Karen K. Stout

The Bicuspid Aortic Valve: An Integrated Phenotypic Classification of Leaflet Morphology and Aortic Root Shape

Objective: To establish a classification of bicuspid aortic valve (BAV) that includes both leaflet morphology and aortic shape. Setting: Two academic medical centres of the University of Washington, Seattle. Patients: 191 adult patients with BAV. Interventions: Review of clinical data and transthoracic echocardiograms. Main outcome measures: Assessment of leaflet morphology; valve function; aortic shape and dimensions. Results: We identified three morphologies: type 1, fusion of right and left coronary cusp (n = 152); type 2, right and non-coronary fusion (n = 39); and type 3, left and non-coronary fusion (n = 1). Comparing type 1 and 2 BAV, there were no significant differences in age, height, weight, blood pressure or aortic valve function. Type 1 was more common in men (69 vs 45%). The aortic sinuses were larger in type 1, while type 2 had larger arch dimensions. Myxomatous mitral valves were more common in type 2 BAV (13% vs 2.6%, p<0.05). Three aortic shapes were defined: normal (N), sinus effacement (E), and ascending dilatation (A). Comparing type 1 to type 2 BAV, shape N was more common in type 1 (60% vs 32%), and type A was more common in type 2 (35% vs 54%,); type E was rare (p<0.01 across all groups). Conclusion: A comprehensive BAV phenotype includes aortic shape. Type 1 BAV is associated with male gender and normal aortic shape but a larger sinus diameter. Type 2 leaflet morphology is associated with ascending aorta dilatation , larger arch dimensions and higher prevalence of myxomatous mitral valve disease.

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.

Chronic Heart Failure in Congenital Heart Disease: A Scientific Statement from the American Heart Association

### Introduction The past 60 years have brought remarkable advancements in the diagnosis and treatment of congenital heart disease (CHD). Early diagnosis and improvements in cardiac surgery and interventional cardiology have resulted in unprecedented survival of patients with CHD, even those with the most complex lesions. Despite remarkable success in treatments, many interventions are palliative rather than curative, and patients often develop cardiac complications, including heart failure (HF). HF management in the setting of CHD is challenged by the wide range of ages at which HF occurs, the heterogeneity of the underlying anatomy and surgical repairs, the wide spectrum of HF causes, the lack of validated biomarkers for disease progression, the lack of reliable risk predictors or surrogate end points, and the paucity of evidence demonstrating treatment efficacy. The purposes of this statement are to review the literature pertaining to chronic HF in CHD and to elucidate important gaps in our knowledge, emphasizing the need for specific studies of HF mechanisms and improving outcomes for those with HF. In this document, the definition of CHD severity is the definition common in CHD documents, including the American College of Cardiology (ACC)/American Heart Association (AHA) guidelines1 for the management of adults with CHD (Table 11–3). The definition of HF corresponds to that found in the multiple guidelines on diagnosis and management of HF. Although nuances and specific details may be controversial,4 the broad definition from the Heart Failure Society of America guidelines states the following: “In physiologic terms, HF is a syndrome characterized by either or both pulmonary and systemic venous congestion and/or inadequate peripheral oxygen delivery, at rest or during stress, caused by cardiac dysfunction.”5 The definition of chronic HF in this document concurs with that of the European Society of Cardiology guidelines, which emphasize chronic HF …

Accuracy of ECG interpretation in competitive athletes: the impact of using standardised ECG criteria

Background Interpretation of ECGs in athletes is complicated by physiological changes related to training. The purpose of this study was to determine the accuracy of ECG interpretation in athletes among different physician specialties, with and without use of a standised ECG criteria tool. Methods Physicians were asked to interpret 40 ECGs (28 normal ECGs from college athletes randomised with 12 abnormal ECGs from individuals with known ciovascular pathology) and classify each ECG as (1) ‘normal or variant – no further evaluation and testing needed’ or (2) ‘abnormal – further evaluation and testing needed.’ After reading the ECGs, participants received a two-page ECG criteria tool to guide interpretation of the ECGs again. Results A total of 60 physicians participated: 22 primary care (PC) residents, 16 PC attending physicians, 12 sports medicine (SM) physicians and 10 ciologists. At baseline, the total number of ECGs correctly interpreted was PC residents 73%, PC attendings 73%, SM physicians 78% and ciologists 85%. With use of the ECG criteria tool, all physician groups significantly improved their accuracy (p<0.0001): PC residents 92%, PC attendings 90%, SM physicians 91% and ciologists 96%. With use of the ECG criteria tool, specificity improved from 70% to 91%, sensitivity improved from 89% to 94% and there was no difference comparing ciologists versus all other physicians (p=0.053). Conclusions Providing standised criteria to assist ECG interpretation in athletes significantly improves the ability to accurately distinguish normal from abnormal findings across physician specialties, even in physicians with little or no experience.

