Complex Cardiopathy Research Articles

Lo stroke neonatale: le cause, i sintomi, la diagnosi e la gestione.

The paper reports the case of a term newborn who presented with focal seizures at 24 hours of age and was diagnosed with neonatal stroke upon the suspicion raised by the cranial ultrasound performed at 24 hours, confirmed by the brain MRI 96 hours past the acute events. Seizures are one of the most common presentations of neonatal stroke; however, they may be subtle and difficult to recognize and may go unnoticed in the newborn. In the neonatal period, especially in the first few days, suspected or confirmed seizures always need to be properly investigated as generally they are secondary to other underlying causes which need to be ruled out (hypoglycaemia, metabolic acidosis, hyperammoniemia, sepsis, etc.). The stroke incidence in the neonatal period is relatively high (1:3,500), including the perinatal, neonatal, presumptive forms and it is crucial to prompt the diagnosis in order to organize a dedicated follow-up involving different specialists and optimize the potential outcome. Recent reviews have confirmed risk factors such as nulliparity and male sex, as well as complex cardiopathy, however literature does not demonstrate the direct causality of events such as operative vaginal delivery and resuscitation at birth.

Echocardiography-computed tomography fusion imaging: a new approach for congenital heart disease

Abstract Introduction Diagnosis, management and surgical decision making in children and adults with congenital heart disease are based on echocardiography. One of the most recent developments in cardiac imaging is “fusion” of different imaging modalities. Our objective was to evaluate the feasibility of imaging fusion between computed tomography (CT) and 3D trans-thoracic echocardiography (TTE) in children and adults with congenital heart disease. Methods Fourteen patients with congenital heart disease who had a CT and a 3D TTE (9.5 years [2.7–15.7], 57% male, BSA 0.9 m2 [0.6–1.7]) were prospectively included for their usual monitoring in our center. Congenital heart disease was classified as simple (n=4, 29%), moderate (n=4, 29%) or complex (n=6, 42%). A full-volume 3D heart acquisition on three cycles was performed using a VividTM E95 GE. Image fusion between CT and TTE was done using General Electrics (GE) Fusion Software. Steps required for images importation, for fusion process (alignment, landmarks, superposition), navigation and analysis were described. Results Fusion imaging between 3D TTE and CT was successful for all patients and superposition was good with a median scored at 8.5/10. Median total time required to complete the fusion process was 735 seconds [628–1163], without significant difference according to the degree of complexity of the cardiopathy. Landmarks were significantly placed differently from the reference landmarks in complex congenital heart disease. For complex cardiopathy, navigation into the heart at the same time with multiple modalities demonstrate its interest, for diagnosis or for planning surgery. Conclusion We have investigated the feasibility and the accuracy of imaging fusion between 3D TTE and CT in a varied population of patients with congenital heart disease, from children to adult. These advances allow simultaneous visualization of intracardiac structures and may help in understanding the complex anatomy of congenital heart disease, without limitations in terms of age, weight or type of congenital heart disease. Funding Acknowledgement Type of funding sources: None. Validation of fusion imagingNavigation in fusion imaging

Retrograde Transcatheter Perforation in Adult with Pulmonary Atresia and Single Ventricle: A Unique Case of Ventricular Outflow Tract Opening

Radiofrequency-assisted perforation and subsequent balloon dilatation technique is accepted for treating pulmonary stenosis and pulmonary atresia in patients with intact interventricular septum, but its high cost limits the widespread use. Perforation of the atretic pulmonary valve using the stiff end of a coronary wire seems to be an effective alternative to the radiofrequency perforation. We report on a 47-year-old man with a complex cardiopathy including a pulmonary valve atresia, who underwent a partial surgical repair. Due to high surgical risk, a completion could not be foreseen and a percutaneous retrograde perforation of the pulmonary valve was proposed. The perforation was managed by means of BMW wires with stiff tip from the right internal jugular vein because the femoral vein access was not accesible. Following three Armada balloon inflations, an Express stent was properly introduced to keep the ventricular outflow tract (VOT) open. We describe a successful unusual technique of atretic pulmonary valve percutaneous retrograde perforation that can be an efficient alternative when surgery or anterograde percutaneous access are not possible.

