Exercise Cardiac Magnetic Resonance Imaging in Boys With Duchenne Muscular Dystrophy Without Cardiac Disease.

BACKGROUND: Duchenne muscular dystrophy is caused by mutations in the DMD gene, resulting in cardiomyopathy in all affected children by 18 years. Although cardiomyopathy is now the leading cause of mortality in these children, there is ongoing debate regarding timely diagnosis, secondary prevention, and treatment of this condition. The purpose of this study was to use exercise cardiac magnetic resonance imaging in asymptomatic young boys with Duchenne muscular dystrophy to describe their heart function and compare this with healthy controls. METHODS: We studied 11 boys with Duchenne muscular dystrophy aged 8.6 to 13.9 years and 11 healthy age- and sex-matched controls. RESULTS: Compared with the controls, boys with Duchenne muscular dystrophy had lower ejection fraction at rest (57% versus 63%; P = 0.004). During submaximal exercise, they reached similar peak tachycardia but increased their heart rate and cardiac output only half as much as controls (P = 0.003 and P = 0.014, respectively). End-systolic volume remained higher in boys with Duchenne muscular dystrophy both at rest and during exercise. When transthoracic echocardiography was compared with cardiac magnetic resonance imaging, 45% of the echocardiograms had suboptimal or poor views in the Duchenne muscular dystrophy group. CONCLUSIONS: Boys with Duchenne muscular dystrophy had abnormalities in left ventricular systolic function that were exaggerated by exercise stress. Exercise cardiac magnetic resonance imaging is feasible in a select population of children with Duchenne muscular dystrophy, and it has the potential to unmask early signs of cardiomyopathy.

Giant congenital coronary artery aneurysm in pulmonary atresia with intact septum.

Congenital coronary artery fistula is frequently associated with pulmonary atresia and intact ventricular septum (PA/IVS). Aneurysmal dilatation is rare, and can be complicated by rupture, distal thrombi and myocardial ischaemia.

Imaging the heart to detect cardiomyopathy in Duchenne muscular dystrophy: A review.

Duchenne Muscular Dystrophy is the most common paediatric neuromuscular disorder. Mutations in the DMD gene on the X-chromosome result in progressive skeletal muscle weakness as the main clinical manifestation. However, cardiac muscle is also affected, with cardiomyopathy becoming an increasingly recognised cause of morbidity, and now the leading cause of mortality in this group. The diagnosis of cardiomyopathy has often been made late due to technical limitations in transthoracic echocardiograms and delayed symptomatology in less mobile patients. Increasingly, evidence supports earlier pharmacological intervention in cardiomyopathy to improve outcomes. However, the optimal timing of initiation remains uncertain, and the benefits of prophylactic therapy are unproven. Current treatment guidelines suggest initiation of therapy once cardiac dysfunction is detected. This review focuses on new and evolving techniques for earlier detection of Duchenne muscular dystrophy-associated cardiomyopathy. Transthoracic echocardiography or cardiac magnetic resonance imaging performed under physiological stress (dobutamine or exercise), can unmask early cardiac dysfunction. Cardiac magnetic resonance imaging can define cardiac function with greater accuracy and reliability than an echocardiogram, and is not limited by body habitus. Improved imaging techniques, used in a timely fashion, offer the potential for early detection of cardiomyopathy and improved long-term outcomes.

Hospital Inpatient Costs for Single Ventricle Patients Surviving the Fontan Procedure.

