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Patients with the Fontan operation have a unique circulation, with a limited ability to increase cardiac output, and high central venous pressure. They may have diastolic and/or systolic ventricular dysfunction, arrhythmias, thromboembolic complications, or multiorgan dysfunction. All of these factors contribute to reproductive issues, including menstrual irregularities, infertility, recurrent miscarriage, and complications during pregnancy. Although atrial arrhythmias are the most common cardiac complications during pregnancy, patients can develop heart failure and thromboembolic events. Obstetric bleeding, including postpartum hemorrhage, is common. In addition to maternal complications, adverse fetal and neonatal events, such as prematurity and low birthweight, are very common. Counselling about these reproductive issues should begin early. For those who become pregnant, care should be provided by a multidisciplinary cardio-obstetric team familiar with the specific issues and needs of the Fontan population. In this review, we discuss infertility, contraception, and pregnancy in patients with the Fontan operation.

One of the most common fetal complications in pregnant women with cardiovascular disease is a small for gestational age (SGA) neonate, which is associated with a higher risk of perinatal morbidity/mortality and poor long-term health outcomes. The objective of this study was to identify cardiac determinants and derive a risk score for clinically relevant SGA5th percentile (SGA-5th).A prospective cohort of 1812 pregnancies in women with heart disease were studied. SGA-5th was the outcome of interest, defined as birth weight5th percentile for gestational age and sex. Multivariable logistic regression analysis was used to identify predictors for SGA-5th. Based on the regression coefficients, a weighted risk score was created.SGA-5th complicated 10% of pregnancies, 11 predictors of SGA-5th were identified, and each was assigned a weighted score: maternal cyanosis (8), Fontan palliation (7), smoking (3), moderate or severe valvular regurgitation (3), β-blocker use throughout pregnancy (4) or only in the 2nd and 3rd trimesters (2), high baseline β-blocker dose (4), body mass index18.5 kg/mThere are a number of cardiac predictors that are associated with increased risk of SGA-5th. This is a prognostically important outcome, and consideration should be given to routinely predicting and modifying the risk whenever possible.

In women with mitral stenosis (MS), mitral valve gradients and right ventricular systolic pressure (RVSP) can increase in response to the physiologic stress of pregnancy. The prognostic significance of these echocardiographic changes has not been well studied. Pregnancy outcomes and serial echocardiograms were collected in women with MS prospectively recruited as part of a larger study on pregnancy outcomes. Third trimester echocardiograms were compared with baseline echocardiograms. Changes in mitral valve area (MVA), transmitral mean gradient (MG), and RVSP during pregnancy and their relationship to adverse cardiac events (CE) were examined. Fifty-six pregnancies in 47 women with MS were included. The MVA did not change during pregnancy (1.6 ± 0.6 cm2 at baseline vs 1.7 ± 0.6 cm2 in the third trimester, p = 0.46). There was an increase in the MG (8 ± 3 vs 11 ± 6 mm Hg, p 10 mm Hg, baseline RVSP >40 mm Hg, third-trimester MG>10 mm Hg, and RVSP >40 mm Hg. Women with mitral valve MG ≤10 mm Hg who had a normal RVSP at baseline and in the third trimester were at lowest risk for CE (11%) with a negative predictive value of 89%. In conclusion, baseline echocardiographic assessment of MS severity as well as changing echocardiographic parameters during pregnancy can help identify women at risk for cardiac complications during pregnancy.

Aims While heart failure (HF) is a leading cause of death in adults with congenital heart disease (ACHD), few studies report contemporary outcomes after the first HF hospitalization. We examined outcomes of ACHD patients newly admitted for HF compared with ACHD patients without HF and the general HF population without ACHD. Methods and results Using population databases from a single‐payer health system from 1994 to 2018, ACHD patients newly admitted for HF were matched 1:1 to ACHD patients without HF (n = 4030 matched pairs). Similarly, ACHD patients newly admitted for HF were matched 1:1 to HF patients without ACHD (n = 4336 matched pairs). Patients with ACHD and HF (median age 68 years, 45% women) experienced higher mortality in short‐term [30 day adjusted hazard ratio (HR) 4.68, 95% confidence interval (CI) 4.06, 5.43, P

