Michael G. Earing

Arrhythmia Burden in Adults With Surgically Repaired Tetralogy of Fallot A Multi-Institutional Study

Background— The arrhythmia burden in tetralogy of Fallot, types of arrhythmias encountered, and risk profile may change as the population ages. Methods and Results— The Alliance for Adult Research in Congenital Cardiology (AARCC) conducted a multicenter cross-sectional study to quantify the arrhythmia burden in tetralogy of Fallot, to characterize age-related trends, and to identify associated factors. A total of 556 patients, 54.0% female, 36.8±12.0 years of age were recruited from 11 centers. Overall, 43.3% had a sustained arrhythmia or arrhythmia intervention. Prevalence of atrial tachyarrhythmias was 20.1%. Factors associated with intraatrial reentrant tachycardia in multivariable analyses were right atrial enlargement (odds ratio [OR], 6.2; 95% confidence interval [CI], 2.8 to 13.6), hypertension (OR, 2.3; 95% CI, 1.1 to 4.6), and number of cardiac surgeries (OR, 1.4; 95% CI, 1.2 to 1.6). Older age (OR, 1.09 per year; 95% CI, 1.05 to 1.12), lower left ventricular ejection fraction (OR, 0.93 per unit; 95% CI, 0.89 to 0.96), left atrial dilation (OR, 3.2; 95% CI, 1.5 to 6.8), and number of cardiac surgeries (OR, 1.5; 95% CI, 1.2 to 1.9) were jointly associated with atrial fibrillation. Ventricular arrhythmias were prevalent in 14.6% and jointly associated with number of cardiac surgeries (OR, 1.3; 95% CI, 1.1 to 1.6), QRS duration (OR, 1.02 per 1 ms; 95% CI, 1.01 to 1.03), and left ventricular diastolic dysfunction (OR, 3.3; 95% CI, 1.5 to 7.1). Prevalence of atrial fibrillation and ventricular arrhythmias markedly increased after 45 years of age. Conclusions— The arrhythmia burden in adults with tetralogy of Fallot is considerable, with various subtypes characterized by different profiles. Atrial fibrillation and ventricular arrhythmias appear to be influenced more by left- than right-sided heart disease.

Pediatric Pulmonary Hypertension Guidelines From the American Heart Association and American Thoracic Society

Pulmonary hypertension is associated with diverse cardiac, pulmonary, and systemic diseases in neonates, infants, and older children and contributes to significant morbidity and mortality. However, current approaches to caring for pediatric patients with pulmonary hypertension have been limited by the lack of consensus guidelines from experts in the field. In a joint effort from the American Heart Association and American Thoracic Society, a panel of experienced clinicians and clinician-scientists was assembled to review the current literature and to make recommendations on the diagnosis, evaluation, and treatment of pediatric pulmonary hypertension. This publication presents the results of extensive literature reviews, discussions, and formal scoring of recommendations for the care of children with pulmonary hypertension.

Peripheral artery tonometry demonstrates altered endothelial function in children with type 1 diabetes.

Objectives:  To assess the ability of reactive hyperemia–peripheral artery tonometry (RH‐PAT) to serve as a surrogate marker of endothelial dysfunction in children with type 1 diabetes (T1D).

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Fibulin-4 is a member of the fibulin family, a group of extracellular matrix proteins prominently expressed in medial layers of large veins and arteries. Involvement of the FBLN4 gene in cardiovascular pathology was shown in a murine model and in three patients affected with cutis laxa in association with systemic involvement. To elucidate the contribution of FBLN4 in human disease, we investigated two cohorts of patients. Direct sequencing of 17 patients with cutis laxa revealed no FBLN4 mutations. In a second group of 22 patients presenting with arterial tortuosity, stenosis and aneurysms, FBLN4 mutations were identified in three patients, two homozygous missense mutations (p.Glu126Lys and p.Ala397Thr) and compound heterozygosity for missense mutation p.Glu126Val and frameshift mutation c.577delC. Immunoblotting analysis showed a decreased amount of fibulin-4 protein in the fibroblast culture media of two patients, a finding sustained by diminished fibulin-4 in the extracellular matrix of the aortic wall on immunohistochemistry. pSmad2 and CTGF immunostaining of aortic and lung tissue revealed an increase in transforming growth factor (TGF)β signaling. This was confirmed by pSmad2 immunoblotting of fibroblast cultures. In conclusion, patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis. This confirms the important role of fibulin-4 in vascular elastic fiber assembly. Furthermore, we provide the first evidence for the involvement of altered TGFβ signaling in the pathogenesis of FBLN4 mutations in humans.

