Cryopreserved Saphenous Vein Compared With PTFE Graft for Use as Modified Blalock-Taussig or Central Shunt in Cyanotic Congenital Heart Disease

2018 ◽  
Vol 9 (5) ◽  
pp. 509-512 ◽  
Author(s):  
Resham Kaur ◽  
Dilli Bhurtel ◽  
Mark R. Bielefeld ◽  
J. Mark Morales ◽  
Lucian A. Durham
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Saphenous Vein ◽  
Incomplete Data ◽  
Congenital Heart ◽  
Study Cohort ◽  
Ptfe Graft ◽  
Safe Alternative ◽  
Cardiac Condition ◽  
Shunt Group

Many infants with congenital heart disease undergo palliative shunt procedures. In our center, cryopreserved saphenous vein and polytetrafluoroethylene (PTFE) are used as grafts to construct these shunts. In this retrospective review, we compare morbidity, mortality, and freedom from reoperation associated with the use of these graft materials. We conducted a retrospective study of 136 consecutive patients who were palliated with shunts between 2006 and 2015. A total of 136 patients were identified, 9 had incomplete data; thus, 127 patients were included: 69 saphenous and 58 PTFE. The cohorts were matched with respect to birth weight, gestational age, age and weight at time of surgery, and underlying cardiac condition. There were 15 (12%) deaths in the study cohort with no intraoperative mortality. Thrombosis was seen in 5.2% (2/38) of the saphenous modified Blalock-Taussig shunt (mBTS) group and 20.6% (14/68) of those with PTFE mBTS. There was no thrombosis in the central shunt group. Freedom from reoperation was 83% in the saphenous vein group and 81% in the PTFE group. There was no difference in overall morbidity or mortality, although thrombosis was significantly less in the saphenous vein group. Cryopreserved saphenous vein is a safe alternative, either as a mBTS or as a central shunt.

scholarly journals Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis

2013 ◽  
Vol 32 (2) ◽  
pp. 152-157
Author(s):  
Nora Fawzi ◽  
Ramachandran Vasudevan ◽  
Patimah Ismail ◽  
Mazeni Alwi ◽  
Ahmad Fazli Abdul Aziz ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Resolution ◽  
Congenital Heart ◽  
High Resolution Melting ◽  
New Technology ◽  
Cost Effective ◽  
Study Cohort ◽  
Hrm Analysis ◽  
Melting Analysis

Summary Background: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases. GATA-binding protein 4 (GATA4), a cardiac transcription factor gene, has a crucial role in the cardiogenesis process; hence, a number of heterozygote sequence variations were identified as a cause of CHD. G296S heterozygote variant is the most frequently reported GATA4 gene sequence alteration. This study aims to investigate the role of G296S variant of the GATA4 gene in Malaysian CHD subjects. Methods: We have investigated 86 Malaysian CHD subjects with cardiac septation defects for the presence of the GATA4 gene heterozygote variant (G296S) by the new technology of high resolution melting (HRM) analysis. Results: Genotyping of G296S (c.886G>A) by HRM analysis shows that all the sample genotypes were of the wild GG type genotype and the heterozygote mutant GA genotype was totally absent from this study cohort. Conclusions: The results of our study showed that the G296S variant of the GATA4 gene was not associated with the development of CHD in Malaysian subjects. The use of HRM analysis proved a cost-effective, high-throughput, specific and sensitive genotyping technique which eliminates the need for unnecessary sequencing.

Imaging-Based Wave Intensity Analysis: Applications in Congenital Heart Disease

2013 ◽  
Author(s):  
Giovanni Biglino ◽  
Hopewell N. Ntsinjana ◽  
Kim H. Parker ◽  
Silvia Schievano ◽  
Andrew M. Taylor
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Arterial Switch Operation ◽  
Small Population ◽  
Wave Intensity ◽  
Study Cohort ◽  
Intensity Analysis ◽  
Wave Intensity Analysis ◽  
Congenital Aortic Stenosis