Background: Implantable cardioverter defibrillators (ICDs) are effective in preventing arrhythmic sudden cardiac death in patients with tetralogy of Fallot (TOF). Although ICD therapies for malignant ventricular arrhythmias can be life-saving, shocks could have deleterious consequences. Substrate-based ablation therapy has become the standard of care to prevent recurrent ICD shocks in patients with ischemic cardiomyopathy. However, the efficacy and safety of this invasive therapy in the prevention of recurrent ICD shocks in patients with TOF has not been well evaluated. Methods: Records of a total of 47 consecutive TOF patients (mean age: 43.1 ± 13.2 years, male sex: n = 34 [72.3%]) who underwent ICD implantation for secondary prevention between 2000 and 2018 were reviewed. Results: Twenty (42.6%) patients underwent invasive therapy (radiofrequency catheter ablation, n = 8; surgical ablation with pulmonary valve replacement, n = 12) before ICD implantation. Twenty-seven patients (57.4%) were managed noninvasively. During follow-up (median 80.5 [interquartile range, 28.5-131.0] months), 2 (10.0%) patients in the invasive group and 10 (37.0%) patients in the noninvasive group received appropriate ICD shocks (P = 0.036). Logistic regression analysis showed that invasive therapy was associated with a decreased risk of ICD shocks by 81.1% (odds ratio, 0.189; 95% confidence interval, 0.036-0.990; P = 0.049). Furthermore, invasive therapy was associated with decreased risk of the composite outcomes of ICD shock, death, cardiac transplantation, and hospital admission (odds ratio, 0.090; 95% confidence interval, 0.025-0.365; P = 0.013) compared with noninvasive therapy. Conclusions: Invasive substrate modification therapy was associated with a lower likelihood of ICD shocks and improvement of long-term outcomes in TOF patients. Résumé: Contexte: Les défibrillateurs cardioverteurs implantables (DCI) sont efficaces pour prévenir la mort cardiaque subite provoquée par une arythmie chez les patients présentant une tétralogie de Fallot (TF). Bien que le traitement des arythmies ventriculaires malignes par DCI puisse sauver des vies, les chocs administrés peuvent avoir des conséquences délétères. L’ablation du substrat est devenue le traitement de référence pour prévenir l’administration à répétition de chocs par DCI chez les patients atteints d’une cardiomyopathie ischémique. L’efficacité et l’innocuité de ce traitement invasif pour prévenir l’administration de chocs répétés chez les patients présentant une TF n’ont toutefois pas été bien évaluées. Méthodologie: Nous avons examiné les cas consécutifs de 47 patients présentant une TF (âge moyen : 43,1 ± 13,2 ans; hommes : n = 34 [72,3 %]) ayant reçu un DCI en prévention secondaire entre 2000 et 2018. Résultats: Au total, 20 (42,6 %) patients ont subi un traitement invasif (ablation par cathéter par radiofréquence, n = 8; ablation chirurgicale et remplacement de la valve pulmonaire, n = 12) avant l’implantation d’un DCI. Vingt-sept patients (57,4 %) ont été pris en charge de façon non invasive. Au cours de la période de suivi (durée médiane de 80,5 [intervalle interquartile : 28,5 à 131,0] mois), 2 (10,0 %) patients du groupe ayant subi une intervention invasive et 10 (37,0 %) patients du groupe ayant subi une intervention non invasive ont reçu un choc approprié par DCI (p = 0,036). Les résultats de l’analyse par régression logistique montrent que le traitement invasif est associé à une réduction du risque de choc par DCI de 81,1 % (rapport des cotes : 0,189; intervalle de confiance à 95 % : de 0,036 à 0,990; p = 0,049). En outre, le traitement invasif est associé à une réduction du risque de survenue d’un des événements du paramètre d’évaluation composé, soit un choc administré par DCI, le décès, une transplantation cardiaque ou une hospitalisation (rapport des cotes : 0,090; intervalle de confiance à 95 % : de 0,025 à 0,365; p = 0,013) par rapport au traitement non invasif. Conclusions: La modification invasive du substrat a été associée à une probabilité plus faible de choc administré par DCI et à une amélioration des résultats à long terme chez les patients présentant une TF.

Although pregnancy outcomes in women with normally functioning bioprosthetic valves (BPVs) are often good, structural valve dysfunction (SVD) may adversely affect pregnancy outcomes, but this has not been studied.The aim of this study was to examine outcomes in pregnant women with BPVs and the association with SVD.Pregnancy outcomes in women with BPVs were prospectively collected. Adverse maternal cardiac events (CEs) included cardiac death or arrest, sustained arrhythmia, heart failure, thromboembolism, and stroke. Adverse fetal events were also studied. Determinants of adverse events were examined using logistic regression.Overall, 125 pregnancies in women with BPVs were included, 27% with left-sided and 73% with right-sided BPV. SVD was present in 27% of the pregnancies (44% with left-sided BPVs vs 21% with right-sided BPVs; P = 0.009). CEs occurred in 13% of pregnancies and were more frequent in women with SVD compared with those with normally functioning BPVs (26% vs 8%; P = 0.005). CEs were more common in women with left-sided BPVs with SVD vs normally functioning BPVs (47% vs 5%; P = 0.01) but not in women with right-sided BPVs (11% in those with SVD vs 8% in those without SVD; P = 0.67). Left-sided SVD (P = 0.007), maternal age35 years (P = 0.001), and a composite variable of "high-risk" features (P = 0.006) were predictors of CEs. Fetal events occurred in 28% of pregnancies.In this cohort of young women with BPVs, SVD was present in 27% at the first antenatal visit and negatively affected pregnancy outcomes. In particular, SVD of left-sided BPVs was associated with high rates of adverse outcomes.

