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Maternal morbidity and mortality continue to rise in the United States, with cardiovascular disease as the leading cause of maternal deaths. Congenital heart disease is now the most common cardiovascular condition encountered during pregnancy, and its prevalence will continue to grow. In tandem with these trends, maternal cardiovascular health is becoming increasingly complex. The identification of women at highest risk for cardiovascular complications is essential, and a team-based approach is recommended to optimize maternal and fetal outcomes. This document, the second of a 5-part series, will provide practical guidance from pre-conception through postpartum for cardiovascular conditions that are predominantly congenital or heritable in nature, including aortopathies, congenital heart disease, pulmonary hypertension, and valvular heart disease., Competing Interests: Funding Support and Author Disclosures Dr. Bairey Merz has served as a consultant for Abbott and Sanofi; and has served on the Board of Directors for iRhythm. Dr. Bello is supported by the National Institutes of Health/National Heart, Lung, and Blood Institute (K23 HL136853-03, R01 HL153382-01). Dr. Gomberg-Maitland has received research grant support to GWU-MFA from Acceleron, Bayer, Complexa, and United Therapeutics; and has served as a consultant for Actelion, Altavant, Acceleron, Bayer, Gilead, Insemed, Reata, and United Therapeutics. Dr. Park has served as a consultant for Abbott. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose., (Copyright © 2021 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

The redacted classification of placental lesions identifies in the group of fetal-stromal vascular lesions a subgroup called villous capillary lesions. The causes of villous capillary lesions appear to involve excessive angiogenesis. These conditions include chorangiosis, chorangiomatosis, chorangioma and a rare variant of the latter called multiple chorangioma syndrome where multiple chorangiomas, ranging from very small early precursor lesions to typical macroscopic chorangioma, occupy up to 80% of the total placental parenchyma. We present the first case of multiple chorangioma syndrome in an oncologic patient who obtained the pregnancy by egg donation, comparing the clinical case with ones available in literature. Fifteen cases have been previously published in literature but only 11 were eligible for the present review. We compared clinical characteristics and fetal outcomes with our clinical case, to highlight similarities and differences useful for a better understanding of this rare and partially unknown disease. Multiple chorangioma syndrome is a rare villous capillary lesion associated with poor fetal condition. All cases analyzed have been conceived naturally and our case is the first described in an IVF pregnancy. We believe that in our case the advanced maternal age, the method of conception and the previous chemo-therapeutic treatments might have played an important role in determining the manifestation of this rare placental condition. However, there is not appropriate literature supporting our consideration and, for future studies, it could be reasonable investigate the incidence of this condition, or even the incidence of all cluster of villous capillary lesions, in oncologic and IVF patients., Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Background: Orofacial clefts (OCs) are one of the most common craniofacial anomalies and are reported to be associated with congenital cardiovascular anomalies (CCAs). However, there is paucity of data in African populations on the risk of CCAs in OC patients compared to the general population., Aims: This study aims to determine the odds of congenital cardiovascular anomalies in patients with OC compared to the general population., Subjects and Methods: A case-control study design was used. Case subjects were non-syndromic OC subjects, while controls were non-syndromic subjects without OC. All subjects were thoroughly assessed by a pediatric cardiologist for CCAs; and grouped by OC phenotypic type (cleft lip and/or alveolus, cleft lip and palate, cleft palate only and Tessier cleft). Statistical analysis was done using STATA version 14 (College Station, Texas), and significance was placed at P value ≤0.05., Results: A total of 120 subjects (60 cases and 60 controls) were enrolled in the study. In total, 23.3% of the subjects had CCAs. Among the case group, 40% had CCAs compared to 6.7% in the control group. Patent foramen ovale (18.3%) and atrial septal defects (10.0%) were the most common type of CCAs in cases, respectively. Further, cases had significantly higher odds of CCAs compared to controls (OR: 9.3; CI: 2.8, 39.4)., Conclusions: Our finding reveals that the odds of CCAs are significantly higher in patients with OC than the general population. Future studies could assess the effect of CCAs on surgical outcome., Competing Interests: None

Advances in human genetics are improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia. However, not all cardiovascular practitioners are fully aware of the utility and potential pitfalls of incorporating genetic test results into the care of patients and their families. This statement summarizes current best practices with respect to genetic testing and its implications for the management of inherited cardiovascular diseases.

