Search

Varied detection methods have resulted in conflicting reports on the prevalence of cardiac disease in Duchenne and Becker muscular dystrophy carriers (MDC).We performed a prospective cohort study of 77 genetically-confirmed MDC mothers, 22 non-carrier mothers, and 25 controls. All participants underwent Cardiopulmonary Exercise Testing (CPET) and Cardiac Magnetic Resonance imaging (CMR).25% of carriers had ventricular ectopy in recovery of exercise (RecVE) as compared to 1 non-carrier and no controls (p = .003). No difference in age or maximal oxygen consumption was noted. 11 carriers had abnormal (55%) left ventricular ejection fraction by CMR. Evidence of late gadolinium enhancement (LGE) was noted in 48% of MDC, 1 non-carrier patient and no control subjects (p .0001). Subset analysis of LGE+ and LGE- subjects revealed differences in age (44.1 v 38.6 yrs.; p = .005), presence of RecVE, (38.9% v 10.5%, p = .004), and high serum creatine kinase (CK) (289 U/l; 52.8% v 31.6%, p = .065).We describe the prevalence of disease using CPET and CMR in genetically-proven MDC. 49% of carriers had fibrosis, opposed to 5% of non-carriers, highlighting the importance of genetic testing in this population. Despite cardiomyopathy, functional assessment by treadmill was normal, illustrating the discrepancy in cardiac and skeletal muscle impacts. Age, RecVE and serum CK appear to have an important role in predicting cardiomyopathy. Serum CK levels suggest that a systemic higher global disease severity and not tissue heterogeneity may be the etiology for greater cardiac disease and relatively spared skeletal muscle disease in this population. Clinical Trial Registration https://clinicaltrials.gov/ct2/show/NCT02972580?term=mendellcond=Duchenne+Muscular+Dystrophyrank=5; ClinicalTrials.gov Identifier: NCT02972580.

The health-related quality of life and emotional distress among mothers of sons with Duchenne or Becker muscular dystrophies (n = 82) were compared to sex- and age group–matched controls (n = 26). Participants self-reported health-related quality of life for themselves and their son(s), emotional distress, and mood/anxiety-related medication. Mothers reported poorer health-related quality of life across all domains of their health-related quality of life, as well as higher levels of emotional distress. Clinically elevated symptoms of anxiety were reported by 39% of mothers. Mothers’ report of poorer health-related quality of life for their son(s) was a significant predictor of worse health-related quality of life and emotional distress for themselves across most domains. Additionally, older age of mothers predicted greater energy/less fatigue and lower levels of anxiety. Results highlight the need for screening emotional distress among mothers, as well as consideration for accessible interventions to improve the psychosocial functioning among these families.

Adults with a Fontan palliation are known to have Fontan-associated liver disease (FALD). Traditional markers of liver dysfunction, however, have not correlated with the degree of FALD. Based upon the role of the liver in glucose homeostasis, we sought to determine if insulin sensitivity may be a

Patients with Duchenne muscular dystrophy suffer debilitating muscle destruction, resulting in loss of ambulation, diminished respiratory function, gastrointestinal disturbances and cardiomyopathy. Although it is the most common cause of death in these patients, cardiomyopathy is poorly understood in terms of distinct pathogenesis, natural history, and specific, effective therapeutic interventions. We review the state-of-the-art knowledge of Duchenne muscular dystrophy-associated cardiomyopathy including clinical evaluation, imaging, medical and perioperative management, and prospects for gene therapy. We also review cardiomyopathy in heterozygote carriers. By describing our current understanding and best practices, we hope to improve harmonization of care across institutions and identify collective knowledge gaps to guide future research efforts.

BACKGROUND Improved neuromuscular and respiratory therapies have altered the natural history of Duchenne muscular dystrophy (DMD) such that the most common cause of mortality is progressive cardiomyopathy. Despite imaging evidence of progressive cardiomyopathy, troponin I (cTn) is not significantly elevated in asymptomatic DMD patients. RESULTS We describe eight boys with DMD evaluated for acute chest pain (ACP) and found to have acute cTn elevation with depressed left ventricular ejection fraction (LVEF). Of our eight patients, five presented with a primary complaint of ACP, while three presented with secondary myocardial injury in the context of systemic illness requiring hospitalization. Electrocardiograms showed diffuse ST changes and mean peak cTn level was 44±15.4 ng/mL (reference range

Graphical abstract, Highlights • Adult congenital patients with tetralogy of Fallot require life long follow-up. • Early left ventricular dysfunction in repaired tetralogy of Fallot warrants evaluation. • Multimodality imaging should be used when unusual echocardiography findings are present.