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 specialty of cardio-obstetrics has emerged in response to the rising rates of maternal morbidity and mortality related to cardiovascular disease (CVD) during pregnancy. Women of childbearing age with or at risk for CVD should receive appropriate counseling regarding maternal and fetal risks of pregnancy, medical optimization, and contraception advice. A multidisciplinary cardio-obstetrics team should ensure appropriate monitoring during pregnancy, plan for labor and delivery, and ensure close follow-up during the postpartum period when CVD complications remain common. The hemodynamic changes throughout pregnancy and during labor and delivery should be considered with respect to the individual cardiac disease of the patient. The fourth trimester refers to the 12 weeks after delivery and is a key time to address contraception, mental health, cardiovascular risk factors, and identify any potential postpartum complications. Women with adverse pregnancy outcomes are at increased risk of long-term CVD and should receive appropriate education and longitudinal follow-up.

Early surgical tetralogy of Fallot (ToF) repair involved patching across the pulmonic annulus (transannular patch [TAP] repair), which resulted in severe pulmonic regurgitation. Long-term outcome improvements were anticipated with modifications that preserved the pulmonic annulus (annulus-preserving [AP] repair). The objective of the present study was to evaluate the need for late reintervention in adults with AP repair and those with TAP repair.We conducted a retrospective review of adults (born 1981-1996) with childhood intracardiac ToF repairs at a tertiary care center. The primary cardiovascular outcome was need for reintervention after primary intracardiac repair of ToF. Secondary outcomes included a composite of death, heart failure, and ventricular arrhythmias.Two hundred thirty adults were included: 104 with AP repair and 126 with TAP repair. The median age at last follow up was 25 years (interquartile range [IQR] 20-28) and the median follow-up duration was 7.9 years (IQR 3.5-12). Reintervention of any type was significantly more common in the TAP group during both childhood and adulthood (72.2% TAP vs 20.2% AP, HR 5.5, 95% CI 3.4-9.0; P0.001). Pulmonary valve replacement (PVR) was almost 6 times more likely in adults with TAP repair (65.1% TAP vs 16.3% AP, HR 5.7, 95% CI 3.4-9.7; P0.001).Patients who had AP ToF repair had significantly fewer late reinterventions compared with TAP repair, with the majority of reinterventions due to PVR. More long-term follow-up is required.

Background Heart failure (HF) is the leading cause of death in adult patients with congenital heart disease (ACHD). No risk prediction model exists for HF hospitalization (HFH) for ACHD patients. We aimed to develop a clinically relevant one-year risk prediction system to identify ACHD patients at high risk for HFH. Methods Data source was the Quebec CHD Database. A retrospective cohort including all ACHD patients aged 18–64 (1995–2010) was constructed for assessing the cumulative risk of HFH adjusting for competing risk of death. To identify one-year predictors of incident HFH, multivariable logistic regressions were employed to a nested case-control sample of all ACHD patients aged 18–64 in 2009. The final model was used to create a risk score system based on adjusted odds ratios. Results The cohort included 29,991 ACHD patients followed for 648,457 person-years. The cumulative HFH risk by age 65 was 12.58%. The case-control sample comprised 26,420 subjects, of whom 189 had HFHs. Significant one-year predictors were age ≥ 50, male sex, CHD lesion severity, recent 12-month HFH history, pulmonary arterial hypertension, chronic kidney disease, coronary artery disease, systemic arterial hypertension, and diabetes mellitus. The created risk score ranged from 0 to 19. The corresponding HFH risk rose rapidly beyond a score of 8. The risk scoring system demonstrated excellent prediction performance. Conclusions One eighth of ACHD population experienced HFH before age 65. Age, sex, CHD lesion severity, recent 12-month HFH history, and comorbidities constructed a risk prediction model that successfully identified patients at high risk for HFH.

