A 10-year-old girl presented with obvious cyanosis, and the saturation of arterial blood oxygen (SpO2) was decreased to 60.5% in the outpatient examination. Computed tomography angiography (CTA) and echocardiography suggested congenitally corrected transposition of the great arteries (ccTGAs), membranous ventricular septal aneurysm (MVSA), atrial septal defect (ASD), severe pulmonary stenosis (PS), and severe tricuspid regurgitation (TR). Due to the complex pathological anatomical structures, the three-dimensional printed model was used for preoperative assessment. After a comprehensive evaluation was completed, the operation was performed by physiological correction under cardiopulmonary bypass, including the resection of MVSA, repair using the bovine pericardial patch for ASD, and linear valvuloplasty of the tricuspid valve. Due to the special anatomical structures of ccTGA, PS was treated by extracardiac pipe technique. After the operation, the patient recovered well, cyanosis disappeared, SpO2 was up to 96%, and the extracardiac pipe was well-functioning without regurgitation or obstruction.

The existence and direction of an atrial shunt is normally diagnosed using echocardiography. A right-to-left atrial shunt, uncovered on routine computed tomography angiography, is presented. Transthoracic echocardiography verified the atrial shunt. TTE with intravenous agitated saline revealed the appearance of microbubbles in the left side of the heart. Atrial septal defects are a common cause of congenital heart diseases in adulthood. It may remain silent for decades because of the asymptomatic nature of the disease. Right-to-left atrial shunt is uncommon in patients with ASD.

Right-to-left shunt in atrial septal defect without pulmonary hypertension is a rare condition and can present with complications such as cyanosis. This is a rare case of cyanosis caused by right-to-left shunt atrial septal defect related to prominent crista terminalis.

ReAces is a novel puncturable transcatheter atrial septal defect occluder. The device success rate was 100% (n = 14 of 14) in the animal experiment. Four swine successfully received puncture of the device 60 days after implantation of the device. The acute procedure success rate in the 10 patients was 100%. Transthoracic echocardiography examination showed that the devices were well positioned with no residual shunt, and the area of central portion of occluder was substantially thin. It is safe and effective to use ReAces for closure of secundum atrial septal defect, and puncture the atrial septum at the portion of the device is feasible.

A 9-month-old girl born with an interrupted aortic arch type B, an arteria lusoria (aberrant right subclavian artery) and a multilevel left ventricular outflow tract obstruction underwent a Yasui completion after an initial interim palliation. After the Damus-Kaye-Stansel procedure was carried out and the Sano shunt had been established as a source of pulmonary flow, the reported procedure comprised closure of the ventricular septal defect and the intraventricular baffling of left ventricular outflow through a malaligned ventricular septal defect, incision and partial resection of a conal septum and establishment of a right ventricle-to-pulmonary artery connection using an autologous left atrial appendage as a free graft. This technique consisted of dissecting and harvesting the left atrial appendage, which was then used as autologous material for an interposition plasty connecting the central pulmonary artery bifurcation segment with the upper rim of the infundibulotomy. Native, autologous tissue thus comprised the backwall of the newly created right ventricle-to-pulmonary artery continuity. Porcine pericardial patch plasty was then used to complete the remaining circumference of the right ventricle-to-pulmonary artery continuity.

