Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.

Association of Pectus Excavatum With Ventricular Remodelling and Mitral Valve Abnormalities in Marfan Syndrome.

Background: Marfan syndrome (MFS) is an inherited connective tissue disorder. Pectus excavatum (PEX) is common in MFS. The purpose was to evaluate the association of PEX with cardiovascular manifestations of MFS, biventricular size and function. Methods: MFS adults undergoing cardiac MRI were retrospectively evaluated. Exclusion criteria were incomplete cardiac MRI, significant artifacts, co-existent ischaemic or congenital heart disease. Haller Index (HI) ≥3.25 classified patients as PEX positive (PEX+) and PEX negative (PEX-). Cardiac MRI analysis included assessment of mitral valve prolapse (MVP), mitral annular disjunction (MAD), biventricular volumetry and aortic dimensions. Results: 212 MFS patients were included, 76 PEX+ and 136 PEX- (HI 8.3 ± 15.2 vs 2.3 ± 0.5, P < .001). PEX+ were younger (33.4 ± 12.0 vs 38.1 ± 14.3 years, P = .02) and similar in sex distribution (55% vs 63% male, P = .26) compared to PEX-. MVP and MAD were more frequent in PEX+ vs PEX- (43/76 [57%] vs 37/136 [27%], P < .001; 44/76 [58%] vs 50/136[37%], P = .003, respectively). PEX+ had higher right ventricular end-diastolic and end-systolic volumes (RVEDVi 92 ± 17mL/m2 vs 84 ± 22mL/m2, P = .04; RVESVi 44 ± 10 mL/m2 vs 39 ± 14 mL/m2, P = .02), lower RV ejection fraction (RVEF 52 ± 5% vs 55 ± 6%, P = .01) compared to PEX-. Left ventricular (LV) volumes, LVEF and aortic dimensions were similar. Conclusion: MFS adults with PEX have higher frequency of cardiac manifestations including MV abnormalities, increased RV volumes and lower RVEF compared to those without PEX. Awareness of this association is important for all radiologists who interpret aortic CT or MRI, where HI can be easily measured. PEX in MFS may suggest more severe disease expression necessitating careful screening for MV abnormalities and outcomes surveillance.

Cardiovascular magnetic resonance based diagnosis of left ventricular non-compaction cardiomyopathy: impact of cine bSSFP strain analysis.

BACKGROUND: Investigation of the myocardial strain characteristics of the left ventricular non-compaction (LVNC) phenotype with cardiovascular magnetic resonance (CMR) feature tracking. METHODS: CMR cine balanced steady-state free precession data sets of 59 retrospectively identified LVNC phenotype patients (40 years, IQR: 28-50 years; 51% male) and 36 healthy subjects (39 years, IQR: 30-47 years; 44% male) were evaluated for LV volumes, systolic function and mass. Hypertrabeculation in patients and healthy subjects was evaluated against established CMR diagnostic criteria. Global circumferential strain (GCS), global radial strain (GRS) and global longitudinal strain (GLS) were evaluated with feature-tracking software. Subgroup analyses were performed in patients (n = 25) and healthy subjects (n = 34) with normal LV volumetrics, and with healthy subjects (n = 18) meeting at least one LVNC diagnostic criteria. RESULTS: All LVNC phenotype patients, as well as a significant proportion of healthy subjects, met morphology-based CMR diagnostic criteria: non-compacted (NC): compacted myocardial diameter ratio > 2.3 (100% vs. 19.4%), NC mass > 20% (100% vs. 44.4%) and > 25% (100% vs. 13.9%), and NC mass indexed to body surface area > 15 g/m2 (100% vs. 41.7%). LVNC phenotype patients demonstrated reduced GRS (26.4% vs. 37.1%; p < 0.001), GCS (- 16.5% vs. -20.5%; p < 0.001) and GLS (- 14.6% vs. -17.1%; p < 0.001) compared to healthy subjects, with statistically significant differences persisting on subgroup comparisons of LVNC phenotype patients with healthy subjects meeting diagnostic criteria. GCS also demonstrated independent and incremental diagnostic value beyond each of the morphology-based CMR diagnostic criteria. CONCLUSIONS: LVNC phenotype patients demonstrate impaired strain by CMR feature tracking, also present on comparison of subjects with normal LV volumetrics meeting diagnostic criteria. The high proportion of healthy subjects meeting morphology-based CMR diagnostic criteria emphasizes the important potential complementary diagnostic value of strain in differentiating LVNC from physiologic hypertrabeculation.