Background The incidence of heart failure among pregnant women with pre-existing cardiac disease is quoted as 13%, with 10% requiring hospitalization. There is limited literature on heart failure in the pregnant population. The study objective was to describe the etiology and management of women hospitalized in our institution for heart failure during pregnancy. Methods A retrospective cohort study investigated women who presented with heart failure in pregnancy between 2004 and 2017. Hospital records were interrogated using International Classification of Diseases v10 codes for heart failure. Patient characteristics, investigations, treatment, obstetric and anesthetic management, and maternal-fetal outcome data were collected and summarized using descriptive statistics. Results One-hundred-and-twenty cases (in 93 122 deliveries) were identified across the 13-year period (antepartum heart failure 51%, postpartum heart failure 49%). The most common etiologies were pre-eclampsia (28%), cardiomyopathy (22%), and valvular heart disease (18%). Cesarean delivery occurred in 76% of cases (13% because of the maternal cardiac condition). Neuraxial techniques were used for most deliveries (cesarean 83%; vaginal 90%). For cesarean delivery, titrated epidural or general anesthesia was employed in 48% and 16%, respectively. Cardiac arrest occurred in two cases (1.7%) and 44% required coronary or intensive care unit admission. Conclusions The incidence of heart failure was 0.13% (1:776 deliveries). Pre-eclampsia was the leading cause but may have been historically under-acknowledged. Anesthetic and obstetrical decisions were tailored by means of multidisciplinary input, with cesarean delivery and regional anesthesia used in the majority. The postpartum period warrants heightened attention for these patients.

BackgroundPatients with Fontan circulation are known to be at high risk for developing atrial tachyarrhythmias (AAs). Our objective was to examine the efficacy and safety of amiodarone in the management of ATs in adult Fontan patients.MethodsPrimary outcomes of this single-centre, retrospective study included freedom from AAs and incidence of adverse effects of amiodarone on Fontan patients. Heart failure (HF) events and composite outcomes of death from any cause, Fontan revision and heart transplantation were evaluated as secondary outcomes. Predictors of HF and discontinuing amiodarone were also evaluated.ResultsA total of 61 patients (mean age 31.6±11.3 years, 40.9% female), who were treated with amiodarone in between 1995 and 2018, were included. AAs free survival at 1, 3 and 5 years were 76.2%, 56.9% and 30.6%, respectively. During a median follow-up of 50.5 months, 34 (55.7%) patients developed side effects, and 20 (32.8%) patients discontinued amiodarone due to side effects. Thyroid dysfunction was the most common side effect (n=26, 76.5%), amiodarone-induced thyrotoxicosis (AIT) (n=16, 27.1%) being most common thyroid dysfunction. Young age (age ConclusionsShort-term efficacy of amiodarone in Fontan physiology is acceptable. However, long-term administration is associated with a reduction of efficacy and a significant prevalence of non-cardiac side effects. AIT is associated with exacerbation of HF. The judicious use of amiodarone administration should be considered in this population.

Pregnancy, which is associated with profound cardiovascular changes and higher risk of thrombosis, increases the risk of cardiovascular complications in women with pre-existing heart disease. A comprehensive history and physical examination, 12-lead electrocardiogram, and transthoracic echocardiogram remain the foundation of assessing cardiac risk during pregnancy in women with heart disease. These are often combined to generate risk scores, which are statistically derived. Several statistically derived risk and 1 lesion-specific classification system are currently available. A suggested clinical approach to risk stratification is first to identify pregnancies in women with cardiac lesions at risk for serious or life-threatening maternal cardiac complications and for the remainder to use the Cardiac Disease in Pregnancy II (CARPREG II) risk score, integrating additional lesion-specific and patient-specific information. Conversely, clinicians can use the modified World Health Organization (mWHO) risk classification system and integrate general risk predictors and patient-specific information. Importantly, cardiac-risk assessment should always incorporate clinical judgement in addition to the use of risk scores or risk-classification systems. As pregnant women with heart disease are also at risk for obstetric and fetoneonatal complications, risk assessment should be performed by a multidisciplinary team, preferably before conception, or as soon as conception is confirmed, and repeated at regular intervals during the course of pregnancy.

BACKGROUND CONTEXT: For over four decades, clinicians and researchers have suggested a relationship between congenital heart disease (CHD) and scoliosis, attributed to either the disease itself or to the long-term effects of cardiac surgery on the immature thoracic cage. However, no study has yet accounted for 22q11.2 deletion syndrome (22q11.2DS), the second most common cause of CHD after Down syndrome. 22q11.2DS has a scoliosis risk of 50%, but within 22q11.2DS a previous report found no significant association between scoliosis and CHD. We, therefore, hypothesized that scoliosis within a CHD cohort would be related to an underlying 22q11.2 deletion. PURPOSE: To determine the prevalence of scoliosis in CHD patients with and without 22q11.2DS. STUDY DESIGN/SETTING: Cross-sectional. PATIENT SAMPLE: A well-characterized existing database of 315 adults with CHD (primarily tetralogy of Fallot), with (n=86) and without (n=229) 22q11.2DS, matched by sex and CHD severity, and excluding other known syndromic diagnoses. We compared the scoliosis prevalence of patients with 22q11.2DS and CHD patients to the prevalence of scoliosis in a cohort of adults with 22q11.2DS without CHD based on medical records. OUTCOME MEASURES: Presence of scoliosis (Cobb angle ≥10°). METHODS: We systematically determined the presence of scoliosis in all included patients using chest radiographs, blind to genetic diagnosis. Besides 22q11.2DS, we analyzed other suspected risk factors for scoliosis using a regression model: thoracotomy before the age of 12 years, severe CHD type and sex. RESULTS: The prevalence of scoliosis in adults with CHD and 22q11.2DS (n=46, 53.5%) was significantly greater than in those without 22q11.2DS (n=18, 7.9%, p