Lack of defined parameters and varied detection methods have resulted in a broad range of predictions on the prevalence of cardiac disease in carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Prior studies have been small retrospective samples without genotype confirmation. No study

We report a case of outflow tract ventricular septal defect (VSD) manifesting in adulthood with aortic and pulmonary valve infective endocarditis (IE) from Gemella morbillorum. A 33-year-old male presented with fever, night sweats, fatigue, and dyspnea for 4 months. Exam showed a loud to-and-fro

Bicuspid aortic valve (BAV) is the most common type of congenital heart defect (CHD) and is associated with clinically significant cardiovascular complications including valve calcification and ascending aortopathy (AscAo), predominantly occurring in adulthood. While a limited number of genetic etiologies for BAV have been defined, family members of affected individuals display BAV along with other left-sided CHD. This has led to guidelines from the American Heart Association and American College of Cardiology that recommend echocardiographic screening of first-degree relatives of affected adults. While potentially beneficial in adults, the yield of such screening in children is unknown. The purpose of this study was to investigate a cohort of children with familial BAV to determine the frequency of development of AscAo, and to identify risk factors that contribute to abnormal aortic growth. Echocardiograms over a 10-year follow-up period were reviewed on 26 patients with familial BAV [22 male, 4 female; 22 with isolated BAV, 6 with BAV and aortic coarctation (CoA)]. All had a family history of CHD and were recruited from 2005 to 2010 as part of a genetics research study. Four aortic segments (annulus, root, sinotubular junction, ascending aorta) on parasternal long-axis echocardiographic images were measured by a single observer. The mean age at first echocardiogram was 7.1 ± 5.5 and that was 13.8 ± 6.2 years at the last echocardiogram. Only patients with > 2 echocardiograms in the 10-year period were included. Z score measurements of the aorta were plotted over time and based on these the cohort was divided into two groups: Group 1 (abnormal)—Z score for any segment > 2 or a change in Z score > 2 over follow-up; Group 2 (normal)—Z score

The objective of this study is to investigate cognitive and attentional function in adolescents and young adults with operated congenital heart disease. Previous research has indicated that children with congenital heart disease have deficits in broad areas of cognitive function. However, less attention has been given to survivors as they grow into adolescence and early adulthood. The participants were 18 non-syndromic adolescents and young adults with tetralogy of Fallot and d-transposition of the great arteries that required cardiac surgery before the age of 5 years, and 18 healthy, unaffected siblings (11-22 years of age for both groups). Cases with congenital heart disease and their siblings were administered Wechsler Intelligence scales and reported attention problems using the Achenbach System of Empirically Based Assessments. Cases were compared to both healthy siblings and established norms. Cases performed significantly lower than siblings on full scale IQ and processing speed, and significantly lower than norms on perceptual reasoning. Cases also reported more attention problems compared to both siblings and norms. Effect sizes varied with medium-to-large effects for processing speed, perceptual reasoning, working memory, and attention problems. Findings suggest that neurocognitive function may continue to be affected for congenital heart disease survivors in adolescence and young adulthood, and that comparisons to established norms may underestimate neurocognitive vulnerabilities.

Aims Patients with D-loop transposition of the great arteries (D-TGA) status post intra-atrial baffling are at an increased risk for sudden cardiac arrest. The benefit of primary implantable cardioverter-defibrillator (ICD) implantation in these patients is questionable due to high burden of adverse events. We aimed to evaluate the incidence and causes of all types of device shocks, as well as of device-related complications among patients with D-TGA implanted with ICDs for primary prevention. Methods and results Retrospective analysis of all patients with D-TGA who underwent atrial switch procedure and ICD implantation for primary prevention. Eighteen patients (83% males) were identified. Average age at atrial switch was 2.5 years (range 0.1–17) and at ICD implantation 26 years (15–41). During a median follow-up of 4 years, 10 patients (55%) received shocks for non-ventricular arrhythmic events, whereas 1 patient was shocked for ventricular tachycardia, for an annual rate of shock delivery of 7.1%. The most common cause for shock delivery was the occurrence of atrial arrhythmias, mostly in the form of atrial flutter. Elevated systemic ventricular end-diastolic pressures were found to be associated with an increased risk for inappropriate shocks. Five patients (28%) required lead extraction and three required generator change due to device recalls during follow-up. Conclusion Atrial arrhythmias were the most common cause for ICD shocks in a primary prevention population, while ventricular tachycardia was infrequent. The association between elevated end-diastolic pressures and the occurrence of arrhythmias demonstrates the close mechano-electrical relationship in D-TGA and may be an important predictor of arrhythmic events.

10540Background: Patients who receive radiation and cardiotoxic chemotherapy are predisposed to heart failure and coronary artery disease. Consensus statements recommend baseline echocardiogram wit...

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.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.Women with heart disease were more likely than control subjects to undergo induction of labour (P0.001). 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%, P0.001) 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.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.

