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Patients with congenital heart defect and their families support genetic heart research.

Congenit Heart Dis. 2018 Sep;13(5):685-689

Authors: Helm PC, Bauer UMM, Abdul-Khaliq H, Baumgartner H, Kramer HH, Schlensak C, Pickardt T, Kahlert AK, Hitz MP

Abstract
BACKGROUND: Congenital heart disease (CHD) affects up to 1% of live births the etiology remains relatively poorly understood. Thus, cardiac research is needed to understand the underlying pathomechanisms of the disease. About 51 000 CHD patients are registered in the German National Register for Congenital Heart Defects (NRCHD). Patients and relatives were interviewed online about their willingness to support genetic heart research in order to donate a biological sample.
METHODS: Study participants were recruited via the database of the NRCHD. Seven thousand nine hundred eighty-nine patients were invited to participate in the study. Participants have been asked to rate three questions on a ten-staged Likert scale about their willingness to provide a saliva/blood sample and their motivation to ask family members to support genetic heart research.
RESULTS: Overall, 2035 participants (patients/relatives) responded the online survey (25.5%). Two-thirds of the participants are willing to donate a saliva sample. Whereas the motivation to provide a blood sample is slightly lower (patients: 63.8%, relatives: 60.6%). Female relatives are more fain to provide a saliva sample as well as a blood sample compared to men (saliva sample: P < .001, blood sample: P < .01). The motivation to ask an additional family member for a biological sample was significantly higher in relatives (59.2%) compared to patients (48.4%).
CONCLUSIONS: The motivation to provide biological samples is high reflecting the need for genetic research to unravel the pathomechanism of CHD. A future aim should be to offer an individual risk assessment for each patient based on the underlying genetics.

PMID: 30272834 [PubMed - indexed for MEDLINE]

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Comparative study on maternal and fetal outcome in pregnant women with rheumatic heart disease and severe mitral stenosis undergoing percutaneous balloon mitral valvotomy before or during pregnancy.

Indian Heart J. 2018 Sep - Oct;70(5):685-689

Authors: Sharma JB, Yadav V, Mishra S, Kriplani A, Bhatla N, Kachhawa G, Kumari R, Toshayan V

Abstract
INTRODUCTION: Mitral stenosis due to rheumatic heart disease is a common problem in India causing significant morbidity and mortality. We have compared the maternal and fetal outcome of women with severe mitral stenosis undergoing percutaneous balloon mitral valvotomy before or during pregnancy.
METHODS: A total of 24 women of severe rheumatic mitral stenosis who underwent balloon mitral valvotomy before pregnancy (14 women, group 1) or during pregnancy (10 women, group 2) were included in the retrospective descriptive analysis.
RESULTS: The mean age was 25.5±3.6 yrs in group 1 and 25.7±3.5 yrs in group 2. There was no difference in characteristics -primigravidas, time since diagnosis from pregnancy, NYHA (New York Heart Association) class and associated medical problems in the two groups. There was significant difference in cardiac events during pregnancy in the two groups. New York Heart Association class deterioration was observed in only 3(21.4% women in group 1) as compared to all (10; 100% women) in group 2(p<0.001). The incidence of arrhythmias and atrial fibrillation was not different in two groups. Obstetric events were similar in the two groups. Mode of delivery and caesarean section rate was also similar in the two groups. There was no significant difference in mean birth weights (2399.75±601.8gm vs. 2641.70±580.6gm),rate of fetal growth restriction, still birth and congenital malformation rates in the two groups.
CONCLUSION: Percutaneous mitral valvotomy for patients with severe mitral stenosis can be safely performed during pregnancy and has equivalent maternal and fetal outcomes as that performed before pregnancy.

PMID: 30392507 [PubMed - indexed for MEDLINE]

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The year in cardiology 2018: valvular heart disease.

Eur Heart J. 2019 Jan 02;:

Authors: Wojakowski W, Baumgartner H

PMID: 30602001 [PubMed - as supplied by publisher]

Extended cardiac ambulatory rhythm monitoring in adults with congenital heart disease: Arrhythmia detection and impact of extended monitoring.