Objective: We evaluated radiological findings and clinical significance of right aortic arch with mirror-image branching (RAMI) in adults using data from computed tomography (CT) examinations., Material and Methods: We reviewed recorded reports and CT images obtained from university and branch hospitals for RAMI in adults. The RAMI incidence in adults found on CT was assessed. Associated congenital and acquired cardiovascular diseases were evaluated., Results: A total of 27 cases (14 men, 13 women; mean age, 59.4 ± 18.3 years) of RAMI were found. Among 107,014 cases in three hospitals, the RAMI incidence in the first, second, and third Tokai University hospitals were 0.018%, 0.012%, and 0.012%, respectively. Eight cases had high aortic arches and four cases had aortic diverticulum (AD) in proximal descending aorta. Three cases had a history of tetralogy of Fallot. One case with an absent left pulmonary artery and three cases with an aberrant left brachiocephalic vein were found incidentally. Two cases were associated with AD aneurysm and vascular ring formation. One case had stenosis of the left subclavian artery due to injury., Conclusion: Cases of RAMI found in CT examinations in adults were extremely rare. Some cases were associated with congenital anomalies and/or acquired cardiovascular disease.

Background: Cardiac troponin T (cTnT) is a specific marker of myocardial injury that is elevated in patients with coronary artery disease or heart failure; it has been investigated as a prognostic marker. A highly sensitive, commercially available assay has been developed to detect cardiac troponin T (hs-cTnT). This study aimed to evaluate the clinical implications and prognostic value of hs-cTnT in patients with congenital heart disease (CHD)., Methods: We evaluated 122 consecutive patients hospitalized at our institution because of heart failure or scheduled cardiac catheterization. We measured the serum concentration of hs-cTnT at the time of hospitalization, and we prospectively followed-up all patients for 3 years and monitored rates of cardiovascular events (e.g. cardiac death, readmission owing to worsening of heart failure or arrhythmia, and reintervention) as endpoints., Results: We classified the patients according to their hs-cTnT level into non-detectable (ND group, hs-cTnT <0.003ng/mL), detectable normal (DN group, 0.003ng/mL ≤hs-cTnT <0.014ng/mL), or elevated (EL group, 0.014ng/mL ≤hs-cTnT) group; 20 of 122 (16.4%) patients were in the EL group, in which 17 cardiovascular events occurred during follow-up. In the multivariate Cox proportional hazard analyses, the EL group [p=0.024, hazard ratio (HR) 2.7, 95% confidence interval (CI) 1.1-5.8] was an independent significant predictor of cardiovascular events. A Kaplan-Meier curve revealed a high incidence of cardiovascular events in the EL group (EL vs ND log rank p<0.0001, HR 7.6, 95% CI 3.2-20.0, EL vs DN log rank p<0.0001, HR 4.1, 95% CI 2.1-7.8)., Conclusions: Because the EL group is more likely to have an adverse outcome, elevated hs-cTnT level can be a prognostic marker in patients with CHD., (Copyright © 2017 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.)

In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy. This paper provides basic management and genetic evaluation principles for affected women, as well as guidance on identifying those who are at risk. We provide considerations for cardiac surveillance in pregnancy and the post-partum period. Finally, key psychosocial issues that appraise how to best provide support to at risk women as they make informed decisions are discussed. We propose that a team approach including cardiology, maternal fetal medicine, and genetic counseling best serves this patient population. Ongoing questions addressing an evidence based approach to cardiovascular genetic conditions in pregnancy still remain. Thus, well-designed research protocols are essential to mark progress in this area.

Over 100,000 individuals living in Ireland carry a mutated gene for an inherited cardiac condition (ICC), most of which demonstrate an autosomal dominant pattern of inheritance. First-degree relatives of individuals with these mutations are at a 50 % risk of being a carrier: disclosing genetic information to family members can be complex. This study explored how families living in Ireland communicate genetic information about ICCs and looked at the challenges of communicating information, factors that may affect communication and what influence this had on family relationships. Face to face interviews were conducted with nine participants using an approved topic guide and results analysed using thematic analysis. The participants disclosed that responsibility to future generations, gender, proximity and lack of contact all played a role in family communication. The media was cited as a source of information about genetic information and knowledge of genetic information tended to have a positive effect on families. Results from this study indicate that individuals are willing to inform family members, particularly when there are children and grandchildren at risk, and different strategies are utilised. Furthermore, understanding of genetics is partially regulated not only by their families, but by the way society handles information. Therefore, genetic health professionals should take into account the familial influence on individuals and their decision to attend genetic services, and also that of the media.

Cardiovascular cells derived from patient specific induced Pluripotent Stem Cell (iPSC) harbor gene mutations associated with the pathogenesis of inherited cardiac diseases and congenital heart diseases (CHD). Numerous reports have demonstrated the utilization of human induced Pluripotent Stem Cell (hiPSC) to model cardiac diseases as a means of investigating their underlying mechanisms. So far, they have been shown to investigate the molecular mechanisms of many cardiac disorders, such as long-QT syndrome (LQT), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), LEOPARD syndrome (LS), arrhythmogenic cardiomyopathy (ACM), Friedreich ataxia (FRDA), Barth syndrome (BTHS), hypoplastic left heart syndrome (HLHS), Marfan syndrome (MFS) and other CHD. This article summarizes the growing body of research related to modeling various cardiac diseases using hiPSCs. Moreover, by reviewing the methods used in previous studies, we propose multiple novel applications of hiPSCs to investigate comprehensive cardiovascular disorders and facilitate drug discovery.