Healthcare system inputs and patient-reported outcomes: a study in adults with congenital heart defect from 15 countries.

BACKGROUND: The relationship between healthcare system inputs (e.g., human resources and infrastructure) and mortality has been extensively studied. However, the association between healthcare system inputs and patient-reported outcomes remains unclear. Hence, we explored the predictive value of human resources and infrastructures of the countries' healthcare system on patient-reported outcomes in adults with congenital heart disease. METHODS: This cross-sectional study included 3588 patients with congenital heart disease (median age = 31y; IQR = 16.0; 52% women; 26% simple, 49% moderate, and 25% complex defects) from 15 countries. The following patient-reported outcomes were measured: perceived physical and mental health, psychological distress, health behaviors, and quality of life. The assessed inputs of the healthcare system were: (i) human resources (i.e., density of physicians and nurses, both per 1000 people) and (ii) infrastructure (i.e., density of hospital beds per 10,000 people). Univariable, multivariable, and sensitivity analyses using general linear mixed models were conducted, adjusting for patient-specific variables and unmeasured country differences. RESULTS: Sensitivity analyses showed that higher density of physicians was significantly associated with better self-reported physical and mental health, less psychological distress, and better quality of life. A greater number of nurses was significantly associated with better self-reported physical health, less psychological distress, and less risky health behavior. No associations between a higher density of hospital beds and patient-reported outcomes were observed. CONCLUSIONS: This explorative study suggests that density of human resources for health, measured on country level, are associated with patient-reported outcomes in adults with congenital heart disease. More research needs to be conducted before firm conclusions about the relationships observed can be drawn. TRIAL REGISTRATION: ClinicalTrials.gov: NCT02150603. Registered 30 May 2014.

Advance care planning and palliative care in ACHD: the healthcare providers' perspective.

BACKGROUND: Advance care planning and palliative care are gaining recognition as critical care components for adults with CHD, yet these often do not occur. Study objectives were to evaluate ACHD providers' 1) comfort managing patients' physical symptoms and psychosocial needs and 2) perspectives on the decision/timing of advance care planning initiation and palliative care referral. METHODS: Cross-sectional study of ACHD providers. Six hypothetical patients were described in case format, followed by questions regarding provider comfort managing symptoms, initiating advance care planning, and palliative care referral. RESULTS: Fifty providers (72% physicians) completed surveys. Participants reported low levels of personal palliative care knowledge, without variation by gender, years in practice, or prior palliative care training. Providers appeared more comfortable managing physical symptoms and discussing prognosis than addressing psychosocial needs. Providers recognised advance directives as important, although the percentage who would initiate advance care planning ranged from 18 to 67% and referral to palliative care from 14 to 32%. Barriers and facilitators to discussing advance care planning with patients were identified. Over 20% indicated that advance care planning and end-of-life discussions are best initiated with the development of at least one life-threatening complication/hospitalisation. CONCLUSIONS: Providers noted high value in advance directives yet were themselves less likely to initiate advance care planning or refer to palliative care. This raises the critical questions of when, how, and by whom discussion of these important matters should be initiated and how best to support ACHD providers in these endeavours.

Heart University: a new online educational forum in paediatric and adult congenital cardiac care. The future of virtual learning in a post-pandemic world?