Implantable cardioverter defibrillators in adult congenital heart disease: long-term follow up of therapies, complications and clinical events

Abstract Funding Acknowledgements Type of funding sources: None. Introduction Adults with congenital heart disease (ACHD) at increased risk for sudden cardiac death (SCD) often undergo implantable cardioverter defibrillator (ICD) implantation at young ages. Data evaluating the long-term outcomes of ICD in this population remain scarce. We aimed to characterize the population with ACHD and an ICD. Methods Consecutive ACHD submitted to an ICD implantation in a single tertiary center were evaluated. Data on baseline clinical features, heart defect, indication for ICD, type of device, ICD-related complication and therapies and mortality during follow-up were collected. Results A total of 34 patients (P) were evaluated. Median age at implant was 39.3 years (interquartile range [IQR] 29-5-53.6) and median left ventricular ejection fraction (LVEF) was 43.5% (IQR 28.0-53.3). The most common heart defect was tetralogy of Fallot (11P;32,3%), followed by dextro-transposition of the great arteries, ostium secundum atrial septal defect (ASD) and ventricular septal defect (Figure 1). All P were submitted to surgical correction (median age at surgery 12.5 years [IQR 3.0-29.1]). Sixteen P underwent ICD implantation for primary prevention of SCD, owing to complex cardiopathy and ventricular dysfunction, and 18P due to spontaneous ventricular tachyarrhythmias. The implantable devices were a single-chamber ICD in 55.9%, a double-chamber ICD in 17.6%, a subcutaneous ICD in 20.6% and a CRT-D in 5.9%. During a median follow-up of 4.5 years (IQR 2.1-8.8), 52.9% of the P received appropriate ICD therapies, corresponding to 37.5% and 66.7% of primary and secondary prevention P, respectively. Median time to first arrhythmic event was 25.3 months (IQR 13.7-52.9). Six P (17.6%) suffered ICD-related complications and 20.6% received inappropriate therapies due to supraventricular tachyarrhythmias. During follow-up, 8.8% were submitted to heart transplant and 29.4% died (Table 1). ICD therapies were associated with a composite of death, cardiac transplantation and hospital admission (OR 5.0, 95% CI 1.0-24.3). Conclusion ACHD with ICD experience high rate of appropriate therapies, including those implanted for primary prevention. The long-term burden of ICD-related complications and inappropriate shocks underlines the need for careful risk stratification and close monitoring. The increased survival of this population justifies collecting data on long-term outcomes to improve its care. Abstract Figure.

It Is a Wrap! Or Is It?: The Role of Fundoplication in Infant Feeding Intolerance.

Purpose: Fundoplication is one of the most common procedures performed by pediatric surgeons, frequently for gastroesophageal reflux with feeding intolerance. No consensus exists in its management, with multiple institutions opting for medical therapy over surgical intervention. Methods: A case-based survey was administered at a national pediatric surgery conference. Clinical vignettes described former-premature infants with reflux and feeding intolerance with or without failure to thrive (FTT), neurological impairment, complex cardiopathy, and respiratory symptoms. Odds ratios (ORs) for fundoplication were calculated from participants' responses. Results: Surgeons elected to perform fundoplication in 14%-74% of cases. The OR for performing fundoplication in the presence of FTT was 1.84 (confidence interval [CI] 1.34-2.54, P = .0002) overall, achieving significance in subgroup analysis for cardiopathy (OR 3.56, CI 1.88-6.71, P = .0001) and neurological impairment (OR 1.79, CI 1.04-3.07, P = .04), but not in the absence of these comorbidities (OR 1.05, CI 0.61-1.83, P = .86). The OR for fundoplication in the presence of neurological impairment was 1.97 (CI 1.34-2.90, P = .0005) and that for cardiopathy was 1.70 (CI 1.20-2.40, P = .003), independent of FTT status. In subgroup analysis, the greatest predictors for fundoplication were neurological impairment with FTT (OR 2.63, CI 1.55-4.48, P = .0004) and complex cardiopathy with FTT and cough/syncope (OR 7.14, CI 4.05-12.58, P < .0001). Presence of cardiopathy without FTT had the overall lowest odds of fundoplication (OR 0.40, CI 0.21-0.78, P = .006). Conclusion: Surgeons tend to perform fundoplication in the presence of FTT and other comorbidities, particularly when these are concurrent. Respiratory symptoms are a strong predictor for fundoplication in patients with complex cardiopathies.