Stress echocardiography is a well-established technique in adult cardiology and is mainly used for assessing regional myocardial function in patients with known or suspected coronary artery disease (CAD). Apart from detecting ischaemia, stress echocardiography has found its place in the assessment of the haemodynamic significance of valve disease, particularly in selected patients with aortic stenosis and mitral regurgitation. Also in the paediatric population, stress imaging is most commonly used for the detection of ischaemia in patients with CADs such as post heart transplantation, Kawasaki Disease, and abnormal origin of coronary arteries. Other paediatric indications include the haemodynamic and myocardial response in patients with different types of congenital heart disease, the early detection of myocardial dysfunction in specific populations such as patients after anthracycline exposure, and the evaluation of pulmonary artery pressures and the right ventricular functional response. Techniques have evolved over time and in different paediatric echocardiographic laboratories, exercise stress echocardiography is replacing dobutamine stress echocardiography in older children. Moreover, integrating tissue Doppler and strain technology with stress imaging allows a more quantitative analysis of regional and global systolic and diastolic function. Current clinical applications mainly include patients after transplant, suspected CAD, and hypertrophic cardiomyopathy., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.)

Pulse oximetry is one of the most commonly used monitoring devices in clinical medicine. It was first introduced to neonatal medicine in the mid-1980s to monitor oxygenation and guide therapy, and it is now used widely in the delivery room during resuscitation. More recently, it is utilized to screen for congenital heart disease. Pulse oximetry is based on the variation in the ratio of the light absorbances of tissues during systole and diastole. It has become the mainstay of non-invasive continuous oxygen monitoring but with a wide variation in clinical practices and without good research evidence. This article provides a brief historical overview of pulse oximetry development, its principles, advantages and limitations, and the clinical applications in neonatal medicine., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Most cardiac diseases in the newborn are caused by structural abnormalities developed in utero. With few exceptions, palliative and definitive treatments require cardiac surgery. The diagnosis and management decisions regarding uncomplicated lesions, such as atrial septal defect, ventricular septal defect, patent ductus arteriosus, and tetralogy of Fallot, can be accomplished by echocardiography alone. Abnormalities beyond the sonographic window, complex 3-dimensional lesions, and detailed functional information require additional imaging. In the past, this was fulfilled by catheter angiography, but today much of the information can be obtained from noninvasive computed tomography angiography and magnetic resonance imaging. This article discusses the design and application of these imaging techniques to the newborn, with emphasis on safety, efficacy, and image quality. Understanding the capabilities and limitations of these techniques is crucial for making rational choices among imaging options based on sound risk and benefit considerations. Important examples of congenital heart lesions have been illustrated with 3-dimensional reconstruction from computed tomography and magnetic resonance images., (Copyright © 2015. Published by Elsevier Inc.)

Recent reports have suggested an association between variation in the serotonin transporter and primary pulmonary hypertension and myocardial infarction. We set out to determine whether these associations were present in a population of patients who underwent SLC6A4 genotyping and to explore whether genetic variation in the serotonin transporter might be also associated with other cardiovascular functional and structural abnormalities. Included were 3473 patients who were genotyped for the SLC6A4 5HTTLPR polymorphism and a subset for rs25531 (n=816) and STin2 (n=819). An association was observed between 5HTTLPR and primary pulmonary hypertension (p=0.0130), anomalies of the cerebrovascular system (p<0.0001), and other anomalies of great veins (p=0.0359). The combined 5HTTLPR and rs25531 genotype was associated with tachycardia (p=0.0123). There was an association of the STin2 genotype with abnormal electrocardiogram (ECG) (p=0.0366) and abnormal cardiac study (0.0311). Overall, these results represent a step toward the understanding of the impact of SLC6A4 variation on cardiovascular pathology.

Purpose: Children with congenital cardiovascular diseases (CCDs) who suffer from dental diseases have an increased risk of infective endocarditis. In the light of recent evidence, oral inflammatory diseases may also increase the severity of their cardiovascular condition. The purpose of this study was to evaluate the gingival status of children with congenital cardiovascular diseases in comparison to healthy children., Methods: Fifty 7- to 13-year-old children were included. The test group comprised 25 CCD children subdivided into three groups: (1) unrepaired ventricular septal defect; (2) aortic valve stenosis; and (3) coarctation of the aorta. The control group consisted of 25 healthy age- and gender-matched children. Gingivitis, plaque, calculus, and recession were measured on six sites per tooth on 12 teeth., Results: CCD children had significantly more gingivitis (P<.001), plaque (P<.001), recession (P>.02), and calculus (P<.001) than controls. Among the CCDs groups, no statistically significant differences were found for gingivitis, plaque, or recession., Conclusions: Children with congenital cardiovascular diseases had a higher prevalence of periodontal disease, evidenced by gingivitis, plaque, calculus, and recession. These children should be evaluated periodontally and their oral health monitored on a 3-month basis to prevent disease development, benefit cardiovascular condition, prevent endocarditis, and improve quality and longevity of life.

