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Denise van der Linde,
Jolien W Roos-Hesselink,
Dimitris Rizopoulos,
Helena J Heuvelman,
Werner Budts,
Arie P J van Dijk,
Maarten Witsenburg,
Sing C Yap,
Angela Oxenius, Candice K Silversides,
Erwin N Oechslin,
Ad J J C Bogers,
Johanna J M Takkenberg
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ABSTRACT: BACKGROUND: Discrete subaortic stenosis (DSS) is notable for its unpredictable hemodynamic progression in childhood and high re-operation rate, however data about adulthood are scarce. METHODS AND RESULTS: Adult patients who previously underwent surgery for DSS were included in this retrospective multicenter cohort study. Mixed-effects and joint models were used to assess postoperative progression of DSS and aortic regurgitation (AR), and re-operation. A total of 313 patients at 4 centers were included (age at baseline 20.2 years (Q1 to Q3, 18.4-31.0), 52% male). Median follow-up duration was 12.9 years (Q1 to Q3, 6.2-20.1), yielding 5617 patient-years. The peak instantaneous left ventricular outflow tract (LVOT) gradient decreased from 75.7±28.0 mmHg pre-operatively to 15.1±14.1 mmHg postoperatively (p<0.001), and thereafter increased over time at a rate of 1.31±0.16 mmHg per year (p=0.001). Mild AR was present in 68%, but generally did not progress over time (p=0.76). A pre-operative LVOT gradient ≥80 mmHg was a predictor for progression to moderate AR postoperatively. Eighty patients required at least one re-operation (1.8% per patient-year). Predictors for re-operation included female gender (HR=1.53, 95%CI 1.02-2.30) and LVOT gradient progression (HR=1.45, 95%CI 1.31-1.62). Additional myectomy did not reduce the risk for re-operation (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 DSS, however reoperation for recurrent DSS is not uncommon. Over time the LVOT gradient slowly increases and mild AR is common, though generally nonprogressive over time. Myectomy does not show additional advantages and as it is associated with an increased risk of complete heart block, it should not be performed routinely.
Circulation 02/2013; · 14.74 Impact Factor
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Denise van der Linde,
Johanna J M Takkenberg,
Dimitris Rizopoulos,
Helena J Heuvelman,
Werner Budts,
Arie P J van Dijk,
Maarten Witsenburg,
Sing C Yap,
Ad J J C Bogers, Candice K Silversides,
Erwin N Oechslin,
Jolien W Roos-Hesselink
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ABSTRACT: AimsDiscrete 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 resultsConservatively 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.
European Heart Journal 12/2012; · 10.48 Impact Factor
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Denise van der Linde,
Elini-Rosalina Andrinopoulou,
Erwin N Oechslin,
Werner Budts,
Arie P J van Dijk,
Petronella G Pieper,
Elly M C J Wajon,
Marco C Post,
Maarten Witsenburg, Candice K Silversides,
Angela Oxenius,
Ad J J C Bogers,
Johanna J M Takkenberg,
Jolien W Roos-Hesselink
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ABSTRACT: BACKGROUND: Congenital aortic stenosis (AS) is the most common obstructive left-sided cardiac lesion in young adults, however little is known about the progression in adults. Therefore, we aimed to evaluate the progression rate of AS and aortic dilatation in a large multicenter retrospective cohort of asymptomatic young adults with congenital valvular AS. METHODS: Data were obtained from chart abstraction. Linear mixed-effects models were used to evaluate the progression of AS and aortic dilatation over time. A joint model combining longitudinal echocardiographic and survival data was used for survival analysis. RESULTS: A total of 414 patients (age 29±10years, 68% male) were included. Median follow-up duration was 4.1 (2.5-5.1) years (1587 patient-years). Peak aortic velocity was 3.4±0.7m/s at baseline and did not change over time in the total patient population (-0.01±0.03m/s/year). Increased left ventricular mass was significantly associated with faster AS progression (p<0.001). Aortic dilatation was present in 34% at baseline and 48% at follow-up (p<0.001). The aortic diameter linearly increased over time with a rate of 0.7±0.2mm/year. Rate of aortic dissection was 0.06% per patient-year. Seventy patients required an aortic valve intervention (4.4% per patient-year), with AS progression rate as most powerful predictor (HR 5.11 (95% CI 3.47-7.53)). CONCLUSIONS: In the majority of patients with mild-to-moderate congenital AS, AS severity does not progress over time. However patients with left ventricular hypertrophy are at risk for faster progression and should be monitored carefully. Although aortic dissections rarely occur, aortic dilatation is common and steadily progresses over time, warranting serial aortic imaging.