Background This study aimed to evaluate the long-term mortality and cause-specific mortality of patients with atrial septal defect (ASD) in a nationwide cohort. Methods and Results All patients diagnosed with simple ASD in the hospital discharge registry from 1969 to 2019 were included in the study. Complex congenital defects were excluded. Each subject was matched with 5 controls according to sex, age, and municipality at the index time. Adjusted mortality risk ratios (MRRs) were calculated using Poisson regression models. The median follow-up time was 11.1 years. Patients with ASD had higher overall mortality during follow-up, with an adjusted MRR of 1.72 (95% CI, 1.61-1.83). Patients with closed ASDs also had higher total mortality (MRR, 1.29 [95% CI, 1.10-1.51]). However, no difference in mortality was detected if the defect was closed before the age of 30 (MRR, 1.58 [95% CI, 0.90-2.77]), and transcatheter closed defects had lower mortality than the control cohort (MRR, 0.65 [95% CI, 0.42-0.99]). Patients with ASD had significantly more deaths due to congenital malformations (MRR, 54.61 [95% CI, 34.03-87.64]), other diseases of the circulatory system (MRR, 2.90 [95% CI, 2.42-3.49]), stroke (MRR, 1.89 [95% CI, 1.52-2.33]), diseases of the endocrine (MRR, 1.88 [95% CI, 1.10-3.22]) and respiratory system (MRR, 1.71 [95% CI, 1.19-2.45]), ischemic heart disease (MRR, 1.62 [95% CI, 1.41-1.86]), and accidents (MRR, 1.41 [95% CI, 1.05-1.89]). Conclusions Patients with ASD had higher overall mortality compared with a matched general population cohort. Increased cause-specific mortality was seen in congenital malformations, stroke, and heart diseases.

A patent foramen ovale (PFO) persists in about one-quarter of people and is the source of up to 25% of all ischemic strokes, especially strokes in young adults. PFO can be easily diagnosed by transthoracic contrast and/or transesophageal echocardiography. Interventional closure of the PFO via the femoral vein is a commonly used cardiological procedure since several trials have demonstrated the superiority of PFO closure over standard medical therapy in patients with PFO and who have experienced post ischemic, cardioembolic, or cryptogenic stroke. The current paper and video show the procedure of PFO closure in a step-by-step manner.

Biodegradable materials are a next-generation invention for the treatment of congenital heart diseases. However, the corresponding technology used to develop ideal biomaterials still presents challenges. We previously reported the first biodegradable atrial septal defect (ASD) occluder made of poly-lactic acid (PLLA). Unfortunately, the PLLA occluder had a limited endothelialization effect. In this study, the surface of the occluder membrane was coated with sericin/CD34 antibodies to promote the growth of endothelial cells and the regeneration of defective tissue and enhance the repair of the atrial septal defect. The physicochemical properties of the coat on the surface of the fiber membrane were characterized. The sericin coat successfully covered the fiber surface of the membrane, and the thickness of the membrane increased with the sericin concentration. The swelling rate reached 230%. The microscopic observation of fluorescently labeled CD34 antibodies showed that the antibodies successfully attached to the fiber membrane; the fluorescence intensity of PLLA-SH5 was particularly high. The in vitro experiment showed that the PLLA-SH-CD34 fiber membrane was biocompatible and promoted the adhesion and proliferation of endothelial cells. According to our findings, the PLLA-SH-CD34 membrane provides a theoretical and technical basis for the research and development of novel biodegradable occluders.

A woman in her 40s was admitted following syncope. The 12-lead ECG showed atrial fibrillation with slow ventricular response and suspected complete atrioventricular (AV) block. Cardiac monitoring demonstrated non-sustained monomorphic ventricular tachycardia (VT). Her medical history included surgical repair of an atrial septal defect (ASD) aged 4 years. The patient's mother died suddenly in her early 50s and also had an ASD. Given the patient's syncope, background of familial sudden cardiac death (SCD), suspicion of complete AV block and non-sustained VT, she received an implantable cardiac defibrillator (ICD). She underwent genetic testing, revealing a heterozygous NKX2-5 genetic mutation. The signature phenotype in NKX2-5 mutations is ASD with AV conduction disturbance and an increased risk of SCD secondary to ventricular arrhythmias or severe bradycardia. SCD has been described in NKX2-5 mutation carriers despite functioning permanent pacemakers (PPMs). Therefore, we propose implantation of a preventive ICD, as opposed to a PPM.

