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 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.

Reconstruction of a Previously Repaired Aortic Valve Destroyed by Infective Endocarditis: Case Report

2016 ◽  
Vol 8 (3) ◽  
pp. 408-410
Author(s):  
Tomas Chalela ◽  
Viktor Hraska
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Infective Endocarditis ◽  
Aortic Valve ◽  
Congenital Heart ◽  
Congenital Aortic Stenosis ◽  
Life Threatening ◽  
History Of ◽  
Uncommon Condition

Infective endocarditis (IE) is an uncommon condition among patients with congenital heart disease, however it can be life threatening. The usual management includes replacement of the affected valve, especially in patients with aortic valve compromise, and is even more common in previously repaired valves. In this case report, we describe the successful reconstruction of an aortic root destroyed by IE, in a patient with history of ballooning of a congenital aortic stenosis.

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

Moderate to complex congenital heart disease

2016 ◽  
Author(s):  
Daryl P. Dob ◽  
Elspeth E. Pickering ◽  
Michael A. Gatzoulis
Keyword(s):  
Quality Of Life ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Early Death ◽  
Western World ◽  
Complex Congenital Heart Disease ◽  
Congenital Aortic Stenosis ◽  
Eisenmenger’S Syndrome

Children born with congenital heart disease no longer face the prospect of early death and a poor quality of life. In fact, most neonates with moderate to complex congenital heart disease have a survival rate to adulthood of over 80%. The ratio of adults to children with congenital heart disease is increasing, due to better surgical repairs, and longer survival with a better quality of life. In the Western world, there are more adults than children alive with congenital heart disease. This remarkable medical effort has allowed young women with congenital heart disease to mature to an age where they wish to have babies of their own. Early generations of women, palliated with Mustard or Senning repairs, have shown it is possible to face the cardiovascular challenges of pregnancy and survive. As the number of women with congenital heart disease is predicted to grow by 25% in the next decade and more women with congenital heart disease become pregnant; a better understanding of moderate to complex heart disease, different surgical repair procedures, and residual anomalies is paramount. This chapter examines the management of parturients with transposition complexes (both classical and congenitally corrected), tetralogy of Fallot, the Fontan circulation, Eisenmenger’s syndrome, and congenital aortic stenosis, taking into consideration the effect of pregnancy, labour, delivery, and anaesthesia on each circulation.

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 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.

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 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.

scholarly journals Factors associated with a lower chance of having gaps in care in adult congenital heart disease

2021 ◽  
pp. 1-6
Author(s):  
Jong Mi Ko ◽  
Lisa R. Yanek ◽  
Ari M. Cedars
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Adult Congenital Heart Disease ◽  
Multivariable Logistic Regression Analysis ◽  
Study Cohort ◽  
Factors Associated ◽  
Paediatric Care ◽  
Significant Difference ◽  
Care Gaps

Abstract Background: To promote good health in patients with congenital heart disease (CHD), prevention of gaps in care is essential, as adverse prognosis is associated with care gaps. A well-organised, formal transition programme may help prevent loss to follow up after leaving paediatric care. To inform the development of a transition programme, we investigated factors associated with care gaps in adults with CHD. Methods: Between 15 October 2018 and 15 November 2019 data on patient characteristics and patient experiences with transition-related education, difficulties, and gaps in care were collected and assessed in 87 adults with CHD. Two groups (with gaps in care versus without gaps) were compared to identify informative differences using chi-squared, Fisher’s exact tests, or Wilcoxon rank-sum tests. To assess the relationship between care gaps and identified variables, factors with significant difference (p < 0.05) in bivariate analyses were employed as covariates in multivariable logistic regression analysis. Results: About half of the study cohort reported having gaps in care. In a multivariate model, patients having thorough discussion about the importance of receiving adult care in paediatric care were 70% less likely to experience gaps (odds ratio 0.303, 95% CI 0.14, 0.66). Forty-seven percent of patient-perceived barriers to transitioning originated from negative feelings associated with transfer. Conclusion: Gaps in care are highly prevalent in adults with CHD. For a transition programme to be most effective, curriculum development may need to consider the differential impact of various factors and target areas to mitigate the psychological stress associated with transfer.

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