Aim: To determine whether there were "quality gaps" in the provision of care during pregnancies that resulted in a perinatal death due to congenital abnormality., Method: Perinatal deaths from congenital cardiovascular, central nervous system or chromosomal abnormality in 2010 were identified retrospectively. Data were extracted by retrospective clinical note review and obtained by independent review of ultrasound scans., Results: There were 137 perinatal deaths due to a congenital cardiovascular (35), central nervous system (29) or chromosomal abnormality (73). First contact with a health professional during pregnancy was predominantly with a general practitioner. First contact occurred within 14 weeks in 85% of pregnancies and there was often a significant delay before booking. Folate supplements were taken by 7% pre-conceptually and 54% of women in the antenatal period. There were 20 perinatal deaths from neural tube defects that could potentially have been prevented through the use of pre-conceptual folate. Antenatal screening was offered to 75% of the women who presented prior to 20 weeks and 84% of these undertook at least one of the available antenatal screening tests. Review of ultrasound images found five abnormalities could have been detected earlier., Conclusion: Delay in booking or failure to offer screening early were the most common reasons for delay in diagnosis of screen detectable abnormalities. The preventative value and timing of (pre-conceptual) folate needs emphasis.

Objectives: To evaluate image quality (IQ) of low-radiation-dose paediatric cardiovascular CT angiography (CTA), comparing iterative reconstruction in image space (IRIS) and sinogram-affirmed iterative reconstruction (SAFIRE) with filtered back-projection (FBP) and estimate the potential for further dose reductions., Methods: Forty neonates and children underwent low radiation CTA with or without ECG synchronisation. Data were reconstructed with FBP, IRIS and SAFIRE. For ECG-synchronised studies, half-dose image acquisitions were simulated. Signal noise was measured and IQ graded. Effective dose (ED) was estimated., Results: Mean absolute and relative image noise with IRIS and full-dose SAFIRE was lower than with FBP (P < 0.001), while SNR and CNR were higher (P < 0.001). Image noise was also lower and SNR and CNR higher in half-dose SAFIRE studies compared with full-and half-dose FBP studies (P < 0.001). IQ scores were higher for IRIS, full-dose SAFIRE and half-dose SAFIRE than for full-dose FBP and higher for half-dose SAFIRE than for half-dose FBP (P < 0.05). Median weight-specific ED was 0.3 mSv without and 1.36 mSv with ECG synchronisation. The estimated ED of half-dose SAFIRE studies was 0.68 mSv., Conclusions: IR improves image noise, SNR, CNR and subjective IQ compared with FBP in low-radiation-dose paediatric CTA and allows further dose reductions without compromising diagnostic IQ., Key Points: • Iterative reconstruction techniques significantly improve non-invasive cardiovascular CT in children. • Using half traditional radiation dose image quality is higher with iterative reconstruction. • Iterative reconstruction techniques may allow further radiation reductions in paediatric cardiovascular CT.

A writing group sponsored by the Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation, the Council on Clinical Cardiology, the Council on Cardiovascular Nursing, and the Council on Quality of Care and Outcomes Research of The American Heart Association has recently formulated a roadmap to meet the changing needs of the patient with cardiovascular disease requiring critical care. Although this roadmap has been formulated primarily to address the care needs of the adult with critical cardiovascular disease, it contains useful lessons pertinent to the care of the patient with pediatric and congenital cardiovascular disease. In this document, we have examined The Statement and applied its framework to the evolving field of pediatric cardiac critical care., (© 2012 Wiley Periodicals, Inc.)

A number of cutaneous disorders encountered by the dermatologist have overlapping cardiac pathology. In recent years, many genetic linkages common to pathological processes in the cutaneous and cardiovascular systems have been identified. This review will describe primary cutaneous disorders with potential cardiac manifestations, including congenital syndromes, inherited cutaneous disorders associated with later cardiovascular disease, and syndromes associated with early cardiovascular pathology. The dermatologist may be the first to diagnose cutaneous findings associated with underlying cardiovascular disease; therefore, it is of prime importance for the dermatologist to be aware of these associations and to direct the appropriate workup., (Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.)

Sudden cardiac death in an athlete is a rare and heartrending event, often occurring in the absence of warning symptoms. The causes of sudden cardiac death in athletes are age dependent and demonstrate a degree of geographical variation. Pre-participation screening is recommended by both the European Society of Cardiology and the American Heart Association although there is no consensus regarding the utilisation of an electrocardiogram. This article will review the aetiology of sudden cardiac death and will present the evidence for pre-participation screening.

The sudden death in athletes is, in the vast majority of cases, related to ventricular fibrillation, often in a subject with unknown cardiovascular abnormality; this dramatic event has a significant impact on society and the medical profession. We conducted through a literature review an analysis of data on sudden cardiac death of rhythmic origin in athletes; sudden death may be cardiovascular in 95.3% of cases and related to ventricular arrhythmia in 88% cases. The main causes are: hypertrophic cardiomyopathy, congenital anomalies of coronary arteries, and arhythmogenic right ventricular dysplasia for athletes under 35 years, and atherosclerosis beyond 35 years. Prevention is based on three main areas: the medical assessment and screening for cardiovascular disease; the chain of survival; the education of the athlete and the public. All these measures should improve significantly the survival prognosis of patients suffering from these accidents.

Background: Spectral analysis of fetal heart rate (FHR) variability is a useful method to assess fetal condition. There have been several studies involving the change in spectral power related to fetal acidemia, but the results have been inconsistent., Aims: To determine the change in spectral power related to fetal umbilical arterial pH at birth, dividing cases into preterm (31-36 weeks) and term (≥37 weeks) gestations., Study Design: Case-control study. The 514 cases of deliveries were divided into a low-pH group (an umbilical arterial pH <7.2) and a control group (pH≥7.2)., Subjects: FHR recorded on cardiotocography during the last 2h of labor., Outcome Measures: The spectral powers in various bands of FHR variability., Results: In preterm fetuses, the total, low (LF), and movement (MF) frequency spectral powers and LF/HF ratio were significantly lower in the low-pH group than the control group (all P<0.05). In contrast, in term fetuses, the total frequency, LF, and MF powers were significantly higher in the low-pH group than the control group (all P<0.05). The area under the receiver operating characteristic of LF power to detect a low pH at birth was 0.794 in preterm fetuses and 0.595 in term fetuses. The specificity was 86.8% and 93.3% in preterm and term fetuses, respectively., Conclusions: The changes in spectral power responding to a low pH are different between term and preterm fetuses. Spectral analysis of FHR variability may be useful fetal monitoring for early detection of fetal acidemia., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Congenital thoracic vascular anomalies include embryologic developmental disorders of the thoracic aorta, aortic arch branch arteries, pulmonary arteries, thoracic systemic veins, and pulmonary veins. Diagnostic evaluation of these anomalies in pediatric patients has evolved with innovations in diagnostic imaging technology. State-of-the-art magnetic resonance (MR) imaging, MR angiography multidetector-row computed tomographic (MDCT) angiography, and advanced postprocessing visualization techniques offer accurate and reliable high-resolution two-dimensional and three-dimensional noninvasive anatomic displays for interpretation and clinical management of congenital thoracic vascular anomalies. This article reviews vascular MR imaging, MR angiography, MDCT angiography, and advanced visualization techniques and applications for the assessment of congenital thoracic vascular anomalies, emphasizing clinical embryology and the characteristic imaging findings., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Aim: To estimate the clinical impact of cardiac magnetic resonance (CMR) in patients with congenital cardiovascular disease (CCD)., Materials and Methods: Since 2003, 1.5T CMR was used at our university hospital to evaluate morphology, cardiac kinetics, aortic and pulmonary flow, and vascular anatomy in patients with CCD. The present study considered a consecutive series of these patients from 2003 to 2006. A paediatric cardiologist judged our reports as expected or unexpected and, secondarily, as not reliable (level 0), describing findings already known (level 1), not changing therapy/suggested lifestyle (level 2), changing therapy/suggested lifestyle (level 3) or changing diagnosis (level 4)., Results: CMR reports were judged to be expected in 187/214 (87%) and unexpected in 27/214 (13%). Less than 2% of CMRs were judged as levels 0 or 1, 66% as level 2, and 5% as level 4. During 2005-2006 the clinical impact improved toward higher impact levels (p<0.001, chi-square test)., Conclusions: In patients with CCD, more than one in 10 CMR reports were unexpected to cardiologists and over seven in 10 prompted a change of diagnosis or therapy., (Copyright © 2011 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.)