International journal of cardiology 11/2012; · 7.08 Impact Factor
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European Heart Journal 10/2012; · 10.48 Impact Factor
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ABSTRACT: Purpose:Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling.Methods:A systematic review of 22 studies reporting 107 individuals (59 children and 48 adults) with 1q21.1 duplications was conducted. We compiled the available phenotypic data to attempt to identify the most highly associated clinical features and to determine expression in adults. We also report on seven adult cases newly identified in the studies of schizophrenia and tetralogy of Fallot at our center.Results:Five cases were ascertained as controls, 32 as relatives of probands, and 70 as having clinical features: autism spectrum disorder (n = 15), congenital heart disease (n = 12), schizophrenia (n = 10), or other, mostly developmental, features (n = 33). The 1q21.1 duplication was significantly enriched in the cohorts with schizophrenia (P = 0.0155) and tetralogy of Fallot (P = 0.0040) at our center as compared with controls. There was a paucity of clinical data for adults; the most common features, other than those used for ascertainment, included macrocephaly and abnormalities of possible connective tissue origin (e.g., carpal tunnel syndrome).Conclusion:Further data are needed to characterize lifetime expression of 1q21.1 duplications. These initial results, however, suggest that anticipatory care should include attention to later-onset conditions such as schizophrenia.Genet Med advance online publication 27 September 2012Genetics in Medicine (2012); doi:10.1038/gim.2012.129.
Genetics in medicine: official journal of the American College of Medical Genetics 09/2012; · 3.92 Impact Factor
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ABSTRACT: Sudden cardiac death (SCD) is a major cause of mortality in adults with congenital heart disease (CHD). The aim of this study was to determine the adult CHD population at risk of SCD and the clinical parameters associated with SCD.
We performed a multicenter case-control study. Patients who died suddenly as a result of proven or presumed arrhythmia were included (cases). For each case, 2 controls matched on diagnosis, type of surgical intervention, age, and gender were included. From 3 databases including 25 790 adults with CHD, 1189 deaths (5%) were identified, of whom 213 patients (19%) died suddenly. Arrhythmic death occurred in 171 of 1189 patients. The underlying cardiac lesions were mild, moderate, and severe CHD in 12%, 33%, and 55% of the SCD cases, respectively. Clinical variables associated with SCD were supraventricular tachycardia (odds ratio [OR], 3.5; 95% confidence interval [CI], 1.5-7.9; P=0.004), moderate to severe systemic ventricular dysfunction (OR, 3.4; 95% CI, 1.1-10.4; P=0.034), moderate to severe subpulmonary ventricular dysfunction (OR, 3.4; 95% CI, 1.1-10.2; P=0.030), increased QRS duration (OR, 1.34 [per 10-ms increase]; 95% CI, 1.10-1.34; P=0.008), and QT dispersion (OR, 1.22 [per 10-ms increase]; 95% CI, 1.22-1.48; P=0.008).
The clinical parameters found to be associated with SCD in adults with a broad spectrum of CHD, including systemic right ventricles, are similar to those in ischemic heart disease. Moreover, even those patients with mild cardiac lesions are potentially at risk for SCD. This highlights the need for further prospective studies as well as vigilant ongoing follow-up of the adult with CHD.