Acute Valvular Regurgitation

Acute severe valvular regurgitation is a surgical emergency, but accurate and timely diagnosis can be difficult. Although cardiovascular collapse is a common presentation, examination findings to suggest acute regurgitation may be subtle, and the clinical presentation may be nonspecific. Consequently, the presentation of acute valvular regurgitation may be mistaken for other acute conditions, such as sepsis, pneumonia, or nonvalvular heart failure. Although acute regurgitation may affect any valve, acute regurgitation of the left-sided valves is more common and has greater clinical impact than acute regurgitation of right-sided valves. Data to guide appropriate management of patients with acute regurgitation are sparse; there are no randomized trials, and much of the literature describes either small series or the experiences of specific centers. Despite these limitations, the available data are sufficient to allow identification of general principles as well as development of applicable guidelines from both the American College of Cardiology/American Heart Association and European Society of Cardiology. The guidelines recommend valve surgery for symptomatic patients with aortic or mitral regurgitation, including those with acute regurgitation.1–3 The data and guidelines emphasize overarching clinical principles, including the need for a high clinical suspicion of acute regurgitation, timely use of echocardiography, and, in the majority of patients, rapid progression to surgery. Causes of acute regurgitation overlap with causes of chronic regurgitation and vary depending on the valve affected (Table 1). Endocarditis may affect either the aortic or mitral valve, whereas other causes are unique to the specific valve involved. The majority of causes of acute regurgitation present as an acute or subacute event. However, acute regurgitation can occur in patients with chronic regurgitation, when regurgitant severity is exacerbated by factors such as coronary ischemia, chordal rupture, or leaflet perforation from endocarditis. Acute regurgitation of either the aortic or mitral valve may result from procedural …

Pregnancy in women with valvular heart disease

Patients with valvular disease who desire pregnancy or are already pregnant require specialised care. Ideally, women undergo preconceptual counselling that addresses any procedures needed to decrease the risks of pregnancy, including valve replacement, if the patient has symptoms at baseline. Management during pregnancy includes replacing any contraindicated medications with safer alternatives, optimising loading conditions, careful monitoring and aggressive treatment of any exacerbating factors. Rarely, percutaneous or surgical intervention is required during pregnancy. Labour and delivery often require invasive haemodynamic monitoring and a multi-disciplinary team for optimal maternal and fetal outcomes.

Transplantation and Mechanical Circulatory Support in Congenital Heart Disease: A Scientific Statement From the American Heart Association.

Dramatic evolution in the medical and surgical care of children with congenital heart disease (CHD) has led to a growing number of adults with late-onset complications, including heart failure (HF).1 In parallel with an overall increase in hospital admissions for adults with CHD (ACHD) and HF,2 CHD complexity has increased substantially in survivors over the past 2 decades.3 Heart transplant (HTx) specialists face the challenge of determining eligibility for advanced HF treatments among an increasingly complex population of CHD patients in whom guidelines for HTx and mechanical circulatory support (MCS) are scant. The purpose of this review is to provide a state-of-the-art update on HTx and MCS in CHD. HTx remains the surgical procedure of choice for eligible patients with severe advanced HF,4,5 with little change in the number of transplants performed yearly over the past decade. The body of information related to transplantation for CHD is derived almost entirely from registry and single-center–based outcome data; no randomized clinical trial or meta-analysis data are available. CHD presents additional challenges to successful HTx compared with HTx in patients with acquired HF. Many CHD patients require complex vascular reconstruction at the time of transplantation. The presence of antibodies to human leukocyte antigen (HLA) and ABO blood group sensitization are also impediments to timely transplantation. The ability of patients with single-ventricle physiology to survive during the waiting period is also limited by the additional burden of “outgrowing” their pulmonary blood flow and the resultant cyanosis. It is not surprising that CHD remains a risk factor during the waiting period and after transplantation. Therefore, although the management of the CHD patient with end-stage HF must include the option of HTx, its indication and timing are very different from that for acquired HF. Patients with ACHD represent an increasing …