Wave intensity analysis is a hemodynamic index evaluating the working condition of the heart in relation to the rest of the vasculature [1]. As such it carries valuable mechanistic information on ventriculo-arterial (VA) coupling. Its applications have ranged from studies of cardiac assist devices to fetal studies. Our group has proposed a way to derive wave intensity from phase-contrast magnetic resonance (PCMR) data [2]. We now suggest that this technique has a duple potential: (a) comparing patients against healthy subjects to investigate VA coupling and mechanistic changes related to surgery or devices, and (b) providing measures and indices to assess hemodynamic scenarios adding valuable mechanistic considerations. We aim to show both applications in the complex field of congenital heart disease. In the first instance, we will use this methodology to assess changes in wave speed and VA coupling in patients with transposition of the great arteries (TGA) repaired with arterial switch operation and palliated with atrial switch. In the second case, we will assess the potential of wave intensity-derived parameters for detecting diastolic dysfunction, and we selected a small population of patients with congenital aortic stenosis as a first suitable study cohort.

scholarly journals The Congenital Heart Disease Genetic Network Study: Cohort description

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0191319 ◽  
Author(s):  
Thanh T. Hoang ◽  
Elizabeth Goldmuntz ◽  
Amy E. Roberts ◽  
Wendy K. Chung ◽  
Jennie K. Kline ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Genetic Network ◽  
Study Cohort

Use of saphenous vein allografts for aortopulmonary artery anastomoses in neonates with complex cyanotic congenital heart disease

1984 ◽  
Vol 5 (1) ◽  
pp. 13-17 ◽  
Author(s):  
Delores Danilowicz ◽  
Richard G. Ishmael ◽  
Eugenie F. Doyle ◽  
O. Wayne Isom ◽  
Stephen B. Colvin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Saphenous Vein ◽  
Congenital Heart ◽  
Cyanotic Congenital Heart Disease

scholarly journals Network Assisted Analysis of De Novo Variants Using Protein-Protein Interaction Information Identified 46 Candidate Genes for Congenital Heart Disease

2021 ◽  
Author(s):  
Yuhan Xie ◽  
Wei Jiang ◽  
Weilai Dong ◽  
Hongyu Li ◽  
Sheng Chih Jin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Candidate Genes ◽  
Protein Interaction ◽  
Congenital Heart ◽  
De Novo ◽  
Study Cohort ◽  
Risk Genes ◽  
Protein Protein Interaction ◽  
Ppi Networks

De novo variants (DNVs) with deleterious effects have proved informative in identifying risk genes for early-onset diseases such as congenital heart disease (CHD). A number of statistical methods have been proposed for family-based studies or case/control studies to identify risk genes by screening genes with more DNVs than expected by chance in Whole Exome Sequencing (WES) studies. However, the statistical power is still limited for cohorts with thousands of subjects. Under the hypothesis that connected genes in protein-protein interaction (PPI) networks are more likely to share similar disease association status, we develop a Markov Random Field model that can leverage information from publicly available PPI databases to increase power in identifying risk genes. We identified 46 candidate genes with at least 1 DNV in the CHD study cohort, including 18 known human CHD genes and 35 highly expressed genes in mouse developing heart. Our results may shed new insight on the shared protein functionality among risk genes for CHD.

scholarly journals Genotypes and Phenotypes: Making Progress Toward a Precision Medicine Approach in Pediatric Pulmonary Hypertension

2018 ◽  
Vol 17 (4) ◽  
pp. 153-158 ◽  
Author(s):  
Rachel K. Hopper ◽  
Mary P. Mullen
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Lung Disease ◽  
Precision Medicine ◽  
Growth And Development ◽  
Congenital Heart ◽  
Normal Lung ◽  
Pulmonary Vasculature ◽  
Cardiac Condition

Pediatric pulmonary hypertension (PH) is a heterogeneous disease that includes etiologies related to growth and development that are unique to children. Recent pediatric registry studies have characterized diverse phenotypes even within recognized PH subtypes, including PH associated with congenital heart disease and developmental lung disease. Advances in genetics are resulting in increased understanding of the genetic basis for PH, with recent discoveries such as TBX4 mutations specific for pediatric-onset pulmonary arterial hypertension (PAH) and SOX17 related to congenital heart disease–associated PAH. In addition to potential genetic underpinnings, PAH risk and clinical presentation in children with congenital heart disease may vary by cardiac condition, such as single-ventricle physiology or transposition of the great arteries. Growth and development of the pulmonary vasculature likely plays a role in all pediatric PH, which is highlighted by the disruption of normal lung growth in patients with PH related to prematurity and developmental lung disease. These diverse pediatric genotypes and phenotypes underscore a need for an individualized approach to diagnose and treat the complex pediatric PH population. Magnetic resonance imaging (MRI) is increasingly being used to improve clinical characterization of PH in children, with recent identification of specific MRI biomarkers associated with PH severity and outcomes. While much progress has been made, additional understanding of the important genetic causes and developmental concepts in pediatric PH is needed to develop a precision medicine approach to diagnosis and treatment of children with PH.