Circulation 09/2012; 126(16):1944-54. · 14.74 Impact Factor
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ABSTRACT: In congenitally corrected transposition of the great arteries (cc-TGA), the morphologic right ventricle acts as the subaortic (systemic) ventricle, and deterioration of the ventricle over time is a well-known complication. The objective of this study was to characterize the right ventricle and explore factors that may be contributing to ventricular dilation and dysfunction and the relationship with exercise capacity.
This was a prospective study of adults with cc-TGA. All patients underwent cardiopulmonary stress testing, ventricular volume and fibrosis assessment by cardiac magnetic resonance imaging, and Velocity Vector Imaging strain echocardiography.
Twenty-six patients were included (mean age, 38 ± 16 years; 54% women). Exercise capacity was significantly reduced in patients with cc-TGA compared with normal subjects (20.9 ± 6.0 vs 30.8 ± 9.2 mL/kg/min, P = .001). The majority of patients (61%) had right ventricular (RV) ejection fractions ≤ 40%. There was no evidence of fibrosis on cardiac magnetic resonance imaging. There was a significant difference in diastolic volumes among those with RV ejection fractions > 40% versus ≤ 40% (173 ± 29mL vs 233 ± 65 mL, P = .02) and moderate or severe versus no or mild tricuspid regurgitation (240 ± 80mL vs 190 ± 38mL, P = .04). RV apical longitudinal and mid free wall circumferential strain was decreased compared with these values in controls.
In this relatively "well" cc-TGA population, subaortic RV dilation, dysfunction, and exercise intolerance are a common problem. Significant systemic tricuspid atrioventricular valvular regurgitation is an important contributor to the problem. In this study, subaortic RV myocardial deformation parameters were found to be abnormal, suggesting that there is a failure of the ventricle to adapt to systemic pressures, and therapies to reduce afterload should be explored. Recurrent ischemia resulting in fibrosis likely does not contribute to RV dilation or dysfunction as demonstrated by the magnetic resonance imaging findings in this study.
Journal of the American Society of Echocardiography: official publication of the American Society of Echocardiography 09/2012; 25(11):1215-21. · 2.98 Impact Factor
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ABSTRACT: Objectives: Recommendations for the peripartum obstetric management of women with heart disease have included early induction of labour, shortening the second stage of labour during vaginal delivery, and low threshold for elective Caesarean section, although such techniques may result in complications. The objective of this study was to determine whether a less aggressive approach without routine preterm induction, shortening of the second stage, or Caesarean section adversely affects the mother or neonate. Methods: We examined peripartum obstetric management and its relationship with adverse maternal and neonatal outcomes in 1677 pregnancies: 559 in women with heart disease and 1118 in women without heart disease (control subjects). Logistic regression with propensity matching was used to compare outcomes in women with and without heart disease. Results: Women with heart disease were more likely than control subjects to undergo induction of labour (P < 0.001). Induction of labour tended to be at term and for logistical reasons, not for the indication of maternal heart disease. Assisted vaginal deliveries were more common in women with heart disease (29% vs. 11%, P < 0.001) than in those without, and the second stage of labour was also more prolonged in women with heart disease. Rates of Caesarean section were similar in both groups (P = 0.66). A significant proportion of women with heart disease had unassisted vaginal deliveries. Invasive cardiac monitoring was rarely used. Adverse maternal cardiac events at delivery were rare (2% of pregnancies) and were not associated with mode of delivery. In multivariate analysis, maternal heart disease was not predictive of adverse neonatal events or third- or fourth- degree lacerations. Maternal heart disease was associated with postpartum hemorrhage, but this was not related to assisted delivery or prolonged second stage of labour. Conclusion: This large study has shown that in women with heart disease, avoidance of early induction of labour, rare use of Caesarean section for cardiac indications, and selective use of invasive monitoring produces safe obstetric outcomes.