Prevalence of Left Ventricular Systolic Dysfunction in Adults With Repaired Tetralogy of Fallot

Left ventricular (LV) systolic dysfunction has been observed in patients with repaired tetralogy of Fallot (TOF), although its clinical associations are unknown. Adults with repaired TOF were identified from 11 adult congenital heart disease centers. Clinical history was reviewed. Patients with pulmonary atresia were excluded. Echocardiograms were reanalyzed to estimate LV ejection fraction. LV function was defined as normal (LV ejection fraction ≥ 55%) or mildly (45% to 54%), moderately (35% to 44%), or severely (< 35%) decreased. Right ventricular (RV) and LV dimensions and Doppler parameters were remeasured. Function of all valves was qualitatively scored. Of 511 patients studied, LV systolic dysfunction was present in 107 (20.9%, 95% confidence interval 17.4 to 24.5). Specifically, 74 (14.4%) had mildly decreased and 33 (6.3%) had moderately to severely decreased systolic function. Presence of moderate to severe LV dysfunction was associated with male gender, LV enlargement, duration of shunt before repair, history of arrhythmia, QRS duration, implanted cardioverter-defibrillator, and moderate to severe RV dysfunction. Severity or duration of pulmonary regurgitation was not different. In conclusion, LV systolic dysfunction was found in 21% of adult patients with TOF and was associated with shunt duration, RV dysfunction, and arrhythmia.

Prevalence and predictors of gaps in care among adult congenital heart disease patients: HEART-ACHD (The Health, Education, and Access Research Trial)

OBJECTIVES The goal of this project was to quantify the prevalence of gaps in cardiology care, identify predictors of gaps, and assess barriers to care among adult congenital heart disease (adult CHD) patients. BACKGROUND Adult CHD patients risk interruptions in care that are associated with undesired outcomes. METHODS Patients (18 years of age and older) with their first presentation to an adult CHD clinic completed a survey regarding gaps in, and barriers to, care. RESULTS Among 12 adult CHD centers, 922 subjects (54% female) were recruited. A >3-year gap in cardiology care was identified in 42%, with 8% having gaps longer than a decade. Mean age at the first gap was 19.9 years. The majority of respondents had more than high school education and knew their heart condition. The most common reasons for gaps included feeling well, being unaware that follow-up was required, and complete absence from medical care. Disease complexity was predictive of a gap in care with 59% of mild, 42% of moderate, and 26% of severe disease subjects reporting gaps (p < 0.0001). Clinic location significantly predicted gaps (p < 0.0001), whereas sex, race, and education level did not. Common reasons for returning to care were new symptoms, referral from provider, and desire to prevent problems. CONCLUSIONS Adult CHD patients have gaps in cardiology care; the first lapse commonly occurred at age ∼19 years, a time when transition to adult services is contemplated. Gaps were more common among subjects with mild and moderate diagnoses and at particular locations. These results provide a framework for developing strategies to decrease gaps and address barriers to care in the adult CHD population.

Congenital Heart Disease in the Older Adult A Scientific Statement From the American Heart Association

The population of adults with congenital heart disease (ACHD) has increased dramatically over the past few decades, with many people who are now middle-aged and some in the geriatric age range. This improved longevity is leading to increased use of the medical system for both routine and episodic care, and caregivers need to be prepared to diagnose, follow up, and treat the older adult with congenital heart disease (CHD). The predictable natural progression of CHD entities and sequelae of previous interventions must now be treated in the setting of late complications, acquired cardiac disease, multiorgan effects of lifelong processes, and the unrelenting process of aging. Despite the advances in this field, death rates in the population from 20 to >70 years of age may be twice to 7 times higher for the ACHD population than for their peers.1 This American Heart Association (AHA) scientific statement will focus on the older adult (>40 years old) with CHD. It is meant to be complementary to the 2008 American College of Cardiology (ACC)/AHA guidelines for ACHD and orient the reader to the natural history, ramifications of childhood repair, and late initial diagnosis of CHD in the older adult. This population with CHD is unique and distinct from both the pediatric and young adult populations with CHD. Much of the information we provide is from scientific research combined with clinical experience from longitudinal care. We emphasize that this is the beginning of a discussion regarding this rapidly growing population, and continued research aimed at the progression of disease and complications reviewed here is necessary to advance the field of ACHD with the scientific rigor it deserves. ACHD encompass a broad range of presentations. There are people who are diagnosed for the first time in adulthood, as well as those with prior palliative repair …

