Multisystem Inflammatory Syndrome in Children - Characteristics, Therapies, and Outcomes

Multisystem Inflammatory Syndrome in Children (MIS-C) is a condition characterized by severe organ system inflammation and shock, presenting approximately 4-6 weeks after infection with the virus SARS-CoV-2. This disease was first identified in April 2020 and appears to be one of the most severe forms of disease associated with COVID-19 in children. A single-center retrospective study was performed on a cohort of patients diagnosed with MIS-C at Children\u27s Hospital and Medical Center in Omaha. A variety of data--including patient demographics, hospital course, treatments, and long-term cardiac outcomes--were analyzed to better understand MIS-C as an emerging disease.https://digitalcommons.unmc.edu/surp2021/1006/thumbnail.jp

Early Systolic Dysfunction and Impact of Gene Mutation Severity in Marfan Syndrome

Background Marfan syndrome is caused by a mutation in the fibrillin-1 gene that manifests with a variety of features including aortic root dilation. Recent research has identified a primary cardiomyopathy in patients with Marfan syndrome, hypothesized to be due to the presence of abnormal fibrillin-1 in the myocardium. Controversy over the nature and significance of this cardiomyopathy remains. Echocardiographic measurement of the first-phase of ejection (defined as the beginning of systole to peak aortic valve flow) may be more sensitive to systolic dysfunction and provide useful clinical information. The purpose of this study is to: Assess systolic dysfunction in patients with Marfan syndrome Describe first-phase fractional area change (FAC1) in patients with Marfan syndrome and determine how it varies between Marfan syndrome patients and a control group Verify there is a difference in propensity for cardiomyopathy in mild vs severe gene mutation Marfan syndrome patients not secondary to increased aortic stiffness Methods Patients were identified from a pre-existing list of patients with Marfan syndrome maintained by the Children\u27s Hospital and Medical Center and University of Nebraska Medical Center. All relevant medical records were reviewed. Echocardiographic parameters will include left ventricular (LV) ejection fraction, LV FAC1, LV end-diastolic volume, global longitudinal strain, aortic root diameter, and aortic stiffness. Patients were excluded if they have more than mild aortic insufficiency or mitral valve regurgitation. Neonatal Marfan syndrome patients and patients with other significant congenital heart disease will also be excluded. Statistical analysis of the data will be performed including basic statistical tests, univariate regression, and multivariate regression to compare data from each group. P values will be calculated and a p value \u3c 0.05 will be considered statistically significant. Results At the time of writing, 126 patients with Marfan syndrome have been identified. 44 were excluded based on significant mitral or aortic valve disease, prior cardiovascular surgery, or poor echocardiographic image quality. Of the 82 patients not excluded, genetic testing results are available for 59 and are being categorized to allow for statistical analysis. Echocardiographic measurements are underway.https://digitalcommons.unmc.edu/chri_forum/1002/thumbnail.jp

Long Term Outcome of Childhood Bicuspid Aortic Valve

The most common congenital heart defect is a bicuspid aortic valve (BAV), which is often genetic and the cause is unknown. The defect occurs in only 1% of the general population. A BAV is not able to fully stop blood from leaking back into the heart, which is known as aortic regurgitation. Another common issue with a BAV is that it may be too stiff to fully open, which is known as aortic stenosis. In early childhood, children with aortic stenosis often need palliation with a balloon or surgical valvotomy. As these children develop, they may need subsequent, more definitive procedures such as a Ross procedure, insertion of a tissue valve or mechanical valve, or a valve repair. These definitive operations are used to address recurrent aortic stenosis or regurgitation. As a result, comparing the long-term complications of valve interventions in infancy was an area of considerable interest. The goal of this study was to compare whether one procedure is more effective in providing a more functional status in adulthood since comparative data on the morbidity and mortality associated with each definitive repair in a contemporaneous cohort is lacking. Clinical evidence suggests that repeat surgical procedures are very common in all surgical interventions for bicuspid aortic valve with aortic stenosis in childhood. Incidences of a greater number of aortic valve surgery is associated with a higher incidence of surgical complications and endocarditis. Long-term follow up on the odds of a composite adverse outcome are less with a Ross procedure.https://digitalcommons.unmc.edu/surp2021/1011/thumbnail.jp

Williams Syndrome and Neonatal Cardiac Surgery for Congenital Single Ventricle

Williams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis and branch pulmonary stenosis. We describe double-outlet right ventricle with mitral atresia and aortic arch hypoplasia in an infant with WS. This case demonstrates the difficulty in managing patients with WS with complex cardiac defects. To our knowledge, this is the first reported single-ventricle physiology in a patient with WS. (Level of Difficulty: Advanced.)

Pregnancy outcomes in women with aortic coarctation

OBJECTIVE Pregnancy in women with aortic coarctation (CoA) has an estimated moderately increased risk (mWHO II-III) of adverse cardiovascular, obstetric or fetal events, but prospective data to validate this risk classification are scarce. We examined pregnancy outcomes and identified associations with adverse outcomes. METHODS Pregnancies in women with CoA were selected from the worldwide prospective Registry of Pregnancy and Cardiac Disease (ROPAC, n=303 out of 5739), part of the European Society of Cardiology EURObservational Research Programme. The frequency of and associations with major adverse cardiac events (MACE) and hypertensive disorders (pregnancy-induced hypertension, (pre-)eclampsia or haemolysis, elevated liver enzymes and low platelets syndrome) were analysed. RESULTS Of 303 pregnancies (mean age 30 years, pregnancy duration 39 weeks), 9.6% involved unrepaired CoA and 27.1% were in women with pre-existing hypertension. No maternal deaths or aortic dissections occurred. MACE occurred in 13 pregnancies (4.3%), of which 10 cases were of heart failure (3.3%). Univariable associations with MACE included prepregnancy clinical signs of heart failure (OR 31.8, 95% CI 6.8 to 147.7), left ventricular ejection fraction 1 (OR 11.4, 95% CI 3.6 to 36.3) and cardiac medication use (OR 4.9, 95% CI 1.3 to 18.3). Hypertensive disorders of pregnancy occurred in 16 (5.3%), cardiac medication use being their only predictor (OR 3.2, 95% CI 1.1 to 9.6). Premature