Journal of obstetrics and gynaecology Canada: JOGC = Journal d'obstetrique et gynecologie du Canada: JOGC 09/2012; 34(9):812-9.
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Candice K Silversides,
Anath C Lionel,
Gregory Costain,
Daniele Merico,
Ohsuke Migita,
Ben Liu,
Tracy Yuen,
Jessica Rickaby,
Bhooma Thiruvahindrapuram,
Christian R Marshall,
Stephen W Scherer,
Anne S Bassett
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ABSTRACT: Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, but to date little is known about the role of CNVs in the etiology of TOF. Using high-resolution genome-wide microarrays and stringent calling methods, we investigated rare CNVs in a prospectively recruited cohort of 433 unrelated adults with TOF and/or pulmonary atresia at a single centre. We excluded those with recognized syndromes, including 22q11.2 deletion syndrome. We identified candidate genes for TOF based on converging evidence between rare CNVs that overlapped the same gene in unrelated individuals and from pathway analyses comparing rare CNVs in TOF cases to those in epidemiologic controls. Even after excluding the 53 (10.7%) subjects with 22q11.2 deletions, we found that adults with TOF had a greater burden of large rare genic CNVs compared to controls (8.82% vs. 4.33%, p = 0.0117). Six loci showed evidence for recurrence in TOF or related congenital heart disease, including typical 1q21.1 duplications in four (1.18%) of 340 Caucasian probands. The rare CNVs implicated novel candidate genes of interest for TOF, including PLXNA2, a gene involved in semaphorin signaling. Independent pathway analyses highlighted developmental processes as potential contributors to the pathogenesis of TOF. These results indicate that individually rare CNVs are collectively significant contributors to the genetic burden of TOF. Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models.
PLoS Genetics 08/2012; 8(8):e1002843. · 8.69 Impact Factor
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Matthias Greutmann,
Daniel Tobler,
Nakul Chander Sharma,
Isabelle Vonder Muhll,
Siegrun Mebus,
Harald Kaemmerer,
Pia K Schuler,
John E Deanfield,
Luc Beauchesne,
Omid Salehian,
Andreas Hoffmann,
Vasilisa Golovatyuk,
Erwin N Oechslin, Candice K Silversides
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ABSTRACT: Aims Supravalvar aortic stenosis is a rare form of left ventricular outflow tract obstruction that is often progressive in childhood. Little data are available on outcomes in the adult population. Our aim was to define cardiac outcomes in adults with supravalvar aortic stenosis. Methods and results This is a multicentre retrospective study of cardiac outcomes in adults (≥18 years) with supravalvar aortic stenosis. We examined: (i) adverse cardiac events (cardiovascular death, myocardial infarction, stroke, heart failure, sustained arrhythmias, and infective endocarditis) and (ii) the need for cardiac surgery in adulthood. One hundred and thirteen adults (median age at first visit 19 years; 55% with Williams-Beuren syndrome; 67% with surgical repair in childhood) were identified. Adults without Williams-Beuren syndrome had more severe supravalvar aortic stenosis and more often associated left ventricular outflow tract obstructions (P < 0.001). In contrast, mitral valve regurgitation was more common in patients with Williams-Beuren syndrome. Eighty-five per cent of adults (96/113) had serial follow-up information (median follow-up 6.0 years). Of these patients, 13% (12/96) had an adverse cardiac event and 13% (12/96) had cardiac operations (7 valve repair or replacements, 4 supravalvar aortic stenosis repairs, 1 other). Cardiac surgery was more common in adults without Williams-Beuren syndrome (P = 0.007). Progression of supravalvar aortic stenosis during adulthood was rare. Conclusion Adults with supravalvar aortic stenosis remain at risk for cardiac complications and reoperations, while progression of supravalvar aortic stenosis in adulthood is rare. Valve surgery is the most common indication for cardiac surgery in adulthood.
