scholarly journals OC11.09: Congenital heart disease and the diagnostic yield with exome sequencing (CODE Study): a prospective cohort study and systematic review

2020 ◽  
Vol 56 (S1) ◽  
pp. 34-34
Author(s):  
F. Mone ◽  
R. Eberhardt ◽  
R.K. Morris ◽  
M.E. Hurles ◽  
D.J. McMullan ◽  
...  
Keyword(s):  
Systematic Review ◽  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Exome Sequencing ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Diagnostic Yield

The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study

2021 ◽  
pp. 1-8
Author(s):  
Fionnuala Mone ◽  
Bethany K. Stott ◽  
Susan Hamilton ◽  
Anna N. Seale ◽  
Elizabeth Quinlan-Jones ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Diagnostic Yield ◽  
Genetic Diagnosis ◽  
Uncertain Significance ◽  
Conotruncal Anomalies

<b><i>Introduction:</i></b> The objective was to evaluate: (i) the proportion of prenatally diagnosed congenital heart disease (CHD) associated with an abnormal quantitative fluorescence-PCR (QF-PCR), chromosome microarray (CMA), and exome sequencing (ES) result; and (ii) the diagnostic yield of these technologies based on CHD category and presence of extra-cardiac anomalies (ECAs). <b><i>Methods:</i></b> This prospective cohort study was set across 12 UK foetal medicine centres. All cases underwent QF-PCR, CMA, and ES, and the diagnostic yield in <i>n</i> = 147 cases of prenatally diagnosed CHD was assessed. <b><i>Results:</i></b> In 34.7% (<i>n</i> = 51/147), a genetic diagnosis was obtained. Using a stepwise testing strategy, the diagnostic yield for QF-PCR, CMA, and ES was 15.6% (<i>n</i> = 23/147), 13.7% (<i>n</i> = 17/124), and 10.2% (<i>n</i> = 11/107), respectively. Abnormal QF-PCR/shunt (septal) defects 31.4% (<i>n</i> = 11/35), <i>p</i> = 0.046, and abnormal CMA/conotruncal anomalies 22.7% (<i>n</i> = 10/44), <i>p</i> = 0.04, had significant associations. Monogenic variants were commonest in complex CHD 36.4% (<i>n</i> = 4/11). Multisystem CHD had a greater diagnostic yield overall compared to isolated OR 2.41 (95% CI, 1.1–5.1), particularly in association with brain and gastrointestinal tract anomalies. The proportion of variants of uncertain significance was 4.7% (<i>n</i> = 5/107) with ES, with none in the CMA group. <b><i>Conclusion:</i></b> In the era of prenatal ES, there remains an important role for QF-PCR and CMA. Identification of monogenic pathologic variants further allows delineation of prognosis in CHD.

scholarly journals Effects of Cardiopulmonary Rehabilitation on the Muscle Function of Children with Congenital Heart Disease: A Prospective Cohort Study

2021 ◽  
Vol 18 (11) ◽  
pp. 5870
Author(s):  
Francisco José Ferrer-Sargues ◽  
Esteban Peiró-Molina ◽  
Maria Àngels Cebrià i Iranzo ◽  
José Ignacio Carrasco Moreno ◽  
Ana Cano-Sánchez ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Prospective Cohort Study ◽  
Muscle Function ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Biceps Brachii ◽  
Handgrip Strength ◽  
Triceps Surae

Critical medical and surgical advances have led to a shift in the care and management of children with congenital heart disease (CHD). These patients present with muscle deconditioning, which negatively influences their response to exercise, functional capacities, and quality of life. This study evaluates the influence of a cardiopulmonary rehabilitation program (CPRP) on the function of peripheral musculature of children with CHD. A single-center prospective cohort study was designed. Fifteen CHD subjects, between 12 and 16 years of age, with reduced aerobic capacity on a cardiopulmonary exercise test, were included in a three-month, 24-session CPRP. Measurements of the subjects’ handgrip strength, biceps brachii and quadriceps femoris strength, and triceps surae fatigue process were collected at the beginning of the program, after completion, and six months after the end of the intervention. A substantial and statistically significant improvement was observed in the subjects’ handgrip strength (kg) (p < 0.001), biceps brachii and quadriceps femoris strength (N) (p < 0.001), as well as triceps surae fatigue process (repetitions) (p = 0.018), with a maintenance of the results six months after the intervention. These results suggest that a CPRP could potentially improve the peripheral muscle function of children with CHD. Additional research is needed to confirm and expand on this hypothesis.