Online learning has become an increasingly expected and popular component for education of the modern-day adult learner, including the medical provider. In light of the recent coronavirus pandemic, there has never been more urgency to establish opportunities for supplemental online learning. Heart University aims to be "the go-to online resource" for e-learning in CHD and paediatric-acquired heart disease. It is a carefully curated open access library of paedagogical material for all providers of care to children and adults with CHD or children with acquired heart disease, whether a trainee or a practising provider. In this manuscript, we review the aims, development, current offerings and standing, and future goals of Heart University.

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

PURPOSE: To determine disease-associated single-gene variants in conotruncal defects, particularly tetralogy of Fallot (TOF). METHODS: We analyzed for rare loss-of-function and deleterious variants in FLT4 (VEGFR3) and other genes in the vascular endothelial growth factor (VEGF) pathway, as part of a genome sequencing study involving 175 adults with TOF from a single site. RESULTS: We identified nine (5.1%) probands with novel FLT4 variants: seven loss-of-function, including an 8-kb deletion, and two predicted damaging. In ten other probands we found likely disruptive variants in VEGF-related genes: KDR (VEGFR2; two stopgain and two nonsynonymous variants), VEGFA, FGD5, BCAR1, IQGAP1, FOXO1, and PRDM1. Detection of VEGF-related variants (19/175, 10.9%) was associated with an increased prevalence of absent pulmonary valve (26.3% vs. 3.4%, p < 0.0001) and right aortic arch (52.6% vs. 29.1%, p = 0.029). Extracardiac anomalies were rare. In an attempt to replicate findings, we identified three loss-of-function or damaging variants in FLT4, KDR, and IQGAP1 in ten independent families with TOF. CONCLUSION: Loss-of-function variants in FLT4 and KDR contribute substantially to the genetic basis of TOF. The findings support dysregulated VEGF signaling as a novel mechanism contributing to the pathogenesis of TOF.

Learning strategies among adult CHD fellows.

OBJECTIVE: Subspecialisation is increasingly a fundamental part of the contemporary practice of medicine. However, little is known about how medical trainees learn in the modern era, and particularly in growing and relatively new subspecialties, such as adult CHD. The purpose of this study was to assess institutional-led and self-directed learning strategies of adult CHD fellows. METHODS: This international, cross-sectional online survey was conducted by the International Society for Adult Congenital Heart Disease and consisted primarily of categorical questions and Likert rating scales. All current or recent (i.e., those within 2 years of training) fellows who reported training in adult CHD (within adult/paediatric cardiology training or within subspecialty fellowships) were eligible. RESULTS: A total of 75 fellows participated in the survey: mean age: 34 ± 5; 35 (47%) female. Most adult CHD subspecialty fellows considered case-based teaching (58%) as "very helpful", while topic-based teaching was considered "helpful" (67%); p = 0.003 (favouring case-based). When facing a non-urgent clinical dilemma, fellows reported that they were more likely to search for information online (58%) than consult a faculty member (29%) or textbook (3%). Many (69%) fellows use their smartphones at least once daily to search for information during regular clinical work. CONCLUSIONS: Fellows receiving adult CHD training reported a preference for case-based learning and frequent use of online material and smartphones. These findings may be incorporated into the design and enhancement of fellowships and development of online training resources.

Cardiac resynchronization therapy in adults with congenital heart disease.

Aims: In adults with congenital heart disease (CHD) heart failure is one of the leading causes of morbidity and mortality but experience with and reported outcome of cardiac resynchronization therapy (CRT) is limited. We investigated the efficacy of CRT in adults with CHD. Methods and results: This was a retrospective study including 48 adults with CHD who received CRT since 2003 in four tertiary referral centres. Responders were defined as patients who showed improvement in NYHA functional class and/or systemic ventricular ejection fraction by at least one category. Ventricular function was assessed by echocardiography and graded on a four point ordinal scale. Median age at CRT was 47 years (range 18-74 years) and 77% was male. Cardiac diagnosis included tetralogy of Fallot in 29%, (congenitally corrected) transposition of great arteries in 23%, septal defects in 25%, left sided lesions in 21%, and Marfan syndrome in 2% of the patients. The median follow-up duration after CRT was 2.6 years (range 0.1-8.8). Overall, 37 out of 48 patients (77%) responded to CRT either by improvement of NYHA functional class and/or systemic ventricular function. There were 11 non-responders to CRT. Of these, three patients died and four underwent heart transplantation. Conclusion: In this cohort of older CHD patients, CRT was accomplished with a success rate comparable to those with acquired heart disease despite the complex anatomy and technical challenges frequently encountered in this population. Further studies are needed to establish appropriate guidelines for patient selection and long term outcome.