European Heart Journal 07/2012; 33(19):2442-50. · 10.48 Impact Factor
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ABSTRACT: There are a growing number of women with congenital heart disease reaching adulthood and contemplating and/or undergoing pregnancy. However, pregnancy imposes hemodynamic stress on the heart and this can result in maternal, fetal and neonatal complications. Most women with congenital heart disease do well during pregnancy, but some women with high-risk cardiac lesions will not tolerate the hemodynamic changes of pregnancy. Physicians must be aware of the potential risks for the mother both during and after pregnancy, the risks to the fetus and neonate, and the risks and benefits of medications and procedures used during pregnancy. For women with complex cardiac conditions, management during pregnancy benefits from multidisciplinary care involving cardiologists with expertise in pregnancy, obstetricians with expertise in maternal fetal medicine, neonatologists and obstetric anesthetists, among others. This review will focus on the cardiac risks faced by women with congenital heart disease; particularly those at high risk, and on management strategies to mitigate risk and address cardiac complications.
Future Cardiology 03/2012; 8(2):315-27.
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ABSTRACT: Isolated left ventricular noncompaction is a rare form of primary cardiomyopathy. Although increasingly diagnosed, data on the outcomes are limited. To define the predictors of adverse outcomes, we performed a retrospective analysis of a prospectively defined cohort of consecutive patients (age >14 years) diagnosed with left ventricular noncompaction at a single center. The baseline characteristics included presentation with a cardiovascular complication (i.e., decompensated heart failure, systemic embolic event, or sustained ventricular arrhythmia). The primary end point was survival free from cardiovascular death or transplantation. The predictors of survival were evaluated using the Kaplan-Meier method and Cox proportional hazards analysis. A total of 115 patients were included, 77% of whom were symptomatic at diagnosis. Compared to the asymptomatic patients, the symptomatic patients were significantly older and had larger left ventricular cavities and worse left ventricular ejection fraction. Of the 115 patients, 49 (43%) presented with a cardiovascular complication. During a median follow-up of 2.7 years (range 0.1 to 19.4), none of the asymptomatic patients died or underwent transplantation compared to 31% (27 of 88) of the symptomatic patients (p = 0.001). The major determinants of cardiovascular death or transplantation were presentation with a cardiovascular complication (hazard ratio 20.6, 95% confidence interval 4.9 to 87.5, p <0.0001) or New York Heart Association class III or greater (hazard ratio 8.8, 95% confidence interval 3.2 to 24.0, p <0.0001). Left ventricular dilation and systolic dysfunction were less strong predictors. In conclusion, in patients with left ventricular noncompaction, New York Heart Association class III or greater and cardiovascular complications at presentation are strong predictors for adverse outcome.
The American journal of cardiology 01/2012; 109(2):276-81. · 3.58 Impact Factor
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ABSTRACT: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. In a minority of patients, the underlying 22q11.2 deletion is found to have been inherited, usually from an affected mother. Serious neuropsychiatric conditions that are commonly associated features of 22q11.2DS could disproportionately affect reproductive success in males.
This study compared standard measures of reproductive fitness (mean number of liveborn offspring and proportion childless) in 141 Canadian adults with 22q11.2DS (cases) and their 200 unaffected siblings (controls). Multivariate regression models were used to identify phenotypic predictors of fitness in 22q11.2DS.
The adults with 22q11.2DS had significantly fewer children than their siblings (p<0.0001, relative fitness=0.28); 85.8% were childless. As expected, younger age (p<0.0001), mental retardation (p=0.0211), and schizophrenia (p=0.0046) were significant negative predictors of reproductive fitness in 22q11.2DS; however, serious congenital heart disease was not. Female sex emerged as a significant positive predictor of fitness independent of the major neuropsychiatric phenotypes (p=0.0082). Post-hoc analyses corroborated these sex differences. Notably, fitness in women with 22q11.2DS with neither mental retardation nor schizophrenia was not significantly different from that of unaffected female siblings.