Congenit Heart Dis. 2019 Jan 03;:

Authors: Schultz KE, Lui GK, McElhinney DB, Long J, Balasubramanian V, Sakarovitch C, Fernandes SM, Dubin AM, Rogers IS, Romfh AW, Motonaga KS, Viswanathan MN, Ceresnak SR

Abstract
BACKGROUND: Arrhythmias are a leading cause of death in adults with congenital heart disease (ACHD). While 24-48-hour monitors are often used to assess arrhythmia burden, extended continuous ambulatory rhythm monitors (ECAM) can record 2 weeks of data. The utility of this device and the arrhythmia burden identified beyond 48-hour monitoring have not been evaluated in the ACHD population. Additionally, the impact of ECAM has not been studied to determine management recommendations.
OBJECTIVE: To address the preliminary question, we hypothesized that clinically significant arrhythmias would be detected on ECAM beyond 48 hours and this would lead to clinical management changes.
METHODS: A single center retrospective cohort study of ACHD patients undergoing ECAM from June 2013 to May 2016 was performed. The number and type of arrhythmias detected within and beyond the first 48 hours of monitoring were compared using Kaplan-Meier curves and Cox proportional hazard models.
RESULTS: Three hundred fourteen patients had monitors performed [median age 31 (IQR 25-41) years, 61% female). Significant arrhythmias were identified in 156 patients (50%), of which 46% were noted within 48 hours. A management change based on an arrhythmia was made in 49 patients (16%).
CONCLUSIONS: ECAM detects more clinically significant arrhythmias than standard 48-hour monitoring in ACHD patients. Management changes, including medication changes, further testing or imaging, and procedures, were made based on results of ECAM. Recommendations and guidelines have been made based on arrhythmias on 48-hour monitoring; the predictive ability and clinical consequence of arrhythmias found on ECAM are not yet known.

PMID: 30604934 [PubMed - as supplied by publisher]

Sapropterin Treatment Prevents Congenital Heart Defects Induced by Pregestational Diabetes Mellitus in Mice.

J Am Heart Assoc. 2018 Nov 06;7(21):e009624

Authors: Engineer A, Saiyin T, Lu X, Kucey AS, Urquhart BL, Drysdale TA, Norozi K, Feng Q

Abstract
Background Tetrahydrobiopterin is a cofactor of endothelial NO synthase ( eNOS ), which is critical to embryonic heart development. We aimed to study the effects of sapropterin (Kuvan), an orally active synthetic form of tetrahydrobiopterin on eNOS uncoupling and congenital heart defects ( CHD s) induced by pregestational diabetes mellitus in mice. Methods and Results Adult female mice were induced to pregestational diabetes mellitus by streptozotocin and bred with normal male mice to produce offspring. Pregnant mice were treated with sapropterin or vehicle during gestation. CHD s were identified by histological analysis. Cell proliferation, eNOS dimerization, and reactive oxygen species production were assessed in the fetal heart. Pregestational diabetes mellitus results in a spectrum of CHD s in their offspring. Oral treatment with sapropterin in the diabetic dams significantly decreased the incidence of CHD s from 59% to 27%, and major abnormalities, such as atrioventricular septal defect and double-outlet right ventricle, were absent in the sapropterin-treated group. Lineage tracing reveals that pregestational diabetes mellitus results in decreased commitment of second heart field progenitors to the outflow tract, endocardial cushions, and ventricular myocardium of the fetal heart. Notably, decreased cell proliferation and cardiac transcription factor expression induced by maternal diabetes mellitus were normalized with sapropterin treatment. Furthermore, sapropterin administration in the diabetic dams increased eNOS dimerization and lowered reactive oxygen species levels in the fetal heart. Conclusions Sapropterin treatment in the diabetic mothers improves eNOS coupling, increases cell proliferation, and prevents the development of CHD s in the offspring. Thus, sapropterin may have therapeutic potential in preventing CHD s in pregestational diabetes mellitus.

PMID: 30608180 [PubMed - in process]

Transcatheter heart valve interventions: where are we? Where are we going?

Eur Heart J. 2019 Jan 04;:

Authors: Prendergast BD, Baumgartner H, Delgado V, Gérard O, Haude M, Himmelmann A, Iung B, Leafstedt M, Lennartz J, Maisano F, Marinelli EA, Modine T, Mueller M, Redwood SR, Rörick O, Sahyoun C, Saillant E, Søndergaard L, Thoenes M, Thomitzek K, Tschernich M, Vahanian A, Wendler O, Zemke EJ, Bax JJ

Abstract
Transcatheter heart valve interventions have transformed the outcomes of patients with valvular heart disease (VHD) who are unfavourable candidates for surgery. Technological advances have allowed extension of these interventions to younger or lower risk patients and those with other forms of VHD and may in the future permit earlier treatment of VHD in less symptomatic patients or those with moderate disease. The balance of risks and benefits is likely to differ between lower and higher risk patients, and more evidence is needed to evaluate the net benefit of transcatheter technology in these groups. As academic researchers, clinicians, industry, and patient stakeholders collaborate to research these broader indications for transcatheter valve interventions, it is essential to address (i) device durability and deliverability, (ii) specific anatomical needs (e.g. bicuspid aortic valves, aortic regurgitation, mitral and tricuspid valve disease), (iii) operator training, and (iv) the reinforced importance of the multidisciplinary Heart Team.

