Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.

Background In nonsyndromic conotruncal cardiac defects, the use of next-generation sequencing for clinical diagnosis is increasingly adopted, but gene-disease associations in research are only partially translated to diagnostic panels, suggesting a need for evidence-based consensus. Methods and Results In an exome data set of 245 patients with conotruncal cardiac defects, we performed burden analysis on a high-confidence congenital heart disease gene list (n=132) with rare (<0.01%) and ultrarare (absent in the Genome Aggregation Database) protein-altering variants.

Three Decades of Follow-up After Surgical Closure of Subarterial Ventricular Septal Defect.

We determined the occurrence of aortic regurgitation (AR), AR progression and risk factors in patients followed up for up to three decades after closure of subarterial VSD. We reviewed the outcomes of 86 patients categorized into three groups: group I comprised 37 patients without AR and had VSD closure alone, group II comprised 40 patients with AR and had VSD closure without aortic valvoplasty, and group III comprised 9 patients with AR and required both VSD closure and aortic valvoplasty. Patients were followed up for 18.

Interplay between right atrial function and liver stiffness in adults with repaired right ventricular outflow obstructive lesions.

Aims: This study determined the associations between right atrial (RA) and right ventricular (RV) mechanics and liver stiffness in adults with repaired tetralogy of Fallot (TOF), pulmonary atresia with intact ventricular septum (PAVIS), and pulmonary stenosis (PS).

Methods And Results: Ninety subjects including 26 repaired TOF, 24 PAIVS, and 20 PS patients and 20 controls were studied. Hepatic shear wave velocity and tissue elasticity (E), measures of liver stiffness, were assessed by two-dimensional shear wave elastography, while RA and RV mechanics were assessed by speckle tracking echocardiography.

Monoallelic Mutations in Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.

Background: Human heterotaxy is a group of congenital disorders characterized by misplacement of one or more organs according to the left-right axis. The genetic causes of human heterotaxy are highly heterogeneous.

Methods: We performed exome sequencing in a cohort of 26 probands with heterotaxy followed by gene burden analysis for the enrichment of novel rare damaging mutations.

Aortic dissection in a Chinese patient 31 years after surgical repair of tetralogy of Fallot.

Aortic dilation has been increasingly recognized in congenital heart diseases, and aortic dissection is one of the important complications. We report a case of aortic dissection in a patient 31 years after repair of tetralogy of Fallot (TOF) and review reported cases. While aortic dissection is uncommon, aortic dilation is common among patients with repaired TOF and it appeared progressive in some patients.

Differential myocardial fibrosis of the systemic right ventricle and subpulmonary left ventricle after atrial switch operation for complete transposition of the great arteries.

Background: This study aimed to assess diffuse myocardial fibrosis of the systemic right ventricle and subpulmonary left ventricle in patients after Senning or Mustard operation for complete transposition of the great artery (TGA) using cardiac magnetic resonance (CMR) T1 mapping.

Methods: Thirty-one adult TGA patients after Senning (n = 24) or Mustard (n = 7) operation were studied at the age of 33.3 ± 4.

Tricuspid Regurgitation in Adults after Repair of Right Ventricular Outflow Obstructive Lesions.

We determined the prevalence and factors associated with tricuspid regurgitation (TR) in adults with repair of right ventricular (RV) outflow obstruction. A total of 256 patients (128 males) were studied at 25.7 ± 7.

Frontal QRS-T angle and ventricular mechanics in congenital heart disease.

Background: The QRS-T angle has been associated with adverse cardiovascular events and sudden cardiac deaths. We determined frontal QRS-T angle in patients with complete transposition of the great arteries (TGA) after atrial switch operation and repaired tetralogy of Fallot (TOF) and explored its relationships with ventricular mechanics.

Methods: Thirty TGA patients aged 32.

Porcine Versus Pericardial Pulmonary Valve Replacement in Adults With Prior Congenital Cardiac Surgery: Midterm Outcomes.

Background: Postcongenital heart surgery pulmonary regurgitation requires subsequent pulmonary valve replacement. We sought to compare the outcomes of pulmonary valve replacement after using bioprosthetic valves, porcine versus pericardial bioprosthesis.

Method: Retrospective single-center study of consecutive pulmonary valve replacement in patients with pulmonary regurgitation following initial congenital cardiac surgery.

Myocardial oedema in an 8-year-old Chinese boy with Idiopathic systemic capillary leak syndrome.

Background: Idiopathic systemic capillary leak syndrome (ISCLS) is rare, and there has been about 32 cases reported in children worldwide since this disorder was first described in 1960. Clinical guidelines on the management approach stemming from robust scientific evidence are lacking. This case report presents the first reported paediatric case of severe ISCLS with significant myocardial oedema and emphasizes this disease's impact on a child's cardiac function.

Circulating Transforming Growth Factor-β and Aortic Dilation in Patients with Repaired Congenital Heart Disease.

This study determined the circulating levels of TGF-β1 and its association with aortic dilation and elastic properties in congenital heart patients. Forty-six patients after tetralogy of Fallot (TOF) repair, 21 patients post arterial switch and 15 patients post atrial switch for transposition of the great arteries (TGA), 27 patients post Fontan procedure, and 36 controls were studied. Aortic dimensions and elastic properties and ventricular function were assessed by echocardiography.

Fifty-Five Years Follow-Up of 111 Adult Survivors After Biventricular Repair of PAIVS and PS.

There is paucity of long-term data on adult survivors after biventricular repair of pulmonary atresia with intact ventricular septum (PAIVS) and pulmonary stenosis (PS). This study aimed to determine the cardiac and non-cardiac outcomes of adult survivors after biventricular repair of PAIVS and PS. The cardiac, neurodevelopmental and liver problems of 111 adults, 40 with PAIVS and 71 with PS, were reviewed.