There is a strong negative selective pressure against 22q11.2 deletions. This appears to be primarily mediated by the severity of the neuropsychiatric phenotype and an independent sexual selection effect. The latter also contributes to the observed excess of transmitting mothers. These results may have implications both for the evolutionary biology of this structural rearrangement and for genetic counselling and reproductive services for adolescents and adults with 22q11.2DS.
Journal of Medical Genetics 11/2011; 48(12):819-24. · 6.36 Impact Factor
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ABSTRACT: The prevalence of intra-atrial reentrant tachycardia (IART) increases with age in Fontan patients. This study aimed to characterize the atrial electroanatomic substrate for IART late after Fontan surgery.
Detailed electroanatomic mapping of the right atrium (RA) was performed in 11 consecutive patients (33 ± 9 years) with older style Fontan circulation (atriopulmonary and atrioventricular connection) who underwent their first radiofrequency catheter ablation (RFCA) for IART. A comparative group of 30 non-Fontan congenital heart disease (CHD) patients were also studied. Fontan patients had larger RA (P = 0.004), larger low-voltage area ≤ 0.5 mV (P = 0.01), and more fractionated potentials (P < 0.001) than non-Fontan CHD patients. RA enlargement correlated significantly with both low-voltage zones (Spearman ρ= 0.68, P < 0.001) and fractionated potentials (Spearman ρ= 0.48, P = 0.001). Among Fontan patients, both age and time since Fontan surgery were significantly correlated to the amount of low-voltage areas (Spearman ρ= 0.87, P < 0.001; Spearman ρ= 0.63, P = 0.04, respectively). Successful RFCA was accomplished in 30 (73%) patients and was less likely in Fontan patients (54% vs 83%, P = 0.04). Larger RA was significantly associated with a lower success rate (P = 0.04). During a follow-up duration of 2.3 ± 1.6 years, IART recurred in 47% of patients. Larger RA size and larger low-voltage areas predicted IART recurrence after RFCA.
Fontan patients demonstrate progressive adverse atrial electrical remodeling with increasing age and time since surgery. Newer strategies beyond surgical incisions, such as pharmacotherapies that retard the progression of atrial fibrosis, may be required to reduce the long-term risk of atrial arrhythmias.
Journal of Cardiovascular Electrophysiology 10/2011; 23(4):339-45. · 3.06 Impact Factor
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Vera Regitz-Zagrosek,
Carina Blomstrom Lundqvist,
Claudio Borghi,
Renata Cifkova,
Rafael Ferreira,
Jean-Michel Foidart,
J Simon R Gibbs,
Christa Gohlke-Baerwolf,
Bulent Gorenek,
Bernard Iung, [......],
Silvia G Priori,
Maria J Salvador,
Avraham Shotan, Candice K Silversides,
Sven O Skouby,
Jörg-Ingolf Stein,
Pilar Tornos,
Niels Vejlstrup,
Fiona Walker,
Carole Warnes
European Heart Journal 08/2011; 32(24):3147-97. · 10.48 Impact Factor
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ABSTRACT: BACKGROUND: The utility of cardiac magnetic resonance imaging (CMR) for assessment of adults with Ebstein anomaly is not well-defined. We sought to evaluate CMR characteristics in this population and to relate these to exercise parameters. METHODS: We analyzed CMR studies in adults with unrepaired Ebstein anomaly for measures of severity of Ebstein disease, including atrialized, functional and total right ventricular (RV) volumes, ejection fraction (EF) and severity index (area of atrialized RV+right atrium/functional RV+left ventricle+left atrium). We related these CMR values to cardiopulmonary exercise test measurements. RESULTS: Twenty-seven adults (mean age 41±14years, 70% female) were included. Functional RV end-diastolic volume (EDV) was 150±68mL/m(2) and atrialized RVEDV was 25±24mL/m(2). In 17 patients (63%), the functional RVEDV was enlarged (>114mL/m(2)). Percent predicted peak VO(2) for the population was 65±20%. On univariable analysis, peak VO(2) was inversely related to atrialized RVEDV (p=0.011), total RVEDV (p=0.041), functional RVEDV/left ventricular EDV ratio (p=0.015) and magnitude of tricuspid valve displacement (p=0.031). In the multivariate model, the only CMR factor to relate to peak VO(2) was atrialized RVEDV (p=0.011, β=-0.48). No significant correlations were found between CMR measures and heart rate response or ventilatory response to exercise. CONCLUSION: In adults with unrepaired Ebstein anomaly, atrialized RV volume was independently related to aerobic capacity. The volume of the atrialized RV is a novel CMR measure which may express severity of disease. Further research is needed to evaluate the prognostic relevance of this exploratory work.