The Impact of an Infant's Severe Congenital Heart Disease on the Family: A Prospective Cohort Study

2013 ◽  
Vol 9 (3) ◽  
pp. 203-210 ◽  
Author(s):  
Helene Werner ◽  
Beatrice Latal ◽  
Emanuela Valsangiacomo Buechel ◽  
Ingrid Beck ◽  
Markus A. Landolt
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
The Family ◽  
Severe Congenital Heart Disease ◽  
The Impact

scholarly journals Identification of risk factors affecting catch-up growth after infant congenital heart disease surgery: rationale and design of a multicentre prospective cohort study in China

BMJ Open ◽  
2019 ◽  
Vol 9 (8) ◽  
pp. e030084 ◽  
Author(s):  
Lijuan Li ◽  
Kuanrong LI ◽  
Caixia An ◽  
Jiajie Fan ◽  
Changying Guo ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Ethics Committees ◽  
Care Hospital ◽  
Term Survival ◽  
Catch Up

IntroductionSuccessful surgical treatment of congenital heart disease improves neonates’ long-term survival and leads to catch-up growth, which however does not occur in part of the patient population for largely undetermined reasons.Methods and analysisA multicentre, prospective cohort study is being conducted in four paediatric medical institutions in China to collect detailed nutritional, anthropometric and clinical data at perioperative phases and during a 1-year period of follow-up after surgery. The study is expected to recruit approximately 5000 patients by the year of 2023 when the cohort is fully established. The primary endpoint of this study is the occurrence of postoperative catch-up growth, which will be determined in both absolute and relative terms (ie, reduced anthropometric deficits from the reference measures and improved z-scores that have passed the −2 SD cut-offs). Multivariable regression analyses will be performed to identify factors that are statistically significantly associated with the absence of postoperative catch-up growth.Ethics and disseminationThe protocol of this study has been approved by the individual ethics committees of the participating centres (Guangzhou Women and Children’s Medical Centre (2008071601), the Children’s Hospital of Zhejiang University School of Medicine (2018-IRB-094), Gansu Provincial Maternity and Child-Care Hospital (2019-IRB-01) and Zhengzhou Cardiovascular Hospital (2019012001)). Written informed consent from parents will be obtained before study entry. Findings of this study will be disseminated through publications in international peer-reviewed journals and will be presented in academic conferences.

scholarly journals Increased Risk of Recurrent Acute Respiratory Infections in Children with Congenital Heart Disease: A Prospective Cohort Study

2020 ◽  
Vol 12 (4) ◽  
pp. 355-360
Author(s):  
Mulyadi Muhammad Djer ◽  
Emilda Osmardin ◽  
Badriul Hegar ◽  
Darmawan Budi Setyanto
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Respiratory Infections ◽  
Acute Respiratory Infections ◽  
Local Data ◽  
Increased Risk

BACKGROUND: There is a lack of local data about recurrent acute respiratory infections in children with congenital heart disease (CHD). This study aims to investigate the incidence and recurrence of acute respiratory infection (ARI) in left-to-right shunt CHD.METHODS: This prospective cohort study investigated children with left-to-right shunt CHD, aged three months to five years, at Dr. Cipto Mangunkusumo Hospital between September 2012 and April 2013. Age and sex-matched participants without CHD were recruited as reference. The occurrence of ARI was observed for six months. Acyanotic CHD patients from 2015 to 2019 were also evaluated to determine the proportion of ARI among this population.RESULTS: A total of 100 subjects were enrolled in the study, 50 in the CHD group and 50 in the non-CHD group, six of whom were later excluded. The monthly incidence of ARI in the CHD group ranged between 40-60% (p=0.027). Subjects with CHD had a cumulative increased risk of 10% for acquiring ARI (RR=1.1; 95% CI=1.02-1.2, p=0.027). The proportion of subjects with a high recurrence of ARI was also higher in the CHD compared to the non-CHD group (67% vs. 30 %, p<0.001). The mean frequency of and median duration of ARI episodes was also higher in CHD compared to the non-CHD group, 3 vs. 1.5 episodes (p<0.001), and 7 vs. 5 days, respectively.CONCLUSION: Children with CHD are at an increased risk of ARI, with more episodes and longer duration compared to children without CHD.KEYWORDS: non-cyanotic CHD, left-to-right shunt, acute respiratory infections

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