Ji-Yang Zuo^1,2, Huan-Xin Chen^1,2, Zhi-Gang Liu^1,2, Qin Yang^1,2, Guo-Wei He^1,2,*

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.025451

Abstract Background: Atrial septal defect (ASD) is one of the common congenital heart diseases. The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored. Methods: In 613 subjects including 320 ASD patients, we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis. Results: Eleven variants were identified in the MYH6 gene promoter, of which four variants were found only in ASD patients, and two variants (g.3434G>C and g.4524C>T) were identified for the first time.… More >

Elio Caruso^1,*, Silvia Farruggio¹, Alfredo Di Pino¹, Paolo Guccione¹, Mohammadrafie Khorgami²

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.023711

Abstract We present the case of an infant admitted to our department for a rapid broad complex tachycardia and cardiovascular collapse. The patient was submitted to genetic testing because of a conduction defect at baseline ECG and family history of gene mutation. A new SCN5A gene mutation variant was found leading to diagnosis of sodium-channel dysfunction arrhythmia. More >

Yifan Li¹, Zewen Chen², Jian Zhuang², Zhiwei Zhang^1,*

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.024907

Abstract A congenital coronary artery fistula (CCAF) combined with giant coronary aneurysm (CAA) is a rare congenital cardiac abnormality. We reported an 8-year-old patient who underwent transcatheter closure of both inlet and outlet of a proximal left coronary artery (LCA)-to-left ventricular (LV) fistula with CAA of 41 mm × 28 mm in diameter, during which acute occlusion of left anterior descending coronary artery (LAD) occurred immediately after device implantation at the inlet of fistula. We managed to prevent the patient from major adverse cardiac events by conservative therapy with dual antiplatelet agents instead of surgical removal of the device. The patient… More >

Benjamin Zielonka^1,2,*, David M. Harrild^1,2, Sunil J. Ghelani^1,2, Eleni G. Elia^1,2, Christopher W. Baird^3,4, Andrew J. Powell^1,2, Rahul H. Rathod^1,2

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.021509

Abstract Background: The right ventricle to pulmonary artery conduit (RVPAC) may impair right ventricular (RV) function in patients with functional single right ventricles. Modification of the RVPAC using a ring-reinforced end with dunked insertion into the RV through a limited ventriculotomy may reduce the impact on RV function. We compared RV segmental strain between patients with a traditional RVPAC and ring-reinforced RVPAC using feature tracking cardiovascular magnetic resonance (CMR) imaging. Methods: Patients with CMR examinations after Stage I operation with RVPAC between 2000 and 2018 were reviewed. Ventricular mass, volumes, late gadolinium enhancement (LGE), and peak radial and circumferential strain of… More >

Huan Zhou^1,#, Jin Kang^2,#, Jun Gao^2,*, Xiaoyuan Feng¹, Li Zhou², Xia Xiao², Zhengliang Meng², Chengwen Guo²

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.022648

Abstract Background: Real-time three-dimensional echocardiography (RT-3DE) could obtain ventricular volume and ejection fraction rapidly and non-invasively without relying on ventricular morphology. This study aims to use RT-3DE to evaluate the changes in biventricular volume and systolic function in children with ventricular septal defect (VSD) and moderate to severe pulmonary hypertension (PH) before surgery. Methods: In this study 18 children with VSD and moderate to severe PH (VSD + PH Group) and 18 healthy children of the same age (Control Group) were recruited. Biventricular volume and systolic function were evaluated by RT-3DE. The measurements included: left and right ventricular volume indexed to… More >

Daniel Quandt^1,4,5,#,*, Alessia Callegari^1,4,5,#, Oliver Niesse^1,4,5, Martin Christmann^1,4,5, Anke Meinhold^2,4,5, Hitendu Dave^3,4,5, Walter Knirsch^1,4,5, Oliver Kretschmar^1,4,5

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.022401

Abstract Background: This study set out to assess the indications, feasibility, safety, and outcome of early cardiac catheterizations (CC) within 30 days after congenital heart surgery (CHS) in children. Methods and Results: This is a retrospective, single-center case review study of all CC within 30 days after CHS between 1/2010-12/2020. A total of 317 (138 diagnostic, 179 interventional) CC were performed in 245 patients at a median of 4 days (IQR 13) after CHS. The median age was 3 months (IQR 6), and body weight was 5 kg (IQR 4). A total of 194 (61.2%) CC were performed in patients with… More >

Rui Jiang^1,3,*, Kaisheng Lai², Jianping Xu¹, Xiang Feng¹, Shaoye Wang¹, Xiaojian Wang³, Zhe Liu²

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.021626

Abstract Background: The etiology of pulmonary arterial hypertension associated with congenital heart disease (PAHCHD) is complicated and the phenotype is heterogeneous. Genetic defects of NOTCH3 were associated with cerebral disease and pulmonary hypertension. However, the relationship between NOTCH3 mutations and the clinical phenotype has not been reported in CHD-PAH. Methods: We eventually enrolled 142 PAH-CHD patients from Fuwai Hospital. Whole exome sequencing (WES) was performed to screen the rare deleterious variants of NOTCH3 gene. Results: This PAH-CHD cohort included 43 (30.3%) men and 99 (69.7%) women with the mean age 29.8 ± 10.9 years old. The pathogenic or likely pathogenic mutations… More >

Jun Sung Park¹, Go Hun Seo², Yunha Choi¹, Soojin Hwang¹, Minji Kang³, Hyo-Sang Do³, Young-Hwue Kim⁴, Jeong Jin Yu⁴, Ellen Ai-Rhan Kim⁵, Euiseok Jung⁵, Byong Sop Lee⁵, Jae Suk Baek⁴, Beom Hee Lee^1,6,*

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.021580

Abstract Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally, multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This study investigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHD and the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromic CHD aged <18 years underwent WES between May 2018 and December 2020 in a single tertiary center, and the association between genetic testing data and extracardiac phenotypes was analyzed. Results: Extracardiac phenotypes were measured as 3.66 ± 3.05 (standard deviation, interquartile range: 2–5)… More >

Alyssia Venna¹, Kathleen Reid², Sarah Davis², Jiaxiang Gai³, Yves d’Udekem¹, Sarah Clauss^2,*

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.021571

Abstract Background: Patients with single ventricle anatomy are at increased risk of growth failure and malnutrition. Amongst cardiac centers, there is little standardization of feeding practices in this complex population. We hypothesized that initiation of our center’s preoperative feeding protocol would result in decreased gastrostomy tube (G-tube) use, decreased length of stay and would not result in increased Necrotizing Enterocolitis (NEC) rates. Methods: A single institution review of 52 patients who had undergone stage I single ventricle palliative repair was performed. Patient diagnoses were hypoplastic left heart syndrome (39%), atrioventricular canal (15%), and other (46%). Postoperative parameters such as time to… More >

Qi Liu, Shoujun Li, Zhongdong Hua^*

Congenital Heart Disease, Vol., , DOI:10.32604/chd.2022.020496

Abstract Background: Double aortic arch (DAA) with distal left-sided aortic arch atresia (LAAA) can form complete vascular ring by ligamentum connection. We aimed to introduce an uncommon DAA-LAAA diagnosis and treatment by the minimally invasive surgical technique (MIST). Methods: We retrospectively reviewed 7 cases of DAA-LAAA that were treated from January 2017 to July 2021. All infant patients underwent surgical repair by minimally invasive surgical technique. Mean follow-up was 14.43 months (range, 5–21 months). Results: There were seven patients with DAA-LAAA, including six males and one female. Median age was 19.29 months (range, 9.0–29.0 months). Median weight was 11.30 kg (range,… More >