The care of adults with congenital heart disease across the globe: Current assessment and future perspective: A position statement from the International Society for Adult Congenital Heart Disease (ISACHD)

The number of adults with congenital heart disease (CHD) has increased markedly over the past few decades as a result of astounding successes in pediatric cardiac care. Nevertheless, it is now well understood that CHD is not cured but palliated, such that life-long expert care is required to optimize outcomes. All countries in the world that experience improved survival in CHD must face new challenges inherent to the emergence of a growing and aging CHD population with changing needs and medical and psychosocial issues. Founded in 1992, the International Society for Adult Congenital Heart Disease (ISACHD) is the leading global organization of professionals dedicated to pursuing excellence in the care of adults with CHD worldwide. Recognizing the unique and varied issues involved in caring for adults with CHD, ISACHD established a task force to assess the current status of care for adults with CHD across the globe, highlight major challenges and priorities, and provide future direction. The writing committee consisted of experts from North America, South America, Europe, South Asia, East Asia, and Oceania. The committee was divided into subgroups to review key aspects of adult CHD (ACHD) care. Regional representatives were tasked with investigating and reporting on relevant local issues as accurately as possible, within the constraints of available data. The resulting ISACHD position statement addresses changing patterns of worldwide epidemiology, models of care and organization of care, education and training, and the global research landscape in ACHD.

Management of Pregnancy in Patients With Complex Congenital Heart Disease: A Scientific Statement for Healthcare Professionals From the American Heart Association

Today, most female children born with congenital heart disease will reach childbearing age. For many women with complex congenital heart disease, carrying a pregnancy carries a moderate to high risk for both the mother and her fetus. Many such women, however, do not have access to adult congenital heart disease tertiary centers with experienced reproductive programs. Therefore, it is important that all practitioners who will be managing these women have current information not only on preconception counseling and diagnostic evaluation to determine maternal and fetal risk but also on how to manage them once they are pregnant and when to refer them to a regional center with expertise in pregnancy management.

Accuracy of Knowledge-Based Reconstruction for Measurement of Right Ventricular Volume and Function in Patients With Tetralogy of Fallot

We tested the accuracy and reproducibility of knowledge-based reconstruction (KBR) for measuring right ventricular (RV) volume and function. KBR enables rapid assessment of the right ventricle from sparse user input by referencing a database. KBR generates a 3-dimensional surface to fit points that the user enters at anatomic landmarks. We measured the RV volume using KBR from magnetic resonance images in 20 patients with repaired tetralogy of Fallot at end-diastole and end-systole. We entered points in the long- and short-axis and/or oblique views. The true volume was computed by manually tracing the RV borders for 3-dimensional reconstruction using the piecewise smooth subdivision surface method. The reference database included 54 patients with tetralogy of Fallot patients. The KBR values agreed closely with the true values for the end-diastolic volume (r = 0.993), end-systolic volume (r = 0.992), and ejection fraction (EF; r = 0.930). KBR slightly overestimated the end-diastolic volume (4 +/- 10 ml, p = NS), end-systolic volume (1 +/- 9 ml, p = NS), and EF (4 +/- 3%, p = NS). No bias in the error was found by Bland-Altman analysis (p = NS for end-diastolic and end-systolic volume and EF). The KBR volumes had approached the true volumes (235 +/- 93 vs 243 +/- 93, p = 0.012, r = 0.978 for end-diastolic and end-systolic volumes combined) already after the first run and the entry of 19 +/- 3 points. In conclusion, KBR provided accurate measurement of the RV volume and EF with minimal user input. KBR is a clinically feasible alternative to full manual tracing of the heart borders from imaging data.