We estimated the inpatient resource use for a Fontan patient from birth to adulthood and explored factors that might induce cost differences (2014 US dollar). Inpatient costing records from 4 hospitals with greatest numbers of Fontan patients in Australia and New Zealand were linked with the Fontan registry database. Inpatient records between July 1995 and September 2014 for 420 Fontan patients were linked, and the most frequent primary diagnoses were hypoplastic left heart syndrome (20.7%), tricuspid atresia (19.7%), and double inlet left ventricle (17.1%). The mean hospital cost for a Fontan patient from birth to 18 years of age was estimated to be $390,601 (95% confidence interval [CI] $264,703 to $516,499), corresponding to 164 (95% CI 98 to 231) inpatient days. The cost incurred from birth through to Fontan completion (the staged procedures period) was $219,482 (95% CI $202,410 to $236,553) and the cost thereafter over 15 years was $146,820 (95% CI $44,409 to $249,231), corresponding to 82 (95% CI 72 to 92) and 65 (95% CI 18 to 112) inpatient days, respectively. Costs were higher in male and hypoplastic left heart syndrome patients in the staged procedures period (p <0.001). Having fenestration was associated with higher costs in the staged procedures period (p <0.001) and lower cost after Fontan over 15 years (p = 0.66). In conclusion, patients with single ventricle congenital heart disease continue to demand considerable inpatient resources after the staged procedures period. Over 40% of the pediatric hospital costs for Fontan patients were estimated to occur after the last planned surgery.

Relation of biventricular function quantified by stress echocardiography to cardiopulmonary exercise capacity in adults with Mustard (atrial switch) procedure for transposition of the great arteries.

BACKGROUND: Mustard repair for transposition of the great arteries (TGA) is frequently associated with impaired systemic (right) ventricular function and sometimes exercise intolerance. We hypothesized that a simple quantitative measurement of ventricular function, during rest and pharmacological stress, could identify abnormalities and predict objective exercise capacity. METHODS AND RESULTS: We quantified the performance of systemic and pulmonary (left) ventricles by using echocardiography, at rest and during dobutamine stress, in 27 adults who had undergone Mustard repair for TGA. Systolic and diastolic function of the systemic ventricle were markedly disturbed with respect to pulmonary ventricular function. We also measured exercise capacity by cardiopulmonary exercise testing for peak oxygen uptake. Exercise capacity was significantly predicted by systemic ventricular long-axis excursion both at rest (r=0.66, P<0.001) and at peak dobutamine stress (r=0.53, P=0.006) but not by pulmonary ventricular long-axis excursion at rest (r=0.04) or on stress (r=0.11). Exercise capacity was also predicted by the septal long-axis excursion at rest (r=0.61, P=0.001) but not pulmonary ventricular free wall excursion (P>0.05) or fractional shortening (P>0.05). Peak aortic velocity at maximum dobutamine stress correlated with exercise capacity (r=0.46, P=0.029) but not at rest (r=0.36). Multivariate analysis revealed systemic ventricular long-axis excursion to be the sole significant independent predictor of exercise capacity. CONCLUSIONS: Systemic ventricular function is depressed in most patients with Mustard repair. Quantitative echocardiographic evaluation shows systemic ventricular function to be a key determinant of exercise capacity.

Right ventricular function in adults with repaired tetralogy of Fallot assessed with cardiovascular magnetic resonance imaging: detrimental role of right ventricular outflow aneurysms or akinesia and adverse right-to-left ventricular interaction.