PMID: 30608523 [PubMed - as supplied by publisher]

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Cyanotic congenital heart disease following fertility treatments in the United States from 2011 to 2014.

Heart. 2018 06;104(11):945-948

Authors: Shamshirsaz AA, Bateni ZH, Sangi-Haghpeykar H, Arian SE, Erfani H, Shamshirsaz AA, Abuhamad A, Fox KA, Ramin SM, Moaddab A, Maskatia SA, Salmanian B, Lopez KN, Hosseinzadeh P, Schutt AK, Nassr AA, Espinoza J, Dildy GA, Belfort MA, Clark SL

Abstract
OBJECTIVE: To examine the risk for cyanotic congenital heart diseases (CCHDs) among live births in the USA, resulting from various forms of infertility treatments.
METHODS: This study is a cross-sectional analysis of live births in the USA from 2011 to 2014. Infertility treatments are categorised into two of the following groups on birth certificates: assisted reproductive technology (ART) fertility treatment (surgical egg removal; eg, in vitro fertilisation and gamete intrafallopian transfer) and non-ART fertility treatment (eg, medical treatment and intrauterine insemination). We compared the risk for CCHD in ART and non-ART fertility treatment groups with those infants whose mothers received no documented fertility treatment and were naturally conceived (NC).
RESULTS: Among 14 242 267 live births from 2011 to 2014, a total of 101 494 live births were in the ART and 81 242 resulted from non-ART fertility treatments. CCHD prevalence in ART, non-ART and NC groups were 393/100 892 (0.39%), 210/80 884 (0.26%) and 10 749/14 020 749 (0.08%), respectively. As compared with naturally conceiving infants, risk for CCHD was significantly higher among infants born in ART (adjusted relative risk (aRR) 2.4, 95% CI 2.1 to 2.7) and non-ART fertility treatment groups (aRR 1.9, 95% CI 1.6 to 2.2). Absolute risk increase in CCHD due to ART and non-ART treatments were 0.03% and 0.02%, respectively. A similar pattern was observed when the analysis was restricted to twins, newborns with birth weights under 1500 g and gestational age of less than 32 weeks.
CONCLUSIONS: Our findings suggest an increased risk for CCHD in infants conceived after all types of infertility treatment.

PMID: 29146625 [PubMed - indexed for MEDLINE]

Related Articles

Accuracy of claim data in the identification and classification of adults with congenital heart diseases in electronic medical records.

Arch Cardiovasc Dis. 2019 Jan 03;:

Authors: Cohen S, Jannot AS, Iserin L, Bonnet D, Burgun A, Escudié JB

Abstract
BACKGROUND: The content of electronic medical records (EMRs) encompasses both structured data, such as billing codes, and unstructured data, including free-text reports. Epidemiological and clinical research into adult congenital heart disease (ACHD) increasingly relies on administrative claim data using the International Classification of Diseases (9th revision) (ICD-9). In France, administrative databases use ICD-10, the reliability of which is largely unknown in this context.
AIMS: To assess the accuracy of ICD-10 codes retrieved from administrative claim data in the identification and classification of ACHD.
METHODS: We randomly included 6000 patients hospitalized at least once in 2000-2014 in a cardiology department with a dedicated specialized ACHD Unit. For each patient, the clinical diagnosis extracted from the EMR was compared with the assigned ICD-10 codes. Performance of ICD-10 codes in the identification and classification of ACHD was assessed by estimating sensitivity, specificity and positive predictive value.
RESULTS: Among the 6000 patients included, 780 (13%) patients with ACHD were manually identified from EMRs (107,092 documents). ICD-10 codes correctly categorized 629 as having ACHD (sensitivity 0.81, 95% confidence interval 0.78-0.83), with a specificity of 0.99 (95% confidence interval 0.99-1). The performance of ICD-10 codes in correctly categorizing the ACHD defect subtype depended on the defect, with sensitivity ranging from 0 (e.g. unspecified congenital malformation of tricuspid valve) to 1 (e.g. common arterial trunk), and specificity ranging from 0.99 to 1.
CONCLUSIONS: Administrative data using ICD-10 codes is a precise tool for detecting ACHD, and may be used to establish a national cohort. Mining free-text reports in addition to coded administrative data may offset the lack of sensitivity and accuracy when describing the spectrum of congenital heart disease using ICD-10 codes.

