Abstract:
:Single-nucleotide polymorphisms in miRNA-machinery genes may alter the biogenesis of miRNAs affecting disease susceptibility. In this case-control study, we aimed to evaluate the impact of three single-nucleotide polymorphisms (DICER rs1057035, DROSHA rs10719, and XPO5 rs11077) and their combined effect in a genetic risk score model on congenital heart disease (CHD) risk. A total of 639 participants was recruited, including 125 patients with CHD (65 males; age 9.2 ± 10 years) and 514 healthy controls (289 males; age 15.8 ± 18 years). Genotyping of polymorphisms in miRNA-machinery genes was performed using a TaqMan®SNP genotyping assay. A genetic risk score was calculated by summing the number of risk alleles of selected single-nucleotide polymorphisms. There was a significantly increased risk of CHD in patients with XPO5 rs11077 CC genotype as compared to AC heterozygote and AA homozygote patients (ORadjusted = 1.7; 95% CI: 1.1-2.8; p = 0.018). A clear tendency to significance was also found for DROSHA rs10719 AA genotype and CHD risk for both codominant and recessive models (ORadjusted = 1.8; 95% CI: 0.91-3.8; p = 0.09 and ORadjusted = 1.9; 95% CI: 0.92-4; p = 0.08, respectively). The resulting genetic risk score predicted a 1.73 risk for CHD per risk allele (95% CI: 1.2-2.5; p = 0.002). Subjects in the top tertile of genetic risk score were estimated to have more than three-fold increased risk of CHD compared with those in the bottom tertile (ORadjusted = 3.52; 95% CI: 1.4-9; p = 0.009). Our findings show that the genetic variants in miRNA-machinery genes might participate in the development of CHD.
journal_name
Cardiol Youngjournal_title
Cardiology in the youngauthors
Borghini A,Vecoli C,Mercuri A,Turchi S,Andreassi MGdoi
10.1017/S1047951120004874subject
Has Abstractpub_date
2021-01-11 00:00:00pages
1-4eissn
1047-9511issn
1467-1107pii
S1047951120004874pub_type
杂志文章abstract::We describe the case of a 17-year-old male soccer player with T-wave inversion in precordial leads in resting electrocardiography, which also disclosed sinus bradycardia, early repolarization, and increased QRS voltage. These findings strongly suggested cardiomyopathy. The patient's T-wave inversion disappeared during...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001287
更新日期:2017-11-01 00:00:00
abstract::Introduction Neurodevelopmental abnormalities are common in children with CHD and are the highest-priority concerns for parents and professionals following cardiac surgery in childhood. There is no additional routine monitoring of development for children with CHD in the United Kingdom; hence, neurodevelopmental conce...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117002918
更新日期:2018-04-01 00:00:00
abstract::Aneurysm of the sinus of Valsalva is a rare congenital cardiac anomaly. It occurs as an outpouching that progresses like a windsock, and it may rupture producing aortic regurgitation, cardiac tamponade, congestive heart failure, conduction abnormalities, and stroke. We describe a case of rupture of the sinus of Valsal...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951116001621
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:To investigate the epidemiological characteristics of Kawasaki disease in Jilin province of China and explore its clinical features. METHODS:The medical records of children with Kawasaki disease hospitalised in the First Affiliated Hospital of Jilin University and Yanbian University between January, 2000 and...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110000375
更新日期:2010-08-01 00:00:00
abstract::Pneumopericardium, defined as air in the pericardial cavity, is a rare condition with potentially severe complications and mortality. In the neonatal period, pneumopericardium is associated with prematurity, very low birth weight, and assisted ventilation. We report the occurrence of spontaneous pneumopericardium in a...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117002657
更新日期:2018-03-01 00:00:00
abstract::Communications between the pulmonary artery and left atrium cause cyanosis. The images document serial haemodynamic changes in such a fistula from fetal life to the postnatal period with a successful transcatheter intervention. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118000616
更新日期:2018-10-01 00:00:00
abstract::Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence a...
journal_title:Cardiology in the young
pub_type: 杂志文章,评审
doi:10.1017/S1047951117000579
更新日期:2017-09-01 00:00:00
abstract::We report a case in which a meandering right pulmonary vein connecting to the left atrium is associated with hypoplasia of the right lung, horseshoe lung, abnormal pulmonary lobation, and abnormal branching of the pulmonary arteries. We discuss its relationship to the so-called scimitar variant, and to the scimitar sy...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951106000461
更新日期:2006-06-01 00:00:00
abstract::Isolated aortic regurgitation and myocardial infarction are a rare congenital defect among neonatal patients. We present a case of a neonate with an unusual aortic valve morphology causing both regurgitation and obstruction of the left coronary artery ostium. Despite both non-invasive and invasive imaging modalities, ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120001377
更新日期:2020-07-01 00:00:00
abstract:OBJECTIVE:To evaluate delivery management and outcomes in fetuses prenatally diagnosed with CHD. STUDY DESIGN:A retrospective cohort study was conducted on 6194 fetuses (born between 2013 and 2016), comparing prenatally diagnosed with CHD (170) to those with non-cardiac (234) and no anomalies (5790). Primary outcomes ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120000785
更新日期:2020-05-01 00:00:00
abstract::We found spontaneous echoes in two teenagers with nephrotic syndrome and profound hypoalbuminemia, both having normal cardiac structure, function and output. The phenomenon disappeared after the level of albumin normalized. In one patient, all spontaneous echoes disappeared following convalescence, the level of albumi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951104005153
更新日期:2004-10-01 00:00:00
abstract:BACKGROUND:Early weight trends after cardiac surgery in infants from low- and middle-income countries where the majority are undernourished have not been defined. We studied the early post-operative weight trends to identify specific factors associated with early weight loss and poor weight gain after discharge followi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951119002944
更新日期:2020-01-01 00:00:00
abstract::Information about acute coronary syndrome caused by Kawasaki disease-related coronary artery lesions in adults is sketchy. We reviewed the clinical features of 50 adult patients who had an acute coronary syndrome caused by coronary artery lesions due to Kawasaki disease or probable Kawasaki disease from 1980 to 2008. ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951110001502
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Providing appropriate care for adults with congenital heart disease requires the evaluation of their current situation. There is limited research in Iran about these patients, particularly in relation to gender differences in the demographic/socio-economic and lifestyle factors, as well as disease parameters...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112000625
更新日期:2013-04-01 00:00:00
abstract::An otherwise healthy 17-year-old adolescent boy presented with upper respiratory tract symptoms and was diagnosed with coronavirus disease 2019 infection. A haemorrhagic pericardial effusion was found in the transthoracic echocardiography. He was treated with pericardiocentesis, ibuprofen, and hydroxychloroquine. A la...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120004850
更新日期:2021-01-07 00:00:00
abstract::Femoral vein access is the first choice for percutaneous atrial septal defect closure, and when it cannot be used due to anatomic reasons, the alternative sites should be considered, frequently increasing the complexity of the procedure. Here we report the case of a 3-year-old boy, with situs inversus and dextrocardia...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951119002099
更新日期:2019-10-01 00:00:00
abstract::Introduction Carbon monoxide poisoning may cause myocardial toxicity and cardiac autonomic dysfunction, which may contribute to the development of life-threatening arrhythmias. We investigated the potential association between acute carbon monoxide exposure and cardiac autonomic function measured by heart rate variabi...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000944
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVES:To describe the echocardiographic features, underlying causes, and outcome of fetuses with dilated cardiomyopathy. DESIGN:A retrospective observational study between 1983 and 2003 at a tertiary centre for fetal cardiology. PATIENTS:Affected fetuses were identified using a computerised database. We included...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951105000855
更新日期:2005-08-01 00:00:00
abstract::The arterial switch operation has become the preferred procedure for surgical management of transposition, defined on the basis of concordant atrioventricular and discordant ventriculo-arterial connections. We conducted a retrospective evaluation of our experience in 61 infants with this segmental combination, seen fr...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951107001746
更新日期:2008-02-01 00:00:00
abstract::Endocarditis of congenital coronary fistulas in the cardiac chambers is rare, especially in the paediatric age group. We describe the case of a 9-year-old boy with a fistula from the dilated right coronary artery to the junction of the superior caval vein to the right atrium, complicated by endocarditis. Treatment con...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117001846
更新日期:2018-02-01 00:00:00
abstract::In Respiratory Syncytial Virus infection, the early identification of infants at risk for severe disease in order to potentially decrease morbidity could be considered a major goal. Current guidelines recommend only clinical observation for this purpose in infants without known comorbidities. However, recent evidence ...
