Atrial fibrillation following transcatheter atrial septal defect closure: a systematic review and meta-analysis

ObjectiveThe ostium secundum atrial septal defect (ASD) is among the most common congenital cardiac anomalies diagnosed in adulthood. A known complication of transcatheter ASD closure is the development of new-onset atrial fibrillation and flutter (AFi/AFl). These arrhythmias confer an increased risk of postoperative stroke, thrombus formation and systemic emboli. This systematic review examines the burden of de novo AFi/AFl in adults following transcatheter closure and seeks to identify risk factors for AFi/AFl development.MethodsStudies were identified by a search of MEDLINE, EMBASE and Cochrane databases from inception until 29 April 2020. A meta-analysis of AFi/AFl incidence was performed using a random-effects model.ResultsA total of 31 studies met inclusion criteria, comprising 4788 adult patients without a history of AFi/AFl. Twenty-three studies were included in quantitative synthesis and demonstrated an overall incidence rate of 1.82 patients per 100 person-years of follow-up (I2=83%). In studies that enrolled only patients ≥60 years old, the incidence was 5.21 patients per 100 person-years (I2=0%). Studies with follow-up duration ≤2 years reported an incidence of 4.05 per 100 person-years (I2=55%) compared with a rate of 1.19 per 100 person-years (I2=85%) for studies with follow-up duration >2 years.ConclusionsThe incidence of new-onset AFi/AFl is relatively low following transcatheter closure of secundum ASDs. The rate of de novo AFi/AFl, however, was significantly higher in elderly patients. Shorter follow-up time was associated with a higher reported incidence of AFi/AFl.

EFFECTIVE CORRECTION OF THE COMMON ATRIOVENTRICULAR CANAL WITH TETRALOGY OF FALLOT AND HYPOPLASIA OF THE RIGHT VENTRICLE IN A CHILD

The paper presents a description of a case of successful one and a half ventricular correction of a complex congenital cardiac anomalies, including the common atrioventricular canal, tetralogy of Fallot, and hypoplasia of the right ventricle in a child (2 year and 4 months). Ararecongenitalanomalycharacterized by acombinationof intracardiac defects, required an innovative surgical approach, the exclusivity of this clinical case has determined. The surgical strategy of complete atrioventricular canal defect is determined by a number of factors. One of the most important is balance between right and left ventricular outputs. The balanced type with adequate development of the ventricles involves the biventricular repair performance. Unbalancedatrioventricular canal defects includea hypoplastic ventricle. Reconstructive surgeryfor onehypoplasticventricle is oriented towards the degree of hypoplasia. In particular, a mild right ventricular hypoplasia allows perfoming biventricular radical operation while a severe degree suggests univentricular repair. In case of borderline, moderate degree of hypoplastic right ventricle the one and half ventricle repair can be carried out. Another important point is the presence of concomitant pulmonic stenosis required the choice of optimal method and material for reconstruction which is not always obvious and often it is the subject of debates. This report presents a description of the diagnostic stages with an emphasis on determining the type of balance of the common atrioventricular canal, the degree of hypoplasia of the right ventricle, the approach to choosing the optimal method for correcting the defect in general and the material for reconstructing the outflow pathway from the right ventricle in particular, as well as the subsequent successful correction of congenital multicomponent cardiac abnormalities in a young patient.

Sinus of Valsalva Rupture or VSD Shunt: Mystery Solved by Cardiac CT

Unruptured aneurysm of sinus of Valsalva is an asymptomatic pathology and diagnosed incidentally. This extremely rare anomaly can be associated with other congenital cardiac anomalies which can make the diagnosis and prognosis even more complex. We are reporting a case of a 12-year-old boy with progressive dyspnea and episodes of syncope. Multimodality imaging confirmed the diagnosis and paved the way for appropriate surgical treatment options.

Age of puppies at referral to veterinary cardiology specialists for murmur investigation

Background Cardiac auscultation is an important screening test at the first health examination of puppies because most clinically relevant congenital cardiac anomalies cause a loud murmur from birth. This retrospective study aimed to investigate the age at which dogs with suspected congenital cardiac anomalies were referred to a veterinary cardiology specialist for murmur investigation. A secondary aim was to establish the time interval between the visit to the cardiologist and the first available murmur documentation. The digital archive of a veterinary teaching hospital was searched for dogs with congenital cardiac anomalies and puppies with innocent murmurs during a 5-year period. Dogs had to be referred because of a murmur, and they had to undergo physical examination and echocardiography by a veterinary cardiology specialist. The health certificate section of the pet passport, and the medical records from the referring veterinarian, were reviewed to identify the date when the murmur was first documented. Results Of the 271 included dogs, 94% had a congenital cardiac anomaly and 6% had an innocent murmur. The dogs’ median age was 190 days when they were examined by the cardiologist. Only 10% of the dogs were referred by the breeder’s veterinarian, while 90% of the dogs were referred by the new owner’s veterinarian. The median age of the first available murmur documentation by a first opinion veterinary practitioner was 95 days. Conclusions Only 10% of the puppies in the present study were referred to a veterinary cardiology specialist for murmur investigation before they were sold to a new owner. Referral prior to re-homing would have been feasible if the murmur had been detected and documented by the breeder’s veterinarian, if referral was offered by the breeder’s veterinarian and the referral was accepted by the breeder.