PMID: 30612895 [PubMed - as supplied by publisher]

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Nomograms for Cardiovascular Magnetic Resonance Measurements in the Pediatric Age Group: To Define the Normal and the Expected Abnormal Values in Corrected/Palliated Congenital Heart Disease: A Systematic Review.

J Magn Reson Imaging. 2019 Jan 07;:

Authors: Voges I, Giordano R, Koestenberg M, Marchese P, Scalese M, Ait-Ali L, Santoro G, Iervasi G, Valverde I, Kutty S, Cantinotti M

Abstract
Our purpose is to provide an overview and to systematically review the strengths and limitations of studies on pediatric and adolescent normal values for cardiovascular MRI parameters. A literature search was performed within the National Library of Medicine using the following keywords: normal, reference values, cardiovascular magnetic resonance imaging, and children/pediatric. Eleven published studies evaluating cardiovascular MRI measurements in normal children were included in the present analysis. Our results revealed reasonable consistencies in the protocols employed for cardiovascular MRI. Inter- and intraobserver variability analyses were performed in most studies and generally showed acceptable reproducibility. However, several numerical and methodological limitations emerged. Besides small sample sizes (the largest study enrolled 114 subjects), data for some structures (pulmonary arteries, aortic arch) were limited, and neonates/infants were poorly represented (eg, only two studies). There was heterogeneity regarding measurement normalization (eg, for gender, age, or both), and data were mostly expressed as mean values, while z-scores (commonly used in pediatric echocardiography) were rarely employed. Theoretically, a z-score or a standard deviation of ±2 is considered pathological. Furthermore, differences among races and ethnic groups were not evaluated. In conclusion, our analyses revealed an important need for generation of pediatric and adolescent cardiovascular MRI nomograms built over a wide population of healthy children, using consistent methodologies and with consideration of potentially relevant confounders. More data on expected abnormal values in specific CHD populations (eg, univentricular hearts) also need to be defined. Level of Evidence: 2 Technical Efficacy Stage: 3 J. Magn. Reson. Imaging 2019.

PMID: 30614102 [PubMed - as supplied by publisher]

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[Analysis of Pathogens and Clinical Characteristics in 157 Cases with Infective Endocarditis].

Sichuan Da Xue Xue Bao Yi Xue Ban. 2018 Jan;49(1):136-139

Authors: Zhao FF, Lu Y, Ye H, Zhong CJ, Huang L, Lü XJ

Abstract
OBJECTIVE: To analyze the clinical characteristics of infective endocarditis (IE) in culture-positive patients,so as to provide the evidences for reasonable diagnosis and treatment of IE.
METHODS: We performed a retrospective study of 157 culture-positive IE cases,which were diagnosed according to modified Duke criteria for IE from Jan. 2008 to Aug. 2015.
RESULTS: The average age of 157 cases of IE was 40.85 years. One hundred and one patients (64.3%) had various underlying cardiac diseases,including congenital cardiovascular diseases in 44 cases and rheumatic heart diseases in 15 cases. The main clinical manifestations were anemia (147 cases,93.6%),fever(137 cases,87.3%) and heart murmur (120 cases,76.4%). Vegetation was found in 12 cases (7.6%) with transesophageal echocardiography (TEE) but not with transthoracic echocardiography (TTE) . Culture results showed the most common causative microorganisms were Streptococci (76 cases,48.4%),with Viridans streptococci dominated in 70 cases,and Staphylococci (33 cases,21.0%) (Staphylococcus aureus dominated in 18 cases). All patients were treated with antimicrobial agents. Eighty-five patients (54.1%) received surgical intervention,of which 72 cases received valve replacement. Twenty-seven patients were cured,88 patients were markedly improved,38 patients discontinued treatment,and 4 patients died. The therapeutic efficacy of operation group was better.
CONCLUSION: The clinical characteristics of IE included: the age of onset increased,congenital heart disease was the most underlying disease,and Viridians streptococci was the most popular causative microorganism. Surgical therapy can effectively improve the outcomes of IE patients.

PMID: 29737105 [PubMed - indexed for MEDLINE]

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