22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features.

Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay). Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe. Results: Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12). Conclusion: In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families.

22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features.

Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies.Objective: We looked for a 22q11.2 deletion in Mexican patients with craniofacial dysmorphisms suggestive of DiGeorge or velocardiofacial syndromes and at least one major phenotypic feature (cardiac anomaly, immune deficiency, palatal defects or development delay). Methods: A prospective study of 39 patients recruited in 2012-2015 at the Instituto Mexicano del Seguro Social at Guadalajara, Mexico. The patients with velocardiofacial syndrome-like features or a confirmed tetralogy of Fallot (TOF) or complex cardiopathy were studied by G-banding and fluorescence in situ hybridization (FISH) with a dual TUPLE1(HIRA)/ARSA or TUPLE1(22q11)/22q13(SHANK3) probe, six patients without the 22q11.2 deletion (arbitrarily selected) were tested with the dual DiGeorge II (10p14)/D10Z1 probe. Results: Twenty-two patients (7 males and 15 females) had the 22q11.2 deletion and 17/39 did not have it; no patient had a 10p loss. Among the 22 deleted patients, 19 had congenital heart disease (mostly TOF). Twelve patients without deletion had heart defects such as TOF (4/12), isolate ventricular septal defect (2/12) or other disorders (6/12). Conclusion: In our small sample about ~56% of the patients, regardless of the clinical diagnosis, had the expected 22q11.2 deletion. We remark the importance of early cytogenetic diagnosis in order to achieve a proper integral management of the patients and their families.

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.

MG-122 Cytogenetic characterisation of 3 small supernumerary chromosomal markers in a 1 year-old girl

Background The frequency of small supernumerary chromosomal markers (sSCM) are estimated to be ˜0.03–0.15% and are not necessarily always associated with clinical phenotypes. Their characterisation is important since they can be helpful in establishing phenotype-genotype correlations, which is essential for genetic counselling. Objectives Cytogenetic and phenotype-genotype characterisation of 3 sSCM in a 1 year-old girl exhibiting growth delay and complex cardiopathy. Design/method Array-CGH and FISH analyses were performed. Literature review was also completed in order to find a genotype-phenotype relationship in this patient. Results We found three regions of duplication, all near the centromeric region from the short chromosome arm on band q12. The first duplication was localised on chromosome 4q12 and represented a region of 5.4 Mb consisting of 326 oligonucleotides with ˜40 genes. The second duplication was on chromosome 11q12 and corresponded to a region of 1.6 Mb consisting of 84 oligonucleotides with also ˜40 genes. However, this latter duplication was much weaker and therefore probably present in mosaic. The third duplication on 12q12 was characterised by a region of 0.8 Mb with 23 oligonucleotides and included only two genes. These results were further confirmed by FISH analyses on metaphases, which revelled three distinct sSCM in this patient. The markers der (4) and der (12) were found in all cells, whereas the der (11) was absent in most cells. FISH analyses on parents revealed that these anomalies were de novo . Conclusions Remarkably, the de novo character of these three sSCM reflects the complex nature of genomic imbalances possible during embryogenesis.