Objective: To unravel the mechanisms underlying the previously demonstrated associations between low birthweight and cardiovascular disease in adulthood, we examined whether maternal smoking during pregnancy leads to fetal arterial resistance adaptations, and subsequently to fetal growth retardation and changes in postnatal blood pressure and cardiac development., Design: Prospective cohort study from early fetal life onwards., Setting: Academic hospital., Population: Analyses were based on 1120 children aged 2 years., Methods: Maternal smoking during pregnancy [non-smoking, first trimester smoking, continued smoking (< 5 and ≥ 5 cigarettes/day)] was assessed by questionnaire., Main Outcome Measures: Third trimester placental and fetal arterial resistance indices and fetal growth were assessed by ultrasound and Doppler measurements. Postnatal blood pressure and cardiac structures (aortic root diameter, left atrial diameter, left ventricular mass) were measured at 2 years of age., Results: First trimester smoking was not associated with third trimester placental and fetal blood flow adaptations. Continued smoking of ≥ 5 cigarettes/day was associated with an increased resistance in uterine, umbilical and middle cerebral arteries, and with a decreased flow and diameter of the ascending aorta. Among mothers who continued to smoke, the third trimester estimated fetal weights and birthweights were most affected in children with the highest umbilical artery resistance. Fetal arterial resistance indices were also associated with aortic root diameter and left atrial diameter., Conclusions: Fetal arterial resistance adaptations may be involved in the pathways leading from maternal smoking during pregnancy to low birthweight and cardiovascular developmental changes in childhood in the offspring., (© 2011 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2011 RCOG.)

Despite the benefits of physical activity for youth with congenital heart disease (CHD), most patients are inactive. Although literature has addressed medical and psychological barriers to participation, little is known about the social barriers that youth encounter. This qualitative study explored sociocultural barriers to physical activity from the perspective of 17 youth with CHD. The main theme, "what I wish you knew," was related to all other themes-youths' efforts to resolve "disclosure dilemmas," the barriers they encounter during physical education, and their struggle to understand themselves as normal. The participants' narratives illuminate the centrality of their sociocultural world to physical activity. The findings call on researchers and educators to attend to the social and cultural environments where these youth live and play.

Natriuretic peptides (NP) are released from the heart in response to pressure and volume overload. The biologic properties of NPs include counterregulation of the rennin-angiotensin-aldosterone pathway and a decrease in sympathetic tone resulting in diuresis, natriuresis, and vasodilation. Natriuretic peptides help to maintain fluid balance and blood pressure in a healthy physiologic range. The B-type natriuretic peptide (BNP) and its N-terminal precursor (NTpBNP) have become important diagnostic biomarkers of cardiovascular diseases (CVDs) in adults. Although many studies suggest that BNP also is a reliable test for diagnosing significant CVDs in children, data are lacking on whether additional use of BNP increases diagnostic accuracy and predicts prognosis. This comprehensive review describes the utility of BNP and NTpBNP for various CVDs of the neonatal and pediatric age groups. Because BNP is not a stand-alone test, it should not replace history, physical examination, or clinical judgment, but it has a clear value in adding details to the whole story for children, thus enabling the front-line physicians to make a diagnosis, especially in the acute care setting.

Continuous, reliable and real-time assessment of major determinants of cardiovascular function in preterm and term neonates has long been an elusive aim in neonatal medicine. Accordingly, aside from continuous assessment of heart rate, blood pressure and arterial oxygen saturation, bedside monitoring of major determinants of cardiovascular function of significant clinical relevance such as cardiac output, systemic vascular resistance, organ blood flow distribution and tissue oxygen delivery and coupling has only recently become available. Without obtaining reliable information on the changes in and interactions among these parameters in the neonatal patient population during postnatal transition and later in the neonatal period, development of effective and less harmful treatment approaches to cardiovascular compromise is not possible. This paper briefly reviews the recent advances in our understanding of developmental cardiovascular physiology and discusses the methods of bedside assessment of cardiovascular function in general and organ perfusion, tissue oxygen delivery and brain function in particular in preterm and term neonates. The importance of real-time data collection and the need for meticulous validation of the methods recently introduced in the assessment of neonatal cardiovascular function such as echocardiography, electrical impedance cardiometry, near infrared spectroscopy, visible light and laser-Doppler technology are emphasized. A clear understanding of the accuracy, feasibility, reliability and limitations of these methods through thorough validation will result in the most appropriate usage of these methods in clinical research and patient care.

Smad7 is a negative regulator of TGFbeta superfamily signaling. Using a three-component triple transgenic system, expression of the inhibitory Smad7 was induced via doxycycline within the NCC lineages at pre- and post-migratory stages. Consistent with its role in negatively regulating both TGFbeta and BMP signaling in vitro, induction of Smad7 within the NCC significantly suppressed phosphorylation levels of both Smad1/5/8 and Smad2/3 in vivo, resulting in subsequent loss of NCC-derived craniofacial, pharyngeal and cardiac OFT cushion cells. At the cellular level, increased cell death was observed in pharyngeal arches. However, cell proliferation and NCC-derived smooth muscle differentiation were unaltered. NCC lineage mapping demonstrated that cardiac NCC emigration and initial migration were not affected, but subsequent colonization of the OFT was significantly reduced. Induction of Smad7 in post-migratory NCC resulted in interventricular septal chamber septation defects, suggesting that TGFbeta superfamily signaling is also essential for cardiac NCC at post-migratory stages to govern normal cardiac development. Taken together, the data illustrate that tightly regulated TGFbeta superfamily signaling plays an essential role during craniofacial and cardiac NCC colonization and cell survival in vivo., (Copyright (c) 2010 Elsevier Inc. All rights reserved.)

