Individual and joint effects of genetic polymorphisms in microRNA-machinery genes on congenital heart disease susceptibility.

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 Young

journal_title

Cardiology in the young

authors

Borghini A,Vecoli C,Mercuri A,Turchi S,Andreassi MG

doi

10.1017/S1047951120004874

subject

Has Abstract

pub_date

2021-01-11 00:00:00

pages

1-4

eissn

1047-9511

issn

1467-1107

pii

S1047951120004874

pub_type

杂志文章
  • Sudden improvement in ventricular repolarization abnormality after a short detraining period in an athlete.

    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

    authors: Motoki N,Akazawa Y,Hachiya A,Inaba Y

    更新日期:2017-11-01 00:00:00

  • Development and preliminary testing of the Brief Developmental Assessment: an early recognition tool for children with heart disease.

    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

    authors: Wray J,Brown KL,Ridout D,Lakhanpaul M,Smith L,Scarisbrick A,O'Curry S,Hoskote A

    更新日期:2018-04-01 00:00:00

  • Dissecting aneurysm of the interventricular septum due to rupture of the sinus of Valsalva.

    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

    authors: Atiq M,Ali F,Hasan SB

    更新日期:2017-04-01 00:00:00

  • Epidemiological investigation of Kawasaki disease in Jilin province of China from 2000 to 2008.

    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

    authors: Piao JH,Jin LH,Lv J,Zhou Y,Jin CJ,Jin ZY

    更新日期:2010-08-01 00:00:00

  • A full-term healthy neonate with respiratory distress.

    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

    authors: Nederlof I,Roest AAW,Starreveld JS

    更新日期:2018-03-01 00:00:00

  • Pulmonary artery to left atrial fistula: haemodynamic changes traced from fetus to infancy until its interventional closure.

    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

    authors: Sivakumar K,Sean DR

    更新日期:2018-10-01 00:00:00

  • Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.

    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

    authors: Kör Y,Keskin M,Başpınar O

    更新日期:2017-09-01 00:00:00

  • The relationship between scimitar syndrome, so-called scimitar variant, meandering right pulmonary vein, horseshoe lung and pulmonary arterial sling.

    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

    authors: Yoo SJ,Al-Otay A,Babyn P

    更新日期:2006-06-01 00:00:00

  • Myocardial ischaemia and valve insufficiency caused by a dysplastic aortic valve cusp: a previously unreported unique morphologic anomaly.

    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

    authors: Samuel S,Dhanantwari P,Meyer DB

    更新日期:2020-07-01 00:00:00

  • Fetal CHD and perinatal outcomes.

    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

    authors: Ge CJ,Mahle AC,Burd I,Jelin EB,Sekar P,Jelin AC

    更新日期:2020-05-01 00:00:00

  • Spontaneous echoes due to hypoalbuminemia.

    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

    authors: Hadash A,Braver Y,Lorber A

    更新日期:2004-10-01 00:00:00

  • Early weight trends after congenital heart surgery and their determinants.

    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

    authors: Banerji N,Sudhakar A,Balachandran R,Sunil GS,Kotayil BP,Krishna Kumar R

    更新日期:2020-01-01 00:00:00

  • Acute coronary syndrome in adult patients with coronary artery lesions caused by Kawasaki disease: review of case reports.

    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

    authors: Tsuda E,Abe T,Tamaki W

    更新日期:2011-02-01 00:00:00

  • Gender differences in health conditions and socio-economic status of adults with congenital heart disease in a developing country.

    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

    authors: Eslami B,Sundin O,Macassa G,Reza Khankeh H,Soares JJ

    更新日期:2013-04-01 00:00:00

  • A case of a very large haemorrhagic pericardial effusion in an adolescent patient with COVID-19 infection.

    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

    authors: Gokalp S,Çilsal E,Yukcu B,Yolcu C,Akkoc G,Guzeltas A

    更新日期:2021-01-07 00:00:00

  • Percutaneous closure of ostium secundum atrial septal defect using left internal jugular vein access in a child with situs inversus and absence of inferior caval vein.

    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

    authors: Oliveira EC,Moura MAG,Almeida JA,Ribeiro ALP,Nascimento BR

    更新日期:2019-10-01 00:00:00

  • Evaluation of cardiac autonomic function using heart rate variability in children with acute carbon monoxide poisoning.

    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

    authors: Vural C,Dinleyici EC,Kosger P,Bolluk O,Kilic Z,Ucar B

    更新日期:2017-11-01 00:00:00

  • Dilated cardiomyopathy presenting during fetal life.

    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

    authors: Sivasankaran S,Sharland GK,Simpson JM

    更新日期:2005-08-01 00:00:00

  • Factors prolonging length of stay in the cardiac intensive care unit following the arterial switch operation.

    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

    authors: Wheeler DS,Dent CL,Manning PB,Nelson DP

    更新日期:2008-02-01 00:00:00

  • Endocarditis of a congenital coronary fistula in a child.

    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

    authors: Krasemann T,van Beynum IM,Frohn-Mulder IME,Dalinghaus M

    更新日期:2018-02-01 00:00:00

  • Plasmatic NT-proBNP could help to select cases for screening echocardiography in healthy infants with Respiratory Syncytial Virus infection.

    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

    authors: Rodriguez-Gonzalez M,Benavente-Fernandez I,Castellano-Martinez A

    更新日期:2019-11-01 00:00:00

  • Use of diagnostic information submitted to the United Kingdom Central Cardiac Audit Database: development of categorisation and allocation algorithms.

    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

    authors: Brown KL,Crowe S,Pagel C,Bull C,Muthialu N,Gibbs J,Cunningham D,Utley M,Tsang VT,Franklin R

    更新日期:2013-08-01 00:00:00

  • Surgical repair in neonatal life of cardiac haemangiomas diagnosed prenatally.

    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

    authors: Sharma J,Hirata Y,Mosca RS

    更新日期:2009-08-01 00:00:00

  • Complex atrial arrhythmias as first manifestation of catecholaminergic polymorphic ventricular tachycardia: an unusual course in a patient with a new mutation in ryanodine receptor type 2 gene.

    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

    authors: Lawrenz W,Krogmann ON,Wieczorek M

    更新日期:2014-08-01 00:00:00

  • Congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa: a case report.

    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

    authors: Harrington JK,Glickstein J,Shah A

    更新日期:2017-05-29 00:00:00

  • Myocardial infarction in infancy caused by compression of an anomalous left coronary artery arising from the right coronary artery.

    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

    authors: Duke C,Rosenthal E,Simpson JM

    更新日期:2004-12-01 00:00:00

  • Anthracycline-related acute cardiotoxicity in a very young Omani patient with acute myeloid leukaemia.

    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

    authors: Tony S,Mevada R,Joshi N

    更新日期:2020-11-24 00:00:00

  • Developmental considerations with regard to so-called absence of the leaflets of the arterial valves.

    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

    authors: Tretter JT,Steffensen T,Westover T,Anderson RH,Spicer DE

    更新日期:2017-03-01 00:00:00

  • Dexmedetomidine utilisation and outcomes of children with trisomy 21 undergoing congenital heart disease surgery.

    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

    authors: Moffett BS,Mossad EB,Tobias JD,Cabrera AG

    更新日期:2015-06-01 00:00:00

  • Mid-term follow-up study of neonatal isolated aberrant right subclavian artery.

    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

    authors: Jan SL,Lin MC,Chan SC

    更新日期:2018-08-01 00:00:00