Prolonged warm ischemia for transfusion-free arterial switch and ventricular septal defect surgery in a 4.5-Kg baby

Blood-free pediatric surgery is increasingly used for surgical correction of simple cardiopathies. Herein, we describe a complex cardiopathy, arterial switch operation and ventricular septal defect, with pre-operative thrombocytopenia in a 4.5 Kg baby treated with warm surgery and intermittent warm blood microplegia without any blood product. Bypass time was 89 min and aortic cross-clamp time 61 min. The maximal length of warm ischemia (time between microplegia injections) was 42 minutes. The postoperative course was uneventful. The patient was weaned off the ventilator after 7 hours, was discharged from the ICU on day 2 and was discharged from the hospital on day 7. The two main factors involved in this result were high pre-operative hemoglobin level and bypass technique with small prime volume, microplegia and warm perfusion. However, the success of this challenging case is also the result of teamwork and of rigorous patient care.

Severe form of hypoglossia–hypodactylia syndrome associated with complex cardiopathy: A case report

Hypoglossia is a rare congenital anomaly and is frequently associated with limb anomalies. In 1971, Hall employed the term hypoglossia–hypodactylia syndrome for the classification of these oromandibular-limb hypogenesis syndromes. The syndrome is characterized by hypoglossia, micrognathia mandible and variable degrees of limb abnormalities, frequent gingival abnormalities, and an absence of mandibular incisors. We describe an unusual case of hypoglossia–hypodactylia syndrome. The newborn had hypoglossia, limb defects and complex congenital cardiopathy, which has to date never been reported to be associated to this syndrome.

Total Anomalous Pulmonary Connection With an Unusual Drainage

A male infant was born at term with a complex cardiopathy. A detailed cardiac ultrasound examination showed dextroisomerism, a total anomalous pulmonary connection with an unusual drainage pattern, a double-outlet right ventricle, and moderate pulmonary stenosis.

Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases

Progressive familial intrahepatic cholestasis (PFIC) and to a lesser extent, Alagille syndrome, often lead to end-stage liver disease during childhood. We report our experience of DNA-based prenatal diagnosis of PFIC1-3 and Alagille syndrome. Four molecular antenatal diagnoses were performed in 3 PFIC families and 17 in 11 Alagille syndrome families. DNA was isolated from chorionic villus or cultured amniocyte samples from women, without pregnancy complications. All four foetuses with a family history of PFIC1, 2, or 3 were heterozygous for an ATP8B1, ABCB11, or ABCB4 mutation and pregnancies were continued. Three of the infants were healthy after birth, and 1 premature infant, who had an ABCB4 mutation, experienced transient neonatal cholestasis. Among the families with a history of de novo JAG1 mutation, none of the foetuses was mutated, versus 40% of those with a history of familial mutation. Of 4 pregnant women with a JAG1-mutated foetus, 3 cut short their pregnancy and 1 gave birth to a child with overt Alagille syndrome. Molecular antenatal diagnosis of PFIC1-3 and Alagille syndrome is reliable because clinical outcome after birth corresponded to molecular foetal data.

Polysyndactyly, complex heart malformations cardiopathy, and hepatic ductal plate anomalies: an autosomal recessive syndrome diagnosed antenatally.

A distinct syndrome was ascertained in a 3-year-old girl and her brother. The proband was the first child of first cousin parents. She was born after an uneventful pregnancy. At birth, multiple congenital anomalies were noted: ptosis of the left eyelid, hypertelorism, anteverted nares, large fontanel, long philtrum, ungueal hypoplasia, polysyndactyly, single transverse crease, complex cardiopathy, and hepatic cysts. During another pregnancy of the mother, fetal ultrasonographic examination showed an hypertrophy of the right ventricle and atria, a dextroposition of the aorta, a bilateral renal pelvis dilatation, and a club foot. After termination of the pregnancy, necropsy showed facial anomalies, a small penis, a polysyndactyly, a ventricular septum defect, and a malformation of the ductal plate. Bonneau et al. [1983: J Genet Hum 2:93-105] described a family in which three sibs had a complex cardiac malformation, hexadactyly of the first toe, and syndactyly of the third and fourth fingers. Rajab [1997: Clin Dysmorphol 6:85-88] described two sibs with similar features in an Omani family. The sibs described in this report had anomalies of the ductal plate which were not reported in the two other families. These new findings are in favor of autosomal inheritance of this condition which is amenable to antenatal diagnosis.

Prenatal diagnosis ofde novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy