Risk of congenital cardiovascular anomalies in patients with non-syndromic orofacial cleft: A preliminary case-control study.

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.

At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.

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.

Family Communication in Inherited Cardiovascular Conditions in Ireland.

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 CT angiography in neonates and children: image quality and potential for radiation dose reduction with iterative image reconstruction techniques.

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.

Cardiac manifestations of cutaneous disorders.

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.

Sudden death in athletes.

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.

[Sudden cardiac death of rhythmic origin in athletes: literature review]. / La mort subite d'origine rythmique chez le sportif: revue de la littérature.

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.

Trigenic neural crest-restricted Smad7 over-expression results in congenital craniofacial and cardiovascular defects.

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.

Maternal smoking during pregnancy, fetal arterial resistance adaptations and cardiovascular function in childhood.

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.

Cardiac magnetic resonance: impact on diagnosis and management of patients with congenital cardiovascular disease.

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.

"What I wish you knew": Social barriers toward physical activity in youth with congenital heart disease (CHD).

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.

Management of Women With Congenital or Inherited Cardiovascular Disease From Pre-Conception Through Pregnancy and Postpartum: JACC Focus Seminar 2/5.

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.

The singular case of multiple chorangioma syndrome in an IVF pregnancy. Analysis of the case and review of literature.

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.

Plasma B-type natriuretic peptides in children with cardiovascular diseases.

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.

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.

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.

A vision for an International Society for Fetal and Perinatal Cardiovascular Disease.

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.

Sudden cardiac death in pediatrics.

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.

The prognostic value of high sensitivity cardiac troponin T in patients with congenital heart 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.