Background There is no systematic evidence review of the long-term results of surgical pulmonary valve replacement (PVR) dedicated to adults with repaired tetralogy of Fallot (rTOF) and pulmonary regurgitation. Methods Our primary objective was to determine whether PVR reduced long-term mortality in adults with rTOF compared with conservative therapy. Secondary objectives were to determine the postoperative incidence rate of death, the changes in functional capacity and in right ventricular (RV) volumes and ejection fraction after PVR, and the postoperative incidence rate of sustained ventricular arrhythmias. A systematic search of multiple databases for studies was conducted without limits. Results No eligible randomized controlled trial or cohort study compared outcomes of PVR and conservative therapy in adults with rTOF. We selected 10 cohort studies (total 657 patients) reporting secondary outcomes. After PVR, the pooled incidence rate of death was 1% per year (95% confidence interval [CI] 0-1% per year) and the pooled incidence rate of sustained ventricular arrhythmias was 1% per year (95% CI 1%-2% per year). PVR improved symptoms (odds ratio for postoperative New York Heart Association functional class > II 0.08, 95% CI 0.03-0.24). Indexed RV end-diastolic (−61.29 mL/m2, −43.64 to −78.94 mL/m2) and end-systolic (−37.20 mL/m2, −25.58 to −48.82 mL/m2) volumes decreased after PVR, but RV ejection fraction did not change (0.19%, −2.36% to 2.74%). The effect of PVR on RV volumes remained constant regardless of functional status. Conclusion Studies comparing PVR and conservative therapy exclusively in adults with rTOF are lacking. After PVR, the incidence rates of death and ventricular tachycardia are both 1 per 100 patient-years. Pooled analyses demonstrated an improved functional status and a reduction in RV volumes.

Adult survivors with congenital heart disease are not cured and residual cardiac valve lesions are common and contribute substantially to long-term morbidity. Given the increased risk of reoperations in patients with previous cardiac surgery, percutaneous treatment options have been developed. Initially percutaneous therapies focused on right ventricular outflow tract lesions, but they have now expanded to include mitral and aortic valve interventions. Although some of these procedures, such as balloon valvuloplasty of pulmonary valve stenosis and percutaneous pulmonary valve replacement, have become standard of care, there are many new and evolving technologies that will likely become important treatment strategies over the coming decade. The key for success of these transcatheter valve procedures is the careful evaluation of the patient's individual anatomy and physiology and a multidisciplinary assessment involving cardiologists specialized in adult congenital heart disease, specialized imagers, cardiac surgeons, and interventionalists. Because many of these percutaneous interventions are relatively new, long-term outcomes are not yet well defined, dictating the need for careful and structured long-term observational studies on outcomes of these novel procedures, which will allow refining the indications of a specific intervention and to improve its technical aspects. The aim of this article is to provide an overview of common valve lesions in the adult congenital heart disease population and to discuss treatment options and strategies with a specific focus on percutaneous options.

The cardiovascular magnetic resonance imaging (CMR) features of adults with repaired truncus arteriosus (rTA) are largely undefined. We sought to explore CMR characteristics in rTA and to identify associations between imaging findings and cardiovascular outcomes. Adults with rTA and CMR were identified and anatomic subtypes (1-4) were assigned (Collett and Edwards classification). CMR characteristics, clinical data at last follow-up and adverse cardiovascular outcome were recorded. Twenty-seven adults (19% male) were studied (median age at cardiovascular magnetic resonance 26 years [interquartile range 18 to 40]) over 5.2-year duration [interquartile range 2.5 to 7.5]. With the exception of mildly increased RV mass (30 ± 12 g/m2), cardiac chamber measurements were within the normal range. In CMR measurements, only pulmonary artery peak velocity differed in subtypes (highest in subtype 3, 318 ± 26 cm/s, p = 0.029). Number of cardiovascular interventions in adulthood was moderately correlated with left ventricular end-diastolic volume (r = 0.463, p = 0.015), left ventricular ejection fraction (r = 0.425, p = 0.027) and neoaortic root size (r = 0.398, p = 0.039). Cardiovascular events (nonmutually exclusive) in 5 of 27 patients (19%) included death (n = 1), heart failure (n = 1), ventricular tachycardia (n = 1), and atrial tachycardia (n = 3). Increased cardiovascular risk was associated with decreased right ventricular ejection fraction (odds ratio 1.153, confidence interval 1.003 to 1.326, p = 0.046) and smaller ascending aorta diameter (odds ratio 1.758, confidence interval 1.037 to 2.976, p = 0.036). In conclusion, decreased right ventricular ejection fraction and smaller ascending aorta on cardiovascular magnetic resonance were associated with adverse events in rTA.