OBJECTIVES: We examined the relationship among biventricular hemodynamics, pulmonary regurgitant fraction (PRF), right ventricular outflow tract (RVOT) aneurysm or akinesia, and baseline and surgical characteristics in adults with repaired tetralogy of Fallot (rTOF). BACKGROUND: The precise relationship of pulmonary regurgitation with biventricular hemodynamics has been hampered by limitations of right ventricular (RV) imaging. METHODS: We assessed 85 consecutive adults with rTOF and 26 matched healthy controls using cardiovascular magnetic resonance imaging. RESULTS: Patients had higher right ventricular end-diastolic volume index (RVEDVi) (p < 0.001), right ventricular end-systolic volume index (RVESVi) (p < 0.001), right ventricular mass index (RVMi) (p < 0.001), and lower right ventricular ejection fraction (RVEF) (p < 0.001) and left ventricular ejection fraction (LVEF) (p = 0.002) compared to controls. The PRF (range 0% to 55%) independently predicted RVEDVi (p < 0.01) and the latter predicted RVESVi (p < 0.01) and RVMi (p < 0.01). The RVOT aneurysm/akinesia was present in 48/85 (56.9%) of patients and predicted RV volumes (RVEDVi, p = 0.01, and RVESVi, p = 0.03). There was a negative effect of RVOT aneurysm/akinesia and RVMi on RVEF (p < 0.01 and p = 0.02, respectively). There was only a tendency among patients with transannular or RVOT patching toward RVOT aneurysm/akinesia (p = 0.09). The LVEF correlated with RVEF (r = 0.67, p < 0.001). CONCLUSIONS: Pulmonary regurgitation and RVOT aneurysm/akinesia were independently associated with RV dilation and the latter with RV hypertrophy late after rTOF. The RVOT aneurysm/akinesia was common but related only in part to RVOT or transannular patching. Both RV hypertrophy and RVOT aneurysm/akinesia were associated with lower RVEF. Left ventricular systolic dysfunction correlated with RV dysfunction, suggesting an unfavorable ventricular-ventricular interaction. Measures to maintain or restore pulmonary valve function and avoid RVOT aneurysm/akinesia are mandatory for preserving biventricular function late after rTOF.

Comparison of equilibrium radionuclide ventriculography with cardiovascular magnetic resonance for assessing the systemic right ventricle after Mustard or Senning procedures for complete transposition of the great arteries.

We assessed the utility of equilibrium radionuclide ventriculography for assessing function of the systemic right ventricle by comparing it with cardiovascular magnetic resonance (CMR) in subjects who had undergone the Mustard or Senning operations for complete transposition of the great arteries. The 95% limits of agreement for right ventricular ejection fraction by the 2 techniques were 15.8% to -16.0%, demonstrating that equilibrium radionuclide ventriculography has good agreement with CMR and provides a good alternative in cases in which CMR is not available or appropriate.

Transposition complexes in the adult: a changing perspective.

This study has shown the heterogeneous group of patients with discordant ventricular arterial relations, their management and problems encountered during follow up. Patients after surgery for transposition are still relatively young by cardiology standards and their problems continue to evolve; nevertheless the future is becoming clearer. However there are still important lessons to be learnt by continued and diligent observation and systematic, multicenter research. It is important to maintain a low threshold for thorough re-evaluation of patients whenever new symptoms are discovered. Indeed, patients should undergo regular detailed investigations at timely intervals. It is vital that this evolving group of adult patients, as with most patients emerging from a childhood with other congenital heart malformations, is managed by cardiologists fully trained in congenital heart disease.

Systolic and diastolic abnormalities reduce the cardiac response to exercise in adolescents with type 2 diabetes.

OBJECTIVE: To better understand the cardiac limitations during exercise in adolescents with type 2 diabetes mellitus (T2DM), we measured left ventricular performance with magnetic resonance imaging (MRI) during exercise in diabetic and nondiabetic adolescents. RESEARCH DESIGN AND METHODS: Thirteen subjects with T2DM, 27 overweight/obese nondiabetic (ObeseND) subjects, and 19 nondiabetic nonobese control subjects were recruited. Cardiac (left ventricular) MRI scans were performed at rest and during submaximal exercise. RESULTS: Vo2 peak indexed to fat-free mass was reduced in T2DM and ObeseND subjects compared with control subjects (P < 0.0001). Indexed cardiac output increased less during exercise and was 20% lower in T2DM subjects due to reduced stroke volume. This was a consequence of reduced ventricular filling with smaller end-diastolic volume, which decreased further during exercise in T2DM subjects, but not in ObeseND or control subjects. End-systolic volume was also smaller in T2DM subjects. These changes were associated with increased resting and exercise diastolic blood pressure, and total peripheral resistance in T2DM subjects. CONCLUSIONS: Independently of obesity, T2DM impairs cardiac function during exercise in adolescents.