International journal of cardiology 08/2011; · 7.08 Impact Factor
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ABSTRACT: The purpose of this study was to determine the prevalence of valvular aortic stenosis requiring surgery in patients with a pre-existing diagnosis of subaortic stenosis.
Classic teachings emphasize aortic regurgitation as the most common complication associated with discrete subaortic stenosis. We hypothesized that significant aortic stenosis may also be an important valve lesion associated with this condition.
Clinical outcomes in patients with subaortic stenosis were examined. The primary outcome of interest was the prevalence of valvular aortic stenosis requiring surgery (surgical valvotomy or valve replacement). Logistic regression was used to identify variables associated with the need for surgery for aortic stenosis.
One hundred twenty-one adults with subaortic stenosis (median age 32 years) were evaluated in our clinic. Associated lesions were common: 23% had bicuspid valves and 21% had coarctation of the aorta. Seventy-nine percent of the patients had at least 1 surgical resection of subaortic tissue (median age 12 years). Moderate to severe aortic regurgitation was present in 16% of patients (19 of 121), 3 of whom required surgical intervention in adulthood. Twenty-six percent of patients (32 of 121) required surgery for valvular aortic stenosis. Valve surgery for aortic stenosis was more common in patients with concomitant bicuspid aortic valve disease (p = 0.008), coarctation of the aorta (p = 0.03), and supravalvular stenosis (p = 0.02).
Valvular aortic stenosis is a surprisingly common finding in patients with discrete subaortic stenosis. Careful clinical follow-up of this population to monitor aortic valve status continues to be warranted even after a successful surgical resection.
Journal of the American College of Cardiology 08/2011; 58(9):962-5. · 14.16 Impact Factor
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ABSTRACT: BACKGROUND: There are now more adults with congenital heart disease than children. This aging cohort is at risk for acquired heart diseases such as coronary artery disease (CAD). The purpose of the study was to examine the clinical features of the CAD in adults with congenital heart disease. METHODS: A retrospective chart review was performed. The clinical characteristics of adults with congenital heart disease and angiographically confirmed atherosclerotic CAD were examined. RESULTS: One hundred and forty-one adults with CAD (69% male) were identified from a total of 12,124 patients (1%) seen in our congenital cardiac clinic. The most common cardiac diagnoses were atrial septal defect, bicuspid aortic valve disease, tetralogy of Fallot and coarctation of the aorta. We identified 7 adults with Eisenmenger physiology and CAD. The mean age of diagnosis of CAD was 56 ±13years. Twenty patients had premature CAD (14%) presenting before age 40years. Traditional risk factors of patients with CAD were common and were present in the majority (82%) of patients. While many adults had symptoms of angina or myocardial infarction, a significant proportion (38%) were asymptomatic. The age at diagnosis in patients with coarctation of the aorta was younger than other subgroups (48±13years). Seventy-seven percent (109/141) underwent percutaneous or surgical coronary interventions. CONCLUSION: Atherosclerotic coronary artery disease may coexist with congenital heart disease. Coronary artery disease in adults with congenital heart disease typically occurs later in adulthood and in patients with traditional cardiovascular risk factors. This study highlights the need for cardiovascular risk factor screening and therapy when indicated.