Intra-atrial Pulmonary Venous Conduit Leak in Criss-Cross Heart: Role of Three-Dimensional Modeling

Three-dimensional (3D) modeling has become an invaluable tool for operative planning in the continually evolving complex field of adult congenital heart surgery. We present a case of an Intra-atrial conduit leak after multiple repairs of common atrium and criss-cross morphology. 3D modeling was critical in preoperative evaluation and operative planning for complicated intracardiac anatomy after an uncommon initial approach to preserve a biventricular circulation. In the setting of complex or rare congenital cardiac anomalies, advanced imaging and 3D modeling are helpful with preoperative planning.

Congenital Heart Disease and Surgical Outcome in Down Syndrome

The prevalence of congenital heart disease has accounted for nearly one-third of all significant congenital anomalies worldwide. The first report about an association between cardiac anomalies and Down Syndrome was in (1876). Ten years after discovering of Down Syndrome and the credit of association between congenital cardiac anomalies and mongolism was suggested in (1894) by Garrod. There many studies performed to identify a correlation between genotype and phenotype in Down Syndrome, little is known about cardiovascular phenotype in Down Syndrome. Congenital heart disease is considered one of the highest causes of mortality and morbidity in Down Syndrome compared to patients with the same lesion of non-down. There is a big debate about surgical management and considered them as risk factors of surgery with precaution and recent technology, Down Syndrome considered as a normal patient in prognosis. This chapter aimed to shed the light on congenital heart disease in Down Syndrome and current knowledge in specific mutations associated with them and how the effect of innovative technology and management to treat them end at the same outcome and sometimes better based on recent research and Scoring System.

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia, who was newly diagnosed with 22q11.2 deletion syndrome during an episode of hypocalcaemia. The syndrome is caused by developmental abnormalities of the embryonic pharyngeal arch system. Treatment of hypocalcaemia with oral calcium and vitamin D is usually sufficient.

Gestational intermittent hyperoxia rescues murine genetic congenital heart disease in part

Cardiac development is a dynamic process, temporally and spatially. When disturbed, it leads to congenital cardiac anomalies that affect approximately 1% of live births. Genetic variants in several loci lead to anomalies, with the transcription factor NKX2-5 being one of the largest. However, there are also non-genetic factors that influence cardiac malformations. We examined the hypothesis that hyperoxia may be beneficial and can rescue genetic cardiac anomalies induced by an Nkx2-5 mutation. Intermittent mild hyperoxia (40% PO2) was applied for 10 h per day to normal wild-type female mice mated with heterozygous Nkx2-5 mutant males from gestational day 8.5 to birth. Hyperoxia therapy reduced excessive trabeculation in Nkx2-5 mutant mice compared to normoxic conditions (ratio of trabecular layer relative to compact layer area, normoxia 1.84 ± 0.07 vs. hyperoxia 1.51 ± 0.04) and frequency of muscular ventricular septal defects per heart (1.53 ± 0.32 vs. 0.68 ± 0.15); however, the incidence of membranous ventricular septal defects in Nkx2-5 mutant hearts was not changed. Nkx2-5 mutant embryonic hearts showed defective coronary vessel organization, which was improved by intermittent mild hyperoxia. The results of our study showed that mild gestational hyperoxia therapy rescued genetic cardiac malformation induced by Nkx2-5 mutation in part.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

BackgroundX-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported. The OTUD5 gene at Xp11.23 encodes ovarian tumor deubiquitinase 5 protein, which is a deubiquitinating enzyme member of the ovarian tumor family. LINKage-specific-deubiquitylation-deficiency-induced embryonic defects (LINKED) syndrome, arising from pathogenic OTUD5 variants, was recently reported as a new XLID with additional congenital anomalies.MethodsWe investigated three affected males (49- and 47-year-old brothers [Individuals 1 and 2] and a 2-year-old boy [Individual 3]) from two families who showed developmental delay. Their common clinical features included developmental delay, hypotonia, short stature, and distinctive facial features, such as telecanthus and a depressed nasal bridge. Individuals 1 and 2 showed epilepsy and brain magnetic resonance imaging showed a thin corpus callosum and mild ventriculomegaly. Individual 3 showed congenital malformations, including tetralogy of Fallot, hypospadias, and bilateral cryptorchidism. To identify the genetic cause of these features, we performed whole-exome sequencing.ResultsA hemizygous OTUD5 missense variant, c.878A>T, p.Asn293Ile [NM_017602.4], was identified in one family with Individuals 1 and 2, and another missense variant, c.1210 C>T, p.Arg404Trp, in the other family with Individual 3, respectively. The former variant has not been registered in public databases and was predicted to be pathogenic by multiple in silico prediction tools. The latter variant p.Arg404Trp was previously reported as a pathogenic OTUD5 variant, and Individual 3 showed a typical LINKED syndrome phenotype. However, Individuals 1 and 2, with the novel variant (p.Asn293Ile), showed no cardiac or genitourinary malformations.ConclusionsUnlike previous reports of LINKED syndrome, which described early lethality with congenital cardiac anomalies, our three cases are still alive. Notably, the adult brothers with the novel missense OTUD5 variant have lived into their forties. This may be indicative of a milder phenotype as a possible genotype-phenotype correlation. These findings imply a possible long-term prognosis for individuals with this new XLID syndrome, and a wider phenotypic variation than initially thought.