scholarly journals Thyroid arterial embolization in a patient with congenital heart disease and refractory amiodarone-induced thyrotoxicosis

2022 ◽  
Vol 11 (1) ◽  
Author(s):  
Bruno Bouça ◽  
Ana Cláudia Martins ◽  
Paula Bogalho ◽  
Lídia Sousa ◽  
Tiago Bilhim ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Hospital Admissions ◽  
Case Reports ◽  
Therapeutic Option ◽  
Arterial Embolization ◽  
List Type ◽  
Cardiac Condition

Introduction Amiodarone-induced thyrotoxicosis (AIT) can sometimes lead to life-threatening complications, especially in patients with congenital heart disease (CHD). We report the case of a patient with refractory AIT that was successfully treated with thyroid arterial embolization (TAE). Case report A 34-year-old man with complex cyanotic CHD complicated with heart failure (HF), pulmonary hypertension, and supraventricular tachyarrhythmias, was treated with amiodarone since 2013. In March 2019, he presented worsening of his cardiac condition and symptoms of thyrotoxicosis that were confirmed by laboratory assessment. Thiamazole 30 mg/day and prednisolone 40 mg/day were prescribed, but the patient experienced worsening of his cardiac condition with several hospital admissions in the next 5 months, albeit increasing dosages of thionamide and glucocorticoid and introduction of cholestyramine and lithium. Thyroidectomy was excluded due to the severity of thyrotoxicosis, and plasmapheresis was contraindicated due to the cardiac condition. TAE of the four thyroid arteries was then performed with no immediate complications. Progressive clinical and analytical improvement ensued with gradual reduction and suspension of medication with the patient returning to euthyroid state and his usual cardiac condition previous to the AIT. Conclusion For patients with medication refractoriness and whose condition precludes thyroidectomy, embolization of thyroid arteries may be an effective and safe option. Established facts Amiodarone-induced thyrotoxicosis (AIT) can be refractory to a combination therapy of thionamides and glucocorticoids. Restoration of euthyroidism is of paramount importance in heart failure (HF) patients. Emergency thyroidectomy for AIT unresponsive to medical therapy is recommended in patients with severe underlying cardiac disease or deteriorating cardiac function. Novel insights Thyroid arterial embolization (TAE) appeared as a salvage therapy in this patient. To the best of our knowledge, few case reports in the literature have described the embolization of the four thyroid arteries in AIT context. Endovascular embolization techniques are a valuable therapeutic option and can be considered in cases where standard forms of treatment are ineffective or involve unacceptable risks.

Abstracts for the British Congenital Cardiac Association Annual Meeting: The Barbican, London, 24–25 November 2005: Poster Presentations: 8 Years of fetal echocardiography in high-risk mothers: The Birmingham Women’s Hospital experience

2006 ◽  
Vol 16 (3) ◽  
pp. 322-323
Author(s):  
S. V. Rasiah ◽  
A. K. Ewer ◽  
P. Miller ◽  
J. G. Wright ◽  
M. D. Kilby
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Risk ◽  
Congenital Heart ◽  
Fetal Echocardiography ◽  
Nuchal Translucency ◽  
Initial Screening ◽  
Affected Child ◽  
Cardiac Condition ◽  
Diabetic Mothers