Purpose of Review: The purpose of this review is to explain why it is now time to create an International Society for Fetal and Perinatal Cardiovascular Disease., Recent Findings: Rapid advances in four domains that involve the professionals caring for patients with congenital cardiac disease all point to the fact that it is now time to create an International Society for Fetal and Perinatal Cardiovascular Disease: fetal diagnosis - the improved ability to diagnose prenatal cardiovascular disease due to education and improved ultrasound technology; subspecialization--the development of perinatal cardiology as a true subspecialty of the professions of pediatric cardiology and perinatology; analysis of outcomes--the multidisciplinary international efforts in the areas of nomenclature and databases for the analysis of outcomes of treatments for patients with congenitally malformed hearts, efforts that span traditional geographic and subspecialty boundaries; globalization - the rapidly evolving global organization of professionals caring for patients with congenital heart disease., Summary: Healthcare professionals caring for the pregnant woman and fetus with congenital cardiac disease would be enthusiastic about the creation of an International Society for Fetal and Perinatal Cardiovascular Disease in order to achieve multiple objectives: to discuss the management of prenatal and perinatal cardiovascular disease (not exclusively cardiac malformations); to benefit from educational programs covering prenatal and perinatal physiology and pathophysiology, clinical and technical topics, as well as genetic, ethical, and psychosocial aspects of this relatively new discipline; and finally to share our basic science, translational, and clinical research interests.

Purpose of Review: Sudden cardiac death (SCD) is a rare but tragic event in children. This review highlights the important advances in this field during the last year, both in the understanding of the underlying diseases and in improvements in the management of patients at risk for SCD., Recent Findings: The study of SCD has focused on several major themes: progress in understanding the causes and treatments of genetic cardiovascular diseases, improved management of patients with congenital heart disease with SCD risk, treatment strategies for SCD risk reduction in patients with cardiomyopathies, and defining guidelines for athletic preparticipation screening., Summary: With advances in understanding of the causes and risk factors for SCD, management of children at risk for SCD continues to improve. This includes improved clinical criteria for identifying SCD risk as well as optimizing management strategies such as exercise restriction, antiarrhythmic medications, and implantable cardioverter defibrillator therapy.

Turner syndrome (TS) is a relatively common disorder of female development caused by loss of all or part of one sex chromosome. Because short stature and premature ovarian failure are cardinal features of the syndrome, pediatric endocrinologists have taken the lead in care for these girls. Congenital cardiovascular disease affects approximately 50% of individuals and is the major cause of premature mortality in adults. Unfortunately, teenage girls are often lost to follow up after discharge from pediatric clinic. This review describes the spectrum of cardiovascular defects in TS with emphasis on identifying patients at risk for aortic dissection/rupture. Updated consensus guidelines for cardiac screening and care are reviewed and genetic pathways implicated in Turner cardiovascular disease, including premature coronary artery disease, are discussed. This material is of particular importance because cardiac care for adults with TS appears seriously deficient at present.

Cardiac disorders complicate less than 1% of all pregnancies. Physiologic changes in pregnancy may mimic heart disease. In order to differentiate these adaptations from pathologic conditions, an in-depth knowledge of cardiovascular physiology is mandatory. A comprehensive history, physical examination, electrocardiogram, chest radiograph, and echocardiogram are sufficient in most cases to confirm the diagnosis. Care of women with cardiac disease begins with preconception counseling. Severe lesions should be taken care of prior to contemplating pregnancy. Management principles for pregnant women are similar to those for the non-pregnant state. A team approach comprised of a maternal fetal medicine specialist, cardiologist, neonatologist, and anesthesiologist is essential to assure optimal outcome for both the mother and the fetus. Although fetal heart disease complicates only a small percentage of pregnancies, congenital heart disease causes more neonatal morbidity and mortality than any other congenital malformation. Unfortunately, screening approaches for fetal heart disease continue to miss a large percentage of cases. This weakness in fetal screening has important clinical implications, because the prenatal detection and diagnosis of congenital heart disease may improve the outcome for many of these fetal patients. In fact, simply the detection of major heart disease prenatally can improve neonatal outcome by avoiding discharge to home of neonates with ductal-dependent congenital heart disease. Fortunately, recent advances in screening techniques, an increased ability to change the prenatal natural history of many forms of fetal heart disease, and an increasing recognition of the importance of a multidisciplinary, team approach to the management of pregnancies complicated with fetal heart disease, together promise to improve the outcome of the fetus with congenital heart disease.

