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.

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.

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.

Right Aortic Arch with Mirror-image Branching in Adults: Evaluation Using CT.

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.

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.

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.

Human Induced Pluripotent Stem Cells for Inherited Cardiovascular Diseases Modeling.

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 in paediatric cardiology.

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.

Computed tomography and magnetic resonance imaging in neonates with congenital cardiovascular disease.

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.

Relationship of genetic variation in the serotonin transporter gene (SLC6A4) and congenital and acquired cardiovascular diseases.

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.

Principles of pulse oximetry and its clinical application in neonatal medicine.

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.

Gingival evaluation of the pediatric cardiac patient.

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.

Can we improve the prevention and detection of congenital abnormalities? An audit of early pregnancy care in New Zealand.

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.

The American Heart Association's recent scientific statement on cardiac critical care: implications for pediatric practice.

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.