of CHD. RESULTS: Three thousand six hundred and sixty four gestations were analyzed, of which twenty newborn infants had some congenital heart defect up to the first month of life (prevalence of 0.55%). The median NT in fetuses with CHD was 1.70 mm, and 1.60 mm in fetuses without CHD. However no statistically significant difference was observed between the two medians (Mann-Whitney test, p > 0.05). The NT sensitivity to detect CHD ranged from 15% to 20%, with a probability of false positive cases of 86.4% to 97.9%, depending on the cut-off point used. Odds ratio for CHD was high when compared to the classical indications for fetal echocardiography, ranging from 4.7 to 33.7, according to the cut-off point used. CONCLUSION: Despite the low sensitivity of the test, increased NT is an important risk factor for CHD, and should be included in the strategy of prenatal screening for these diseases.

Adolescent↗
PubMedDate not supplied

Ruptured aneurysm of the sinus of Valsalva into the right atrium. An uncommon congenital heart defect.

Rupture of an aneurysm of the sinus of Valsalva is an uncommon heart defect. A continuous murmur may be the first clinical sign of this rupture. Additional imaging techniques, and in the first place echocardiography, can be used to confirm the diagnosis. We present a case where, at the age 53 years, the diagnosis was made of a ruptured sinus of Valsalva into the right atrium, with a typical windsock image on echocardiogram. Although several cases of a ruptured sinus of Valsalva are reported in the literature, it is still an underdiagnosed condition because it is frequently missed during physical examination.

Aortic Aneurysm↗