International journal of cardiology 07/2011; · 7.08 Impact Factor
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ABSTRACT: Atrial arrhythmias are associated with an increased mortality risk in adults with congenital heart disease (CHD). However, little is known about risk stratification in the specific group of adult patients with CHD and atrial arrhythmias. We sought to identify predictors of mortality in adult with CHD and atrial arrhythmias and to establish a risk score. The study involved 378 adult patients with CHD (mean age 39 ± 13 years) and atrial arrhythmias who had serial follow-up in a tertiary referral center from 1999 through 2009. During a median follow-up of 5.2 years, there were 40 deaths (11%). Overall mortality rate was 2.0% per patient-year. Common modes of death included heart failure-related death (35%), sudden cardiac death (20%), and perioperative death (18%). Independent predictors of mortality were poor functional class (hazard ratio 3.69, 95% confidence interval [CI] 1.69 to 8.03, p = 0.001), single-ventricle physiology (hazard ratio 3.33, 95% CI 1.51 to 7.35, p = 0.003), pulmonary hypertension (hazard ratio 2.96, 95% CI 1.41 to 6.19, p = 0.004), and valvular heart disease (hazard ratio 2.73, 95% CI 1.33 to 5.59, p = 0.006). A risk score was constructed using these predictors in which patients were assigned 1 point for the presence of each risk factor. Mortality rates in the low-risk (no risk factor), moderate-risk (1 risk factor), and high-risk (>1 risk factor) groups were 0.5%, 1.9%, and 6.5% per patient-year, respectively (log-rank p <0.001). In conclusion, in adult with CHD and atrial arrhythmias specific clinical variables identify patients at high risk for death. Importantly, the absence of any of these risk factors is associated with an excellent survival despite the presence of atrial arrhythmias.
The American journal of cardiology 06/2011; 108(5):723-8. · 3.58 Impact Factor
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Daniel Tobler,
Andrew M Crean,
Andrew N Redington,
Glen S Van Arsdell,
Christopher A Caldarone,
Kumar Nanthakumar,
Dominik Stambach,
Laura Dos,
Bernd J Wintersperger,
Erwin N Oechslin, Candice K Silversides,
Rachel M Wald
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ABSTRACT: Adverse ventricular-ventricular interactions have been recognized in those with repaired tetralogy of Fallot (TOF) and severe pulmonary regurgitation.
We aimed to examine the impact of pulmonary valve replacement (PVR) on the left heart late after TOF repair.
Left ventricular (LV) volumes and ejection fractions (EF) were analyzed in adults with severe pulmonary regurgitation after TOF repair with cardiac magnetic resonance imaging (CMR) before and after PVR. Thirty-nine patients (median age 33[20-65] years) were reviewed. Post-PVR, LVEF improved significantly in the entire cohort (50±9%→54±7%, p<0.001) and in those with moderately impaired (defined as LVEF ≤45%) preoperative LVEF (38±5%→47±6%, p<0.0001), but was not statistically different in those with relatively preserved (defined as LVEF >45%) preoperative LVEF. By multivariate linear regression analysis to evaluate independent CMR predictors of improved LVEF post-PVR for the entire cohort, the only CMR variable to emerge was preoperative LVEF (p=0.012, regression coefficient -0.54, SE 0.13). Whereas PVR resulted in increased LV filling in patients with relatively preserved preoperative LVEF reflected by an increase in LV end-diastolic volumes (77±10→82±16mL/m(2), p=0.05), LV end-systolic volumes decreased after PVR in patients with impaired preoperative LVEF (65±12→54±10mL/m(2), p=0.001) but LV end-diastolic volumes were not significantly changed.
When LVEF is decreased after TOF repair, PVR appears to have a salutary effect on postoperative LVEF, thereby supporting the concept of recovery of adverse right-left heart interactions. Mechanisms of left heart improvement post-PVR differ depending on degree of preoperative LV systolic dysfunction.
International journal of cardiology 05/2011; 160(3):165-70. · 7.08 Impact Factor