Introduction: Congenital heart disease (CHD) affects 8 per 1000 live births and it is also responsible for 20% of neonatal deaths. Antenatal diagnosis of major CHD allows appropriate counselling and planning for delivery at a neonatal unit with appropriate intensive care and transport facilities. Birmingham Women’s Hospital provides a supra-regional specialist fetal echocardiography in high-risk mothers. Aim: To evaluate fetal echocardiography findings in high-risk mothers over an 8 year period. Method: We undertook a retrospective review of all pregnant women at high-risk of having a baby with congenital heart disease who underwent fetal echocardiography between 01/01/1997 and 31/12/2004 at Birmingham Women’s Hospital. Results: 3,963 mothers were referred for fetal echocardiography and a total of 5,568 fetal echocardiography examinations were carried out during this period. The main reasons for referral were: (i) previously affected child – 27% (ii) abnormal initial screening scan – 20.7% (iii) maternal cardiac condition – 9.5% (iv) infant of diabetic mothers – 8% and (v) increased fetal nuchal translucency – 3%. Seven hundred and twleve (17.9%) echocardiograms were reported as abnormal. The majority of the abnormalities were identified in mothers who had abnormal initial screening scan (62%). In addition, the echocardiogram was also abnormal in 9% of cases with increased fetal nuchal translucency and in 5.7% of infants of diabetic mothers. In those with previously affected child and maternal cardiac condition, the echocardiogram was abnormal in 2.5% and 2.6% respectively. Conclusion: Abnormal initial screening scans and increased nuchal translucency had the highest yield in identifying CHD in high-risk mothers. Infant of diabetic mothers also have an increased risk warranting fetal cardiac screening for CHD. Normal fetal echocardiogram provides reassurance for the remainder of parents.

scholarly journals Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 675 ◽  
Author(s):  
Pinna ◽  
Daniele ◽  
Calcagni ◽  
Mariniello ◽  
Criscione ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Neurofibromatosis Type 1 ◽  
Odds Ratio ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Neurofibromatosis Type ◽  
Study Cohort ◽  
Pulmonary Valve Stenosis

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (p = 0.038) or pulmonary valve stenosis (98/459, 21.4%) (p = 0.002). Similarly, patients with non-truncating NF1 mutations displayed two- and six-fold higher risk of developing CHD (odds ratio = 1.9713, 95% confidence interval (CI): 1.1162–3.4814, p = 0.0193) and pulmonary valve stenosis (odds ratio = 6.8411, 95% CI: 2.6574–17.6114, p = 0.0001), respectively. Noteworthy, all but one patient (19/20, 95.0%) with pulmonary valve stenosis, and 18/35 (51.4%) patients with other CHDs displayed Noonan syndrome (NS)-like features. Present data confirm the significant frequency of CHD in patients with NF1, and provide further evidence for a higher than expected prevalence of NF1 in-frame variants and NS-like characteristics in NF1 patients with CHD, particularly with pulmonary valve stenosis.

scholarly journals MLPA � first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease

2020 ◽  
Vol 71 (2) ◽  
pp. 175-178
Author(s):  
Elena Moldovan ◽  
Valeriu Moldovan ◽  
Claudia Banescu ◽  
Lucian Puscasiu ◽  
Manuela Cucerea
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Correct Diagnosis ◽  
Neonatal Morbidity ◽  
Copy Number Variations ◽  
Molecular Testing ◽  
Study Cohort ◽  
Screening Assay

Congenital heart disease(CHD) is the most frequent malformative pathology seen in newborns, with an incidence of 10/1000 births, and is considered a major cause of neonatal morbidity and mortality. About one third of congenital heart disease cases are of genetic origin, particular copy number variations being described as possible nonsyndromic and syndromic congenital heart disease causes. Here, we set out to find whether the MLPA technique could be used as a first-tier screening assay in newborns with apparently nonsyndromic CHDs, and thus to genetically confirm the CHD diagnosis. The study cohort included 60 newborns diagnosed with apparently nonsyndromic congenital heart disease, recruited for a period of 18 months. MLPA analysis was performed using the SALSA MLPA P311 and P250 kits. 10 newborns (16.67%) showed known genetically relevant copy number variations, namely three patients with 22q11.21 deletion, that were diagnosed with DiGeorge syndrome, and seven patients with a probable single exon 8p23.1 duplication that will be subjected to further molecular testing, in order to correctly assess their diagnosis. We can conclude that the screening of patients with apparently nonsyndromic congenital heart disease may lead to their early and correct diagnosis, and thus them benefitting from the detection of clinically relevant copy number variations using the MLPA technique.

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