Achieving biventricular circulation in patients with moderate hypoplastic right ventricle in pulmonary atresia intact ventricular septum after transcatheter pulmonary valve perforation.

Objective: Transcatheter valve perforation for pulmonary atresia intact ventricular septum is the standard of care for patients with mild right ventricular hypoplasia. However, its role in moderate right ventricular hypoplasia has been less well defined. We sought to report the long-term outcome of patients with moderate hypoplastic right ventricle who had undergone the procedure.

Circulating MicroRNA in patients with repaired tetralogy of Fallot.

Background: Emerging data suggest that heart-related microRNAs (miRs) may serve as circulating biomarkers of myocardial injury. We aimed to determine the circulating profile of miRs in patients with volume-overloaded right ventricles after repair of tetralogy (TOF).

Materials And Methods: A total of 104 TOF patients and 70 controls were recruited.

large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.

Conotruncal heart anomalies (CTDs) are particularly prevalent congenital heart diseases (CHD) in Hong Kong. We surveyed large (>500 kb), rare (<1% frequency in controls) copy-number variations (CNVs) in Chinese patients with CTDs to identify potentially disease-causing variations. Adults who tested negative for 22q11.

Apoptosis of cardiomyocytes in children with right ventricular pressure overload with and without hypoxemia.

Background: Cardiomyocyte apoptosis has been implicated in ventricular remodeling and initiation of cardiac failure. We sought to determine the severity of right ventricular (RV) cardiomyocyte apoptosis in cyanotic and acyanotic children with RV pressure overload.

Methods: Fourteen patients, seven with tetralogy of Fallot (group I) and seven with pulmonary stenosis and ventricular septal defect (group II), undergoing open-heart surgery were studied.

Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.

22q11.2 deletion syndrome (22q11.2DS) is a multi-systemic disorder with high phenotypic variability.

Circulating microRNA expression profile and systemic right ventricular function in adults after atrial switch operation for complete transposition of the great arteries.

Background: Data on the use of circulating microRNAs (miRNAs) as biomarkers of cardiovascular diseases are emerging. Little, however, is known on the expression profile of circulating of microRNAs in congenital heart malformations with a systemic right ventricle that is prone to functional impairment. We aimed to test the hypothesis that circulating miRNA profile is altered in patients late after atrial switch operation for complete transposition of the great arteries (TGA) and further explored possible relationships between alteration of circulating miRNAs and systemic ventricular contractility.

Circulating annexin A5 levels after atrial switch for transposition of the great arteries: relationship with ventricular deformation and geometry.

Background: Inflammatory cytokines, cardiomyocyte apoptosis, and altered collagen turnover may contribute to unfavourable ventricular remodeling. This unfavourable ventricular remodelling is well documented in patients after atrial switch operation for complete transposition of the great arteries. We therefore tested if levels of circulating markers of inflammation, apoptosis, collagen synthesis, and extracellular matrix degradation are altered in patients after atrial switch operation for transposition of the great arteries.

Circulating levels of biomarkers of collagen synthesis and ventricular function and dyssynchrony in adolescents and young adults after repair of tetralogy of Fallot.

Background: Circulating carboxy-terminal propeptide of type I procollagen (PICP) and amino-terminal propeptide of type III procollagen (PIIINP) are biomarkers of collagen synthesis. We tested the hypothesis that circulating PICP and PIIINP are altered and may correlate with ventricular volume load and function in patients with repaired tetralogy of Fallot (TOF).

Methods And Results: Serum PICP and plasma PIIINP levels were determined in 39 patients with repaired TOF aged 17.

Diastolic ventricular interaction in patients after atrial switch for transposition of the great arteries: a speckle tracking echocardiographic study.

Background: We tested the hypothesis that diastolic ventricular interaction occurs after atrial switch operation for transposition of the great arteries (TGA) and that subpulmonary LV diastolic function is influenced by septal geometry.

Methods: Twenty-nine patients (male 19) after atrial switch operation for TGA aged 20.8 ± 4.

Oxidative stress in children late after Kawasaki disease: relationship with carotid atherosclerosis and stiffness.

Background: Persistent arterial dysfunction in patients with a history of Kawasaki disease (KD) and an integral role of oxidative stress in the development of cardiovascular disease are increasingly recognized. We sought to test the hypothesis that oxidative stress is increased in KD patients and related to carotid atherosclerotic changes and stiffness.

Methods: We compared the serum levels of oxidative stress biomarkers, carotid intima-media thickness (IMT), and carotid stiffness index among KD patients with coronary aneurysms (n = 32), those without coronary complications (n = 19), and controls (n = 32).

Mechanical right ventricular dyssynchrony in patients after atrial switch operation for transposition of the great arteries.

Recent data suggest potential benefits of cardiac resynchronization therapy in the management of right ventricular (RV) dysfunction in congenital heart disease. The aim of this study was to determine the nature, prevalence, and functional implications of mechanical RV dyssynchrony in patients after Senning or Mustard procedures for transposition of the great arteries. Twenty-eight patients (mean age 21.

Brain natriuretic peptide as a biomarker of systemic right ventricular function in patients with transposition of great arteries after atrial switch operation.

Background: Assessment of systemic right ventricular (RV) function is inherently difficult. In adults, plasma brain natriuretic peptide (BNP) level has been shown to reflect systemic ventricular dysfunction. We sought to test the hypothesis that plasma BNP is a biomarker of systemic RV function in patients after atrial switch operation.