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

The right ventricular (RV) systolic function is important for decision making in adults with repaired tetralogy of Fallot (rTOF). Our aim was to assess regional RV systolic function and its impact on global RV systolic function by echocardiography.In 101 adults with rTOF, regional RV systolic function on echocardiography was compared to 50 individuals with structurally normal hearts. In patients with rTOF, the impact of echocardiographic measures of regional RV systolic function on global RV-ejection fraction as measured by cardiac magnetic resonance imaging (CMR-RVEF) was determined.Compared to normals, patients with rTOF had impaired systolic function of the RV outflow tract. Patients with rTOF and normal CMR-RVEF compensate this loss of RV outflow tract function with increased contractions of the RV-body, measured as fractional area change on short axis (30±12% versus 19±7%, p0.0001) and on 4-chamber views (42±7% versus 38±8%, p=0.06). In contrast, patients with rTOF and abnormal global CMR-RVEF showed significantly lower systolic function of the RV-body compared to normal controls (fractional area change on 4-chamber view: 31±6% versus 38±8%, p0.0001). A simple regression model, incorporating fractional shortening of RV outflow tract and fractional area change on 4-chamber view allows accurate echocardiographic estimation of the CMR-derived RVEF.Patients with repaired tetralogy of Fallot have markedly different regional systolic RV-function compared to normals, even when the global RV systolic function is preserved. The systolic function of the RV outflow tract and of the RV body are both important determinants of global systolic RV function in these patients. Their prognostic significance needs to be determined.

Background The aim of this study was to develop a mathematical model using two-dimensional echocardiographic parameters to estimate right ventricular end-diastolic volume (RVEDVi) in adults with repaired tetralogy of Fallot. Methods Linear regression equations were used to examine the relationship between two-dimensional echocardiographic and cardiac magnetic resonance (CMR) imaging measures of RVEDVi. Imaging studies in 101 adults were used to create and validate the model. The ability of the model to detect changes in CMR RVEDVi was tested in 57 adults with serial studies. Results The optimal model to quantitate CMR RVEDVi included two-dimensional echocardiographic right ventricular end-diastolic area measured in the apical four-chamber view, indexed to body surface area (AreaDi) (CMR RVEDVi=11.5 + [7 × AreaDi]). The model reliably allowed the detection of stable and changing CMR RVEDVi (κ = 0.84 and κ = 0.82, respectively, P Conclusion Quantitative assessment of right-ventricular volumes by echocardiography is feasible and may be used for serial follow-up in patients with contraindications for CMR.

In 1965, Angelman described 3 cases of what he called "Puppet" children, named for the characteristic signs associated with what is now known as Angelman syndrome, including mental retardation, speech impairment, easy excitability, and frequent spontaneous laughter.(1) Since that report, much progress has been made in defining the syndrome's clinical manifestations and understanding its molecular foundations, including identification of deletions of 15q11-13 in some patients. There are few reports in the ophthalmic literature regarding ocular manifestations of this syndrome. (2,3) We present the case of a child with strabismus associated with Angelman syndrome, and we review the ophthalmic and systemic findings, as well as recent advances in molecular genetics, in these patients.

The aim of this study was to compare entoptic perimetry, using conventional television, to Amsler grid and patient-reported visual loss for the detection of functional diabetic maculopathy and macular edema.Observational case series.A single eye from each of 104 consecutive patients with diabetes in an academic retina clinic.Each eye was screened by Amsler grid, entoptic perimetry, and Humphrey 10-2 threshold visual field testing (HVF 10-2; Humphrey Instruments Inc., San Leandro, CA) in random order. Eyes were then examined clinically.The presence or absence of new visual decline since the patient's last clinical examination, the presence or absence of central visual field abnormalities using an Amsler grid, entoptic perimetry, HVF 10-2, and the presence or absence of clinically significant macular edema (CSME).The sensitivities and specificities for the detection of central diabetic scotomas as evidenced by HVF 10-2 abnormalities were: subjective impression, 31 of 90 eyes (34.4%) and 11 of 14 eyes (78.6%); Amsler grid, 29 of 90 eyes (32.2%) and 13 of 14 eyes (92.9%); and entoptic perimetry, 58 of 90 eyes (64.4%) and 11 of 14 eyes (78.6%). Entoptic perimetry was statistically more sensitive than both subjective impression (P0.001) and Amsler grid (P0.001), but the specificities were statistically indistinguishable. The sensitivities and specificities for the detection of CSME were: subjective impression, 6 of 24 eyes (25.0%) and 52 of 80 eyes (65.0%); Amsler grid, 9 of 24 eyes (37.5%) and 59 of 80 eyes (73.8%); and entoptic perimetry, 17 of 24 eyes (70.8%) and 44 of 80 (55.0%) eyes. These results are also statistically significant, with entoptic perimetry being more sensitive and less specific than both subjective impression (P = 0.007 and P = 0.011, respectively) and Amsler grid (P = 0.008 and P0.001, respectively) in this subset of patients.Entoptic perimetry is 87% more sensitive than the subjective impression of visual decline (P0.001) and 100% more sensitive than Amsler grid (P0.001) for the detection of central scotomas in diabetic patients. For the detection of CSME, entoptic perimetry is 183% more sensitive than subjective impression (P = 0.007) and 89% more sensitive than Amsler grid (P = 0.008). Hence, entoptic perimetry, performed using conventional television, has the potential to be an effective, inexpensive, and widespread adjunct to surveillance examinations for the early detection of diabetic maculopathy.