Liver Disease in the Patient with Fontan Circulation

The Fontan procedure has undergone many modifications since first being performed on a patient with tricuspid valve atresia in 1968. It is now the procedure of choice for individuals born with single-ventricle physiology or for those in whom a biventricular repair is not feasible. Forty years of experience with the Fontan procedure have gradually revealed the shortfalls of such a circulatory arrangement. Sequelae related to the underlying congenital anomaly or to the altered physiology of passive, nonpulsatile flow through the pulmonary arterial bed can result in failure of the Fontan circulation over time. Liver abnormalities including abnormalities in the clotting cascade have been well documented in Fontan patients. The clinical significance of these findings, however, has remained poorly understood. As Fontan survivors have increased in age and number, we have begun to better recognize subclinical hepatic dysfunction and the contribution of liver disease to adverse outcomes in this population. The purpose of this review is to summarize the existing data pertaining to liver disease in the Fontan population and to identify some questions that have yet to be answered.

Intracardiac echocardiographic guidance during transcatheter device closure of atrial septal defect and patent foramen ovale.

OBJECTIVES To describe our experience with intracardiac echocardiographic (ICE) guidance during transcatheter device closure of atrial septal defect (ASD) and patent foramen ovale (PFO) and to describe a detailed stepwise approach for performing ICE examinations. PATIENTS AND METHODS We reviewed the ICE results of all patients who underwent transcatheter device closure of ASD/PFO at the Mayo Clinic in Rochester, Minn, between October 2000 and November 2002. Conscious sedation was used, and all ICE studies were performed using a diagnostic ultrasound catheter. RESULTS Ninety-four patients (47 male; median age, 51 years [range, 17-81 years]) underwent ICE during transcatheter device closure of ASD/PFO. Total procedure time was 128 minutes (range, 27-320 minutes). ICE identified a previously unrecognized anatomical diagnosis in 32 of 94 patients. An additional ASD or PFO was found in 16 patients; a redundant atrial septum or an atrial septal aneurysm was found in 12 patients. There were few ICE complications (4%): 3 patients developed atrial fibrillation, and 1 developed supraventricular tachycardia; of these 4, 2 resolved spontaneously, and 2 required cardioversion with no recurrence. CONCLUSION ICE provides anatomical detail of ASD/PFO and cardiac structures facilitating congenital cardiac interventional procedures. ICE eliminates major drawbacks related to the use of transesophageal echocardiographic guidance for transcatheter device closure of ASD/PFO, specifically problems related to airway management. Finally, ICE gives the interventional cardiologist the ability to control all aspects of imaging without relying on additional echocardiographic support. We believe that ICE should be considered the preferred imaging technique for guidance of transcatheter device closure of ASD/PFO in adults and larger pediatric patients.

Heart Rate Response During Exercise and Pregnancy Outcome in Women With Congenital Heart Disease

Background— Cardiopulmonary exercise testing is often used to evaluate exercise capacity in adults with congenital heart disease including women who are considering pregnancy. The relationship between cardiopulmonary exercise testing parameters and pregnancy outcome has not been defined. Methods and Results— We conducted a multicenter retrospective observational study of women with congenital heart disease who had undergone cardiopulmonary exercise testing within 2 years of pregnancy or during the first trimester. Cardiopulmonary exercise testing variables included peak oxygen consumption and measures of chronotropic response: peak heart rate, percentage of maximum age predicted heart rate, heart rate reserve (peak heart rate−resting heart rate), and chronotropic index [(peak heart rate−resting heart rate)/(220−age−resting heart rate)]. We identified 89 pregnancies in 83 women. There were 4 spontaneous abortions and 1 termination. One or more adverse cardiac events occurred in 18%; congestive heart failure in 14%, and sustained arrhythmia in 7%. Peak heart rate (odds ratio [OR] 0.71; 95% confidence interval [CI] [0.53, 0.94]; P=0.02), percentage of maximum age predicted heart rate (OR 0.93; 95% CI [0.88, 0.98]; P=0.01), and chronotropic index (OR 0.65; 95% CI [0.47, 0.90]; P=0.01) were associated with a cardiac event. Neonatal events occurred in 20%. Peak heart rate (OR 0.75; 95% CI [0.58, 0.98]; P=0.04), percentage of maximum age predicted heart rate (OR 0.94; 95% CI [0.89, 0.99]; P=0.02), heart rate reserve (OR 0.8; 95% CI [0.64, 0.99]; P=0.04), and chronotropic index (OR 0.73; 95% CI [0.54, 0.98]; P=0.04) correlated with a neonatal event. Peak oxygen consumption was not associated with an adverse pregnancy outcome. Conclusions— Abnormal chronotropic response correlates with adverse pregnancy outcomes in women with congenital heart disease and should be considered in refining risk stratification schemes.