There has been an increase in maternal deaths from cardiovascular disease in many countries. In high income countries, cardiovascular deaths secondary to cardiomyopathies, ischemic heart disease, sudden arrhythmic deaths, aortic dissection, and valve disease are responsible for up to one third of all pregnancy-related maternal deaths. In low- and middle-income countries, rheumatic heart disease is a much more common cause of cardiac death during pregnancy. Although deaths occur in women with known heart conditions or cardiovascular risk factors such as hypertension, many women present for the first time in pregnancy with unrecognized heart disease or with de novo cardiovascular conditions such as preeclampsia, peripartum cardiomyopathy, spontaneous coronary artery dissection. Not only has maternal cardiovascular mortality increased, but serious cardiac morbidity, or 'near misses', during pregnancy have also increased in frequency. Although maternal morbidity and mortality are often preventable, many health care professionals remain unaware of the impact of cardiovascular disease in this population and the lack of awareness contributes to inappropriate care and preventable deaths. In this review, we discuss the maternal mortality from cardiovascular causes in both high and low and middle-income countries and strategies to improve outcomes.

BackgroundComplications and need for reinterventions are frequent in patients with pulmonary valve stenosis (PVS). Pulmonary regurgitation is common, but no data are available on outcome after pulmonary valve replacement (PVR).MethodsWe performed a retrospective analysis of 215 patients with PVS who underwent surgical valvotomy or balloon valvuloplasty. Incidence and predictors of reinterventions and complications were identified. Right ventricle (RV) remodelling after PVR was also assessed.ResultsAfter a median follow-up of 38.6 (30.9–49.4) years, 93% of the patients were asymptomatic. Thirty-nine patients (18%) had at least one PVR. Associated right ventricular outflow tract (RVOT) intervention and the presence of an associated defect were independent predictors of reintervention (OR: 4.1 (95% CI 1.5 to 10.8) and OR: 3.6 (95% CI 1.9 to 6.9), respectively). Cardiovascular death occurred in 2 patients, and 29 patients (14%) had supraventricular arrhythmia. Older age at the time of first intervention and the presence of an associated defect were independent predictors of complications (OR: 1.0 (95% CI 1.0 to 1.1) and OR: 2.1 (95% CI 1.1 to 4.2), respectively). In 16 patients, cardiac magnetic resonance before and after PVR was available. The optimal cut-off values for RV volume normalisation were 193 mL/m2 for RV end-diastolic volume indexed(sensitivity 80%, specificity 64%) and 100 mL/m2 for RV end-systolic volume indexed(sensitivity 80%, specificity 56%).ConclusionsPrevious RVOT intervention, presence of an associated defect and older age at the time of first repair were predictors of outcome. More data are needed to guide timing of PVR, and extrapolation of tetralogy of Fallot guidelines to this population is unlikely to be appropriate.

Background:Tetralogy of Fallot (TOF)—the most common cyanotic heart defect in newborns—has evidence of multiple genetic contributing factors. Identifying variants that are clinically relevant is essential to understand patient-specific disease susceptibility and outcomes and could contribute to delineating pathomechanisms.Methods:Using a clinically driven strategy, we reanalyzed exome sequencing data from 811 probands with TOF, to identify rare loss-of-function and other likely pathogenic variants in genes associated with congenital heart disease.Results:We confirmed a major contribution of likely pathogenic variants inFLT4(VEGFR3 [vascular endothelial growth factor receptor 3]; n=14) andNOTCH1(n=10) and identified 1 to 3 variants in each of 21 other genes, includingATRX,DLL4,EP300,GATA6,JAG1,NF1,PIK3CA,RAF1,RASA1,SMAD2, andTBX1. In addition, multiple loss-of-function variants provided support for 3 emerging congenital heart disease/TOF candidate genes:KDR(n=4),IQGAP1(n=3), andGDF1(n=8). In total, these variants were identified in 63 probands (7.8%). Using the 26 composite genes in a STRING protein interaction enrichment analysis revealed a biologically relevant network (P=3.3×10−16), with VEGFR2 (vascular endothelial growth factor receptor 2;KDR) and NOTCH1 (neurogenic locus notch homolog protein 1) representing central nodes. Variants associated with arrhythmias/sudden death and heart failure indicated factors that could influence long-term outcomes.Conclusions:The results are relevant to precision medicine for TOF. They suggest considerable clinical yield from genome-wide sequencing, with further evidence forKDR(VEGFR2) as a congenital heart disease/TOF gene and for VEGF (vascular endothelial growth factor) and Notch signaling as mechanisms in human disease. Harnessing the genetic heterogeneity of single gene defects could inform etiopathogenesis and help prioritize novel candidate genes for TOF.

Background: Pregnancies in women with regurgitant valve lesions are generally considered low risk, but this has not been well studied. Objectives: This study determined the frequency of adverse cardiac events (CEs) in pregnant women with moderate or severe regurgitant valve lesions. Methods: Maternal and fetal outcomes in women with moderate or severe chronic valve regurgitation enrolled in a prospective multicenter study on pregnancy outcomes were examined. Adverse CEs included heart failure, sustained arrhythmias, cardiac arrest, or death. A multivariate logistic regression model was used to identify determinants of CEs in women at the highest risk. Results: Outcomes of 430 pregnancies in women with moderate or severe regurgitant lesions were examined: 145 with mitral regurgitation (MR), 101 with pulmonary regurgitation (PR), 71 with multivalve disease, 73 with tricuspid regurgitation (TR), and 40 with aortic regurgitation (AR). Most women had associated congenital or acquired heart disease. Adverse CEs occurred in 13% of pregnancies: 27% of pregnancies with multivalve disease; 15% with MR; 15% with TR; 5% with AR; and 3% with PR. Maternal mortality was rare. In women with MR, TR, or multivalve disease (n = 289), left ventricular systolic dysfunction (p = 0.001), pulmonary hypertension (p = 0.005), and cardiac events before pregnancy (p < 0.001) were important determinants of CEs during pregnancy. Conclusions: Women with AR and PR are at low risk for cardiac complications during pregnancy. While many women with MR, TR, and multivalve regurgitation do well during pregnancy, additional clinical variables help stratify those at highest risk. This new information will enhance the quality and precision of preconception counseling and pregnancy planning.

Background Women with heart disease are at risk for pregnancy complications, but their long‐term cardiovascular outcomes after pregnancy are not known. Methods and Results We examined long‐term cardiovascular outcomes after pregnancy in 1014 consecutive women with heart disease and a matched group of 2028 women without heart disease. The primary outcome was a composite of mortality, heart failure, atrial fibrillation, stroke, myocardial infarction, or arrhythmia. Secondary outcomes included cardiac procedures and new hypertension or diabetes mellitus. We compared the rates of these outcomes between women with and without heart disease and adjusted for maternal and pregnancy characteristics. We also determined if pregnancy risk prediction tools (CARPREG [Canadian Cardiac Disease in Pregnancy] and World Health Organization) could stratify long‐term risks. At 20‐year follow‐up, a primary outcome occurred in 33.1% of women with heart disease, compared with 2.1% of women without heart disease. Thirty‐one percent of women with heart disease required a cardiac procedure. The primary outcome (adjusted hazard ratio, 19.6; 95% CI, 13.8–29.0; P P Conclusions Following pregnancy, women with heart disease are at high risk for adverse long‐term cardiovascular outcomes. Current pregnancy risk prediction tools can identify women at highest risk for long‐term cardiovascular events.

Pregnancy is hazardous with pulmonary arterial hypertension, but maternal mortality may have fallen in recent years. We sought to systematically evaluate pulmonary arterial hypertension and pregnancy-related outcomes in the last decade. We searched for articles describing outcomes in pregnancy cohorts published between 2008 and 2018. A total of 3658 titles were screened and 13 studies included for analysis. Pooled incidences and percentages of maternal and perinatal outcomes were calculated. Results showed that out of 272 pregnancies, 214 pregnancies advanced beyond 20 gestational weeks. The mean maternal age was 28 ± 2 years, mean pulmonary artery systolic pressure on echocardiogram was 76 ± 19 mmHg. Etiologies include idiopathic pulmonary arterial hypertension (22%), congenital heart disease (64%), and others (15%). Majority (74%) had good functional class I/II. Only 48% of women received pulmonary arterial hypertension-specific therapy. Premature deliveries occur in 58% of pregnancies at mean of 34 ± 1 weeks, most (76%) had Cesarean section. Maternal mortality rate was 12% overall ( n = 26); even higher for idiopathic pulmonary arterial hypertension etiology alone (20%). Reported causes of death included right heart failure, cardiac arrest, pulmonary arterial hypertension crises, pre-eclampsia, and sepsis; 61% of maternal deaths occur at 0–4 days postpartum. Stillbirth rate was 3% and neonatal mortality rate was 1%. In conclusion, pulmonary arterial hypertension in pregnancy continues to be perilous with high maternal mortality rate. Continued prospective studies are needed.

Pregnancy increases aortic wall stress and, for a woman with a chronic dissection, this can lead to extension of the dissection, aortic rupture, and death. We report a pregnancy in a woman with a history of a chronic type B aortic dissection. As a child, she had repeat balloon dilation of aortic coarctation, and one of the procedures was complicated by an iatrogenic dissection at the dilation site. At the age of 27 years, she had a planned pregnancy.

Mapping and ablation of atrial tachycardia (AT) is commonly performed in lateral tunnel Fontan (LTF) patients, yet there is little information on the need of baffle puncture to access the pulmonary venous atrium (PVA). This study aimed to evaluate the most common chamber location of critical sites for majority of AT in LTF patients. Consecutive LTF patients underwent catheter-based high-density mapping and ablation of AT from Nov. 2015 to Mar. 2019. Critical sites were identified by a combination of activation and entrainment mapping. Acute procedural success was defined as AT termination with ablation and non-inducibility of any AT. Predictors for ablation failure were evaluated in retrospect. Fifteen catheter ablation procedures were performed in 9 patients. A total of 15 clinical ATs (mean TCL 369 ± 91 ms) were mapped. The mechanism was macro re-entry in 11 (73%) and micro re-entry in 2. In 11 ATs (73%), 94 ± 5% of tachycardia cycle length (TCL) were mapped inside the tunnel. The commonest site of successful ablation in the tunnel was on the lateral wall (60%). Trans-baffle access was obtained during 5 of 15 procedures (33%). Overall, procedural success was achieved in 9 of 15 procedures (60%). There were no complications. Recurrence of AT was 42% over a follow-up period of 4.3 ± 3.2 years. Faster TCL of 200–300 ms showed a trend towards ablation failure, (OR 17, 95% CI 0.7 to 423, p = 0.08). Catheter ablation can be performed effectively for ATs in LTF patients usually from inside the tunnel. ATs with critical sites in the PVA are uncommon. This information will help plan ablation in LTF patients without resorting to initial trans-baffle access.

IntroductionStudies on pregnancy risk in women with ischaemic heart disease (IHD) have mainly excluded pregnancies in women with pre-existent IHD. There is a need for better information about the pregnancy risks in these women and their offspring.MethodsWe performed a systematic review searching the PubMed/MEDLINE public database for pregnancy in women with pre-existent IHD analysing the cardiac, obstetric and fetal/neonatal outcome of pregnancy in women with pre-existing IHD. Individual patient data were requested from large series. The primary outcome endpoints was a composite of ischaemic complications including maternal death, acute coronary syndrome and ventricular tachycardia.Results116 women with pre-existent IHD had 124 pregnancies including one twin pregnancy. They had a 21% chance of having an uncomplicated pregnancy (completed pregnancy without cardiovascular, obstetric or fetal/neonatal complications, n=26). Primary (ischaemic) endpoints occurred in 9% (n=11). Women with atherosclerosis had more cardiovascular complications compared with pregnancies in women with other underlying pathology for IHD (50%vs23%, P=0.02) but no significant difference in occurrence of primary endpoints (13% vs 9%, P=0.53). There were two maternal cardiac deaths (2%), one of which occurred in the 18th week of pregnancy and the other postpartum. Obstetric complications occurred in 58% (n=65) of pregnancies and fetal/neonatal complications in 42% (n=47).ConclusionPregnancies in women with pre-existing IHD are high-risk pregnancies. These women have a high risk of ischaemic cardiovascular complications including 2% maternal mortality. The risk of ischaemic complications is especially high among women with atherosclerotic coronary artery disease.

Purpose Given limited data available on long-term outcomes in 22q11.2 deletion syndrome (22q11.2DS), we investigated mortality risk in adults with this microdeletion syndrome. Methods We studied 309 well-characterized adults (age ≥17 years) with 22q11.2DS and their 1014 unaffected parents and siblings, using a prospective case–control design. We used Cox proportional hazards regression modeling and Kaplan–Meier curves to investigate effects of the 22q11.2 deletion and its associated features on all-cause mortality and survival. Results The 22q11.2 deletion (hazard ratio [HR] 8.86, 95% CI 2.87–27.37) and major congenital heart disease (CHD; HR 5.03, 95% CI 2.27–11.17), but not intellectual disability or psychotic illness, were significant independent predictors of mortality for adults with 22q11.2DS compared with their siblings. Amongst those with 22q11.2DS, there were 31 deaths that occurred at a median age of 46.4 (range 18.1–68.6) years; a substantial minority had outlived both parents. Probability of survival to age 45 years was approximately 72% for those with major CHD, and 95% for those with no major CHD (p