Velocardiofacial syndrome (VCFS) is characterized by both physical manifestations and neuropsychiatric disabilities. About 6-28% of cases are familial. The aim of the present study was to compare the clinical characteristics of subjects with familial and nonfamilial VCFS, with a special focus on cognitive and psychiatric disabilities. In addition, the complexities of coping with the disease in families in which both a parent and children are affected were highlighted in case vignettes. Sixteen patients from six families with VCFS were compared to 63 subjects with nonfamilial VCFS for physical parameters, IQ, and rate of major psychiatric disorders. After controlling for the effect of age, IQ was significantly lower in the familial compared to the nonfamilial group of VCFS patients. Rate of psychiatric disorders was similarly high in both groups. The familial group had fewer cardiac and palate anomalies. A significant negative correlation was found between IQ and age. Most of the adults with familial VCFS were neuropsychiatrically disabled. Thus, although familial VCFS seems to be associated with a milder physical phenotype than nonfamilial VCFS, the neuropsychiatric deficits are significant in both types, at all ages.

The clinical role of magnetic resonance in diseases of the heart and great vessels is rapidly evolving. Cardiovascular magnetic resonance (CMR) has become an established non-invasive imaging modality for the assessment of various cardiac disorders, such as congenital heart disease, cardiac masses, cardiomyopathies, aortic and pericardial diseases. Moreover, due to its accuracy and reproducibility, CMR is currently considered the gold standard for quantification of ventricular volumes, function, and mass. Thus, this technique is ideally suited to assess the efficacy of therapeutic interventions on ventricular hypertrophy and remodelling, which may allow a reduction in sample size to show clinically relevant effects. Comprehensive functional assessment is possible by CMR due to its capability to measure flow velocity and flow volume, which is a basic requirement to quantify lesion severity in valvular heart disease. Within the past years, major technical advances have considerably improved acquisition speed and image quality making CMR a useful tool for the evaluation of patients with ischaemic heart disease. Although the clinical robustness of coronary magnetic resonance angiography still needs improvement, CMR currently provides valuable information to detect reversible ischemia, myocardial infarction, and residual viability. In this review we will present in detail the well-established indications of CMR accompanied by an outlook on new applications that are likely to enter the clinical arena in the near future.

Background: The lysyl oxidases are extracellular copper enzymes that initiate the crosslinking of collagens and elastin, 5 human isoenzymes having been characterized so far. The crosslinks formed provide the tensile strength and elastic properties for various extracellular matrices, including vascular walls. We studied the role of the first described isoenzyme Lox by inactivating its gene in mice., Methods and Results: Murine Lox gene was disrupted by routine methods. Lox(-/-) mice died at the end of gestation or as neonates, necropsy of the live-born pups revealing large aortic aneurysms. In light microscopy, hazy and unruffled elastic lamellae in the Lox(-/-) aortas were observed, and electron microscopy of the aortic walls of the Lox(-/-) fetuses showed highly fragmented elastic fibers and discontinuity in the smooth muscle cell layers in Lox(-/-) fetuses. The wall of the aorta in the Lox(-/-) fetuses was significantly thicker, and the diameter of the aortic lumen was significantly smaller than that in the Lox(+/+) aortas. In Lox(-/-) fetuses, Doppler ultrasonography revealed increased impedance in the umbilical artery, descending aorta, and intracranial artery blood velocity waveforms, decreased mean velocities across cardiac inflow and outflow regions, and increased pulsatility in ductus venosus blood velocity waveforms., Conclusions: Lox has an essential role in the development and function of the cardiovascular system. Inactivation of the Lox gene causes structural alterations in the arterial walls, leading to abnormalities in the cardiovascular functions. Alterations in LOX activity may also play a critical role in certain human cardiovascular diseases.

Cardiac manifestations of HIV infection in children are common, but etiologies, contributing factors, and the natural history are largely unexplored. The Pediatric Pulmonary and Cardiovascular Complications of Vertically Transmitted Human Immunodeficiency Virus Infection Study (P2C2 HIV Study) was initiated in 1989 by the National Heart, Lung and Blood Institute, USA. A primary objective of this study is to examine the epidemiology of cardiovascular problems associated with HIV infection in a cohort of children vertically infected. Findings of the study thus far show that cardiovascular problems associated with HIV infection including left ventricular dysfunction and increased left ventricular mass are common and clinically important indicators of survival for children infected with HIV.

The administration of inhaled NO in the management of pulmonary hypertension and respiratory failure is an important development in pediatric critical care. The long-term effects of this therapy are yet to be understood. An appreciation for the potential hazards and the development of accurate and safe delivery systems are paramount to the successful application of this new therapy.

Interventional radiologic techniques have been applied to the management of congenital cardiovascular abnormalities. Transcatheter embolization is now the procedure of choice in the treatment of pulmonary arteriovenous malformations. Transluminal angioplasty has been successfully employed in the management of patients with congenital pulmonary and aortic valvular stenosis and may also be the treatment of choice for postoperative restenosis of coarctation of the aorta.