journal_title:Cardiology in the young
pub_type: 信件
doi:10.1017/S1047951119002348
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:To categorise records according to primary cardiac diagnosis in the United Kingdom Central Cardiac Audit Database in order to add this information to a risk adjustment model for paediatric cardiac surgery. DESIGN:Codes from the International Paediatric Congenital Cardiac Code were mapped to recognisable prim...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951112001369
更新日期:2013-08-01 00:00:00
abstract::Although cardiac tumours are rare, such tumours are increasingly being diagnosed with increasing frequency and great accuracy by antenatal ultrasound. Cardiac haemangiomas account for less than one-twentieth of all primary cardiac tumours, with most being diagnosed in the neonatal period. We report 3 instances of succ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951109004168
更新日期:2009-08-01 00:00:00
abstract::Catecholaminergic polymorphic ventricular tachycardia is a rare life-threatening arrhythmogenic disorder. An association with paroxysmal atrial fibrillation and other atrial arrhythmias has been described, but in all published cases the initial manifestation of the disease was ventricular arrhythmia. This is the first...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951113001091
更新日期:2014-08-01 00:00:00
abstract::The mitral-aortic intervalvular fibrosa is an area of fibrous continuity between the mitral and aortic valves. We present the first case of a congenital pseudoaneurysm in this region, detected prenatally as an isolated cardiac defect, which was followed-up conservatively postnatally. The diagnosis was confirmed by ech...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951117000890
更新日期:2017-05-29 00:00:00
abstract::A 5-week-old child presented with a cardiac arrest secondary to myocardial ischaemia. Echocardiography demonstrated a single coronary artery arising from the right sinus of Valsalva. The coronary artery branched into left and right arteries, with the left artery then coursing anomalously in the tissue plane between th...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951104006092
更新日期:2004-12-01 00:00:00
abstract::Anthracycline-related cardiomyopathy is of concern in children treated for acute myeloid leukemia (AML). Risk is dose-dependent, increasing with higher doses. We aim to highlight the risk of early-onset cardiotoxicity with low-cumulative anthracycline dose in a young Omani boy with AML. We conclude in the presence of ...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951120003960
更新日期:2020-11-24 00:00:00
abstract:BACKGROUND:Absent arterial valve leaflets are rare anomalies. On the basis of our understanding of the normal development of the arterial valves, we draw inferences that might offer clues to their morphogenesis. METHODS:We describe the findings from four human fetal autopsies with so-called "absent" arterial valvar le...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951116000524
更新日期:2017-03-01 00:00:00
abstract:INTRODUCTION:The diagnosis of trisomy 21 in children has been associated with failed extubation after CHD surgery. Dexmedetomidine may be a useful agent to improve postoperative outcomes in these patients, such as ventilator time, ICU length of stay, or hospital length of stay. MATERIALS AND METHODS:The Pediatric Heal...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951114001462
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:Aberrant right subclavian artery is the most common congenital aortic arch anomaly. There are a few reports concerning the clinical manifestations and follow-up of this CHD detected by echocardiographic screening. METHODS:A total of 1737 full-term neonates, with a male-to-female ratio of 900:837, received e...
journal_title:Cardiology in the young
pub_type: 杂志文章
doi:10.1017/S1047951118000872
更新日期:2018-08-01 00:00:00