Accurate measurement of right ventricular (RV) size using transthoracic echocardiography (TTE) is important for evaluating the severity of congenital heart diseases. The RV end-diastolic area index (RVEDAi) determined using TTE is used to assess RV dilatation; however, the tracing line of the RVEDAi has not been clearly defined by the guidelines. This study aimed to determine the exact tracing method for RVEDAi using TTE. We retrospectively studied 107 patients with atrial septal defects who underwent cardiac magnetic resonance imaging (CMR) and TTE. We measured the RVEDAi according to isoechoic and high-echoic lines, and compared it with the RVEDAi measured using CMR. The isoechoic line was defined as the isoechoic endocardial border of the RV free wall, whereas the high-echoic line was defined as the high-echoic endocardial border of the RV free wall more outside than the isoechoic line. RVEDAi measured using high-echoic line (high-RVEDAi) was more accurately related to RVEDAi measured using CMR than that measured using isoechoic line (iso-RVEDAi). The difference in the high-RVEDAi was 0.3 cm2/m2, and the limit of agreement (LOA) was - 3.7 to 4.3 cm2/m2. With regard to inter-observer variability, high-RVEDAi was superior to iso-RVEDAi. High-RVEDAi had greater agreement with CMR-RVEDAi than with iso-RVEDAi. High-RVEDAi can become the standard measurement of RV size using two-dimensional TTE.

A pulmonary arteriovenous fistula (PAVM) is an abnormal blood vessel that creates a direct connection between a pulmonary artery and its tributary vein bypassing capillary filter, establishing as a consequence of a low-resistance right-to-left shunting (RLS). The vast majority of PAVMs are congenital appearing more often in females than in males. A great number of patients with PAVMs is suffering concurrently from hereditary hemorrhagic telangiectasia (HHT) whose incidence is around 1 in 5,000. Very few cases of acquired PAVMs have been described in the literature. Paradoxical embolism through PAVMs can cause systemic desaturation, cyanosis, and serious cerebrovascular ischemic events (transient ischemic attacks, strokes, and intracranial abscess), even when the abnormal blood vessel is small (diameter <3 mm). Notably, it has been reported a high prevalence of aura migraine (MHA) symptoms in patients with PAVMs and concomitant HHT. We described in this study the case of a young aura migraineur female patient without HHT in whom isolated PAVM below the detection limit of pulmonary angiography and chest computed tomography angiography (CTA) has been documented by contrast Transthoracic and Transesophageal Echocardiography (cTTE/TEE) showing a delayed (>17 s) RLS coming from left pulmonary veins to left atrium while a patent foramen ovale (PFO), small atrial septal defects or septum primum fenestration could not be detected despite several attempts. Contrast Transcranial Doppler (cTCD) confirmed a delayed (>16 s) RLS with two short "shower" patterns corroborating the diagnosis of an extra-cardiac RLS. During the right heart catheterization and pulmonary angiography, it was impossible to cross the interatrial septum with a multipurpose catheter. The patient was finally discharged with off-label thienopyridine agents (clopidogrel 75 mg die) in terms of primary prophylaxis for paradoxical right-to-left embolization of thrombotic material ultimately. Aura migraine symptoms were nearly abolished by P2Y12 platelet inhibition, suggesting a platelet-based mechanism. During 2 years of clinical follow-up on thienopyridine therapy, the resolution of aura migraine episodes was definitively accomplished with significant improvement in her quality of life.

KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A (KAT6A) gene. There are some differences in phenotype between KAT6A gene variants. This current case report describes a 1-month-old male infant that had a nonsense mutation in the KAT6A gene. Neither of his parents had the mutation. The proband had feeding difficulties and a physical examination revealed the following: moderate dysphagia, hypoplastic laryngeal cartilage, poor audio-visual response, poor head-up ability, no active grasping awareness, microcephaly, high arched palate and he was significantly behind other children of the same age. Echocardiography showed that the foramen ovale was not closed. He was diagnosed with atrial septal defect (ASD) when 2 years old. The patient received ASD repair at 32 months of age. Head colour Doppler ultrasonography and brain magnetic resonance imaging showed cysts in the right ventricle and choroid plexus, which returned to normal at 2 years of age. This current case demonstrates that immediate surgery should be considered in newborns with KAT6A syndrome presenting with a heart malformation. A new KAT6A syndrome phenotype is described in this current case report, which requires early diagnosis and treatment.

The primum atrial septal defect suture line adjacent to the crux is performed carefully with various techniques to avoid atrioventricular block in repair of complete atrioventricular septal defect. We describe our technical modification to simplify the shallow suture line only into the endocardium above the atrioventricular node without conduction disturbance.