Background: Although most cases of atrial septal defect (ASD) are sporadic, familial cases have been reported, which may be caused by mutation of transcription factor GATA binding protein 4 (GATA4). Herein we combined whole-exome sequencing and bioinformatics strategies to identify a novel mutation inGATA4accounting for the etiology in a Chinese family with ASD.Methods: We identified kindred spanning 3 generations in which 3 of 12 (25.0%) individuals had ASD. Punctilious records for the subjects included complete physical examination, transthoracic echocardiography, electrocardiograph and surgical confirming. Whole-exome capture and high-throughput sequencing were performed on the proband III.1. Sanger sequencing was used to validate the candidate variants, and segregation analyses were performed in the family members.Results: Direct sequencing ofGATA4from the genomic DNA of family members identified a T-to-C transition at nucleotide 929 in exon 5 that predicted a methionine to threonine substitution at codon 310 (M310T) in the nuclear localization signal (NLS) region. Two affected members (II.2 and III.3) and the proband (III.1) who was recognized as a carrier exhibited this mutation, whereas the other unaffected family members or control individuals did not. More importantly, the mutationGATA4(c.T929C: p.M310T) has not been reported previously in either familial or sporadic cases of congenital heart defects (CHD).Conclusions: We identified for the first time a novel M310T mutation in theGATA4gene that is located in the NLS region and leads to family ASD with arrhythmias. However, the mechanism by which this pathogenic mutation contributes to the development of heart defect and tachyarrhythmias remains to be ascertained.

Introduction: Complex ectopic drainage of body veins is a rare congenital disease. Its preoperative diagnosis and surgical choice can be considerable challenges. Case Summary: A 5-year-old patient was diagnosed precisely by preoperative transthoracic echocardiography, computed tomography (CT), three-dimensional (3D) reconstruction, and three-dimensional (3D) printing of the heart and great blood vessels. The operation was performed successfully using flexible intraoperative intubation strategies. Conclusion: 3D printing technology can assist in the formulation of surgical protocols for complex body vein ectopic drainage. Flexible intubation strategies can increase the success of the operation.

Sinus of Valsalva aneurysm (SVA) is a rare cardiac anomaly that can undergo spontaneous rupture into other cardiac chambers or the pericardial space. A ruptured SVA has a very poor prognosis with high morbidity and mortality. These aneurysms often present as a rupture from the right coronary sinus into the right ventricle. Transcatheter closure has become an effective alternative to surgical treatment. However, it has been rarely reported in patients after ventricular defect repair in the past. We here describe a 3-year-and-3-month-old boy who was found to have a ruptured sinus of Valsalva. He underwent surgical closure of a ventricular septal defect at the age of 2 months, which occurred in the non-coronary sinus (NCS) and ruptured into the right atrium. We successfully occluded the ruptured sinus of Valsalva with a ventricular septal occluder.

Objective To evaluate safety and effectiveness of intraoperative device closure for secundum atrial septal defect (ASD) not referred to percutaneous closure. Design and Patients From April 2010 to December 2018, 231 secundum ASD children (≤14 years) directly recommended to surgical repair were enrolled in this study. These patients were divided into two groups according to the parents’ choice based on surgeons’ recommendation. Follow‐up evaluations were adopted at 2 weeks, 3 months, 6 months, and 12 months after the procedure and yearly thereafter. In Group A, 127 patients underwent an initial attempt at device closure. In Group B, 104 patients underwent a repair procedure under cardiopulmonary bypass. Results All patients survived. Group A had lower values of operation time, mechanical ventilation time, cardiac intensive care unit duration and amount of blood transfusion. Nevertheless, postoperative hospitalization time between two groups showed no statistical difference. In group A, 109 (85.83%) patients were successfully occluded, whereas 18 (14.17%) patients were converted to open‐heart surgery. No severe complications occurred in the follow‐up period. Conclusion Intraoperative device closure is safe, effective procedure for selected cases with secundum ASDs which were not referred to percutaneous closure because of more suitable occluder selection, no “unbutton effect” and stitching enhancement.

Background: Cardiac epicardium hemangiomas are exceedingly rare; however, they can cause significant hemodynamic impairment and large pericardial effusions. On rare occasion, cardiac tumors coexist with malformations of the heart. Case presentation: We present the case of a 10-month-old female infant with a rare cardiac surface hemangioma coexisting with malformations of the heart. It revealed an atrial septal defect (ASD) coexisting with an abnormal occupying lesion with high echogenicity. It was 35*12*9 mm in size and was found in the anterior atrioventricular junction to the posterior atrioventricular junction at the bottom of the ventricular septum by transthoracic echocardiography. We performed surgical treatment of the atrial septal defect and performed biopsy with the occupying lesion. The histopathological examination reported a benign tumor as hemangioma. As far as we know, this is the first case in which cardiac surface hemangioma was found to coexist with an atrial septal defect. Conclusions: Cardiac epicardium hemangiomas is a rare solid tumor of the heart. If the mass is impossible to resect and does not cause hemodynamic impairment, only mass biopsy is possible.