Sudden cardiac death in adult congenital heart disease: can the unpredictable be foreseen?

AIMS: Sudden cardiac death (SCD) is a major cause of mortality in adults with congenital heart disease (CHD). Several risk factors for SCD including conduction disturbances and ventricular dysfunction have been described previously. However, electrocardiogram (ECG) and echocardiographic parameters may change over time, and the predictive value of such temporal changes, rather than their point estimates, for SCD remains unknown. METHODS AND RESULTS: This was a retrospective case-control study in adults with CHD and proven or presumed SCD and matched controls. Data were obtained from three databases including 25 000 adults with CHD. Sequential measurements were performed on electrocardiograms and echocardiograms. Ventricular function was assessed by echocardiography and graded on a four-point ordinal scale: 1, normal [ejection fraction (EF) ≥50%]; 2, mildly impaired (EF 40-49%); 3, moderately impaired (EF 30-39%); and 4, severely impaired (EF < 30%). Overall, 131 SCDs (mean age 36 ± 14 years, 67% male) and 260 controls (mean age 37 ± 13 years, 63% male) were included. At baseline, median QRS duration was 108 ms (range 58-168 ms) in SCDs and 97 ms (range 50-168 ms) in controls and increased over time at a rate of 1.6 ± 0.5 vs. 0.5 ± 0.2 ms/year in SCDs and controls, respectively (P = 0.011). QT dispersion at baseline was 61 ms (range 31-168 ms) in SCDs and 50 ms (range 21-129 ms) in controls. QT dispersion increased at a rate of 1.1 ± 0.4 ms/year in SCD victims and decreased at a rate of 0.2 ± 0.2 ms/year in controls (P = 0.004). Increase of QRS duration ≥5 ms/year was associated with an increased risk of SCD [OR 1.9, 95% confidence interval (CI) 1.1-3.3, P = 0.013]. Change from any baseline systemic ventricular function (normal, mild, or moderately impaired) to severe ventricular dysfunction over time was associated with the highest risk of SCD (OR 16.9, 95% CI 1.8-120.1, P = 0.008). CONCLUSION: In adults with CHD, QRS duration and ventricular dysfunction progress over time. Progression of QRS duration and the rate of impairment of ventricular function served to identify those at increased risk of SCD.

Transition of Care in Congenital Heart Disease: Ensuring the Proper Handoff.

BACKGROUND: With great advances in medical and surgical care, most congenital heart disease patients are living in to adulthood and require lifelong surveillance and expert care for adult onset complications. Care lapse and lack of successful transfer from pediatric to adult care put young adults at risk for increased morbidity and premature death. Hence, transition and transfer from pediatric to adult care is a crucial and critical process to provide access to specialized care and lifelong surveillance. PURPOSE OF REVIEW: The aim of this article is to describe barriers to successful transition and transfer and to share practical strategies and concepts to overcome these barriers in order to successfully implement a transition program. RECENT FINDINGS: There are patient-specific, local, and institutional specific barriers to establish a successful transition program which involves many stakeholders. Collaboration of the Pediatric and Adult Congenital Heart Disease programs is paramount; the understanding of the benefit and the need of a structured transition program, dedication, and a proactive approach are essential. Youth- and family-centered education improves healthcare knowledge, self-management, self-advocacy, and appropriate interdependence and helps young adults to take ownership of their health. Nurses play an integral role within the multidisciplinary team in supporting seamless, successful transition and transfer of CHD patients from pediatric to adult care thereby reducing loss to follow-up and lapses in care. Most experiences and recommendations are based on retrospective studies and expert consensus. It is imperative to evaluate the impact of structured and planned transition/transfer programs on the outcomes. Hence, prospective, randomized trials are required to document if implementation of structured intervention transition programs improve knowledge, patient experiences, and outcomes of congenital heart defect survivors.

Revision: review of non-elective hospitalisations of adults with CHD.

Introduction The adult CHD population is increasing and ageing and remains at high risk for morbidity and mortality. In a retrospective single-centre study, we conducted a comprehensive review of non-elective hospitalisations of adults with CHD and explored factors associated with length of stay. METHODS: We identified adults (⩾18 years) with CHD admitted during a 12-month period and managed by the adult CHD service. Data regarding demographics, cardiac history, hospital admission, resource utilisation, and length of stay were extracted. RESULTS: There were 103 admissions of 91 patients (age 37±10 years; 52% female). Of 91 patients, 96% had moderate or complex defects. Of 103 admissions, 45% were through the emergency department. The most common reasons for admission were arrhythmia (37%) and heart failure (28%); 29% of admissions included a stay in the ICU. The mean number of consultations by other services was 2.0. Electrophysiology and anaesthesiology departments were most frequently consulted. After removing outliers, the mean length of stay was 7.9±7.4 days (median=5 days). The length of stay was longer for patients admitted for heart failure (12.2±10.3 days; p=0.001) and admitted directly to the ward (9.6±8.9 days; p=0.009). CONCLUSIONS: Among non-electively hospitalised adults with CHD in a tertiary-care centre, management often entails an interdisciplinary approach, and the length of stay is longest for patients admitted with heart failure. The healthcare system must ensure optimal resources to maintain high-quality care for this expanding patient population.

A cluster randomized trial of a transition intervention for adolescents with congenital heart disease: rationale and design of the CHAPTER 2 study.

BACKGROUND: The population of adolescents and young adults with congenital heart disease (CHD) is growing exponentially. These survivors are at risk of late cardiac complications and require lifelong cardiology care. However, there is a paucity of data on how to prepare adolescents to assume responsibility for their health and function within the adult health care system. Evidence-based transition strategies are required. METHODS: The Congenital Heart Adolescents Participating in Transition Evaluation Research (CHAPTER 2) Study is a two-site cluster randomized clinical trial designed to evaluate the efficacy of a nurse-led transition intervention for 16-17 year olds with moderate or complex CHD. The primary endpoint is excess time to adult CHD care, defined as the time interval between the final pediatric cardiology appointment and the first adult CHD appointment, minus the recommended time interval between these appointments. Secondary endpoints include the MyHeart score (CHD knowledge), Transition Readiness Assessment Questionnaire score, and need for catheter or surgical re-intervention. Participants are enrolled in clusters based on week of attendance in the pediatric cardiology clinic. The intervention consists of two one-hour individualized sessions between a cardiology nurse and study participant. Session One focuses on knowledge of the participant's CHD, review of their cardiac anatomy and prior interventions, and potential late cardiac complications. Session Two focuses on self-management and communication skills through review and discussion of videos and role-play. The study will recruit 120 participants. DISCUSSION: Many adolescents and young adults experience a gap in care predisposing them to late cardiac complications. The CHAPTER 2 Study will investigate the impact of a nurse-led transition intervention among adolescents with CHD. Fidelity of the intervention is a major focus and priority. This study will build on our experience by (i) enrolling at two tertiary care programs, (ii) including a self-management intervention component, and (iii) evaluating the impact of the intervention on time to ACHD care, a clinically relevant outcome. The results of this study will inform pediatric cardiology programs, patients and policy makers in judging whether a structured intervention program provides clinically meaningful outcomes for adolescents and young adults living with CHD. TRIAL REGISTRATION: ClinicalTrials.gov ID NCT01723332.

Worsening Hypoxia Post Lung Transplant: What has Changed?

Platypnoea-orthodeoxia is a rare, but under-diagnosed clinical entity, characterised by postural hypoxia and breathlessness. Underlying pathology is inter-atrial shunt or pulmonary vascular malformation, but what anatomical distortion / physiological alterations initiates right to left shunt, usually against the pressure gradient remains unknown.

Surgical outcome of discrete subaortic stenosis in adults: a multicenter study.

BACKGROUND: Discrete subaortic stenosis is notable for its unpredictable hemodynamic progression in childhood and high reoperation rate; however, data about adulthood are scarce. METHODS AND RESULTS: Adult patients who previously underwent surgery for discrete subaortic stenosis were included in this retrospective multicenter cohort study. Mixed-effects and joint models were used to assess the postoperative progression of discrete subaortic stenosis and aortic regurgitation, as well as reoperation. A total of 313 patients at 4 centers were included (age at baseline, 20.2 years [25th-75th percentile, 18.4-31.0 years]; 52% male). Median follow-up duration was 12.9 years (25th-75th percentile, 6.2-20.1 years), yielding 5617 patient-years. The peak instantaneous left ventricular outflow tract gradient decreased from 75.7±28.0 mm Hg preoperatively to 15.1±14.1 mm Hg postoperatively (P<0.001) and thereafter increased over time at a rate of 1.31±0.16 mm Hg/y (P=0.001). Mild aortic regurgitation was present in 68% but generally did not progress over time (P=0.76). A preoperative left ventricular outflow tract gradient ≥80 mm Hg was a predictor for progression to moderate aortic regurgitation postoperatively. Eighty patients required at least 1 reoperation (1.8% per patient-year). Predictors for reoperation included female sex (hazard ratio, 1.53; 95% confidence interval, 1.02-2.30) and left ventricular outflow tract gradient progression (hazard ratio, 1.45; 95% confidence interval, 1.31-1.62). Additional myectomy did not reduce the risk for reoperation (P=0.92) but significantly increased the risk of a complete heart block requiring pacemaker implantation (8.1% versus 1.7%; P=0.005). CONCLUSIONS: Survival is excellent after surgery for discrete subaortic stenosis; however, reoperation for recurrent discrete subaortic stenosis is not uncommon. Over time, the left ventricular outflow tract gradient slowly increases and mild aortic regurgitation is common, although generally nonprogressive over time. Myectomy does not show additional advantages, and because it is associated with an increased risk of complete heart block, it should not be performed routinely.

Evaluation of a comprehensive cardiovascular magnetic resonance protocol in young adults late after the arterial switch operation for d-transposition of the great arteries.

BACKGROUND: In adults with prior arterial switch operation (ASO) for d-transposition of the great arteries, the need for routine coronary artery assessment and evaluation for silent myocardial ischemia is not well defined. In this observational study we aimed to determine the value of a comprehensive cardiovascular magnetic resonance (CMR) protocol for the detection of coronary problems in adults with prior ASO for d-transposition of the great arteries. METHODS: Adult ASO patients (≥18 years of age) were recruited consecutively. Patients underwent a comprehensive stress perfusion CMR protocol that included measurement of biventricular systolic function, myocardial scar burden, coronary ostial assessment and myocardial perfusion during vasodilator stress by perfusion CMR. Single photon emission computed tomography (SPECT) was performed on the same day as a confirmatory second imaging modality. Stress studies were visually assessed for perfusion defects (qualitative analysis). Additionally, myocardial blood flow was quantitatively analysed from mid-ventricular perfusion CMR images. In unclear cases, CT coronary angiography or conventional angiography was done. RESULTS: Twenty-seven adult ASO patients (mean age 23 years, 85% male, 67% with a usual coronary pattern; none with a prior coronary artery complication) were included in the study. CMR stress perfusion was normal in all 27 patients with no evidence of inducible perfusion defects. In 24 cases the coronary ostia could conclusively be demonstrated to be normal. There was disagreement between CMR and SPECT for visually-assessed perfusion defects in 54% of patients with most disagreement due to false positive SPECT. CONCLUSIONS: Adult ASO survivors in this study had no CMR evidence of myocardial ischemia, scar or coronary ostial abnormality. Compared to SPECT, CMR provides additional valuable information about the coronary artery anatomy. The data shows that the asymptomatic and clinically stable adult ASO patient has a low pre-test probability for inducible ischemia. In this situation it is likely that routine evaluation with stress CMR is unnecessary.

Pregnancy-related obstetric and cardiologic problems in women after atrial switch operation for transposition of the great arteries.

BACKGROUND: The number of women with congenital heart disease reaching reproductive age has increased due to therapeutic advances. The aim of this study was to examine obstetric and cardiac problems during pregnancy after Mustard/Senning repair for transposition of the great arteries. METHODS AND RESULTS: Sixty pregnancies in 34 women from 3 centers were studied. The women were interviewed, and their records reviewed for clinical status and diagnostic evaluation. Age range was 16-34 years during first pregnancy, and all were in a low functional class. There were 11 miscarriages and 5 abortions. Of 44 successful pregnancies, 20 were vaginal deliveries and 24, cesarean sections. A total of 25% were delivered prematurely. Thirteen babies had birth weight <2,500g. Deterioration in functional class occurred in 7 pregnancies, without recovery in 5. Deterioration in systolic function occurred in 4 of 44 echocardiographically documented pregnancies, without recovery in 75%. In 2 women resuscitation was necessary during delivery, in 1, supraventricular tachycardia occurred during labor. CONCLUSIONS: Pregnancy is usually well-tolerated, but outcome is unforeseeable and life-threatening problems can occur. These women belong in cardiac care conducted by experienced congenital cardiologists, who systematically check for typical residua. The pregnancy should be planned and gynecologists/obstetricians with special expertise integrated into the consultations. During delivery a congenital cardiologist, and an anesthetist experienced in congenital cardiology, should be present for possible severe cardiac events.

Natural history of discrete subaortic stenosisin adults: a multicentre study.

AIMS: Discrete subaortic stenosis (DSS) is often diagnosed early in life and known for its sometimes rapid haemodynamic progression in childhood and strong association with aortic regurgitation (AR). However, data about the evolution of DSS in adulthood are scarce. Therefore, we aimed to evaluate the natural history of DSS, and identify risk factors for the progression of DSS, AR, and intervention-free survival. METHODS AND RESULTS: Conservatively managed adult DSS patients were included in this retrospective multicentre cohort study. Mixed-effects and joint models were used to assess the progression of DSS and AR, and intervention-free survival. Longitudinal natural history data were available for 149 patients [age 20 (IQR: 18-34) years, 48% male]. Sixty patients (40.3%) had associated congenital heart defects (CHDs). The median follow-up duration was 6.3 (IQR: 3.0-12.4) years. The baseline peak left ventricular outflow tract (LVOT) gradient was 32.3 ± 17.0 mmHg and increased by 0.8 ± 0.1 mmHg/year. While the baseline LVOT gradient (P = 0.891) or age (P = 0.421) did not influence the progression rate, the presence of associated CHD was associated with faster progression (P = 0.005). Mild AR was common (58%), but did not significantly progress over time (P = 0.701). The median intervention-free survival was 16 years and associated with the baseline LVOT gradient [hazard ratio (HR) = 3.9 (95% CI: 2.0-7.6)], DSS progression [HR = 2.6 (95% CI: 2.0-3.5)], and AR [HR = 6.4 (95% CI 2.6-15.6)]. CONCLUSION: In contrast to children, DSS progresses slowly in adulthood. In particular, patients with associated CHD are at risk for faster progression and should be monitored cautiously. Discrete subaortic stenosis progression is not influenced by the baseline LVOT gradient or age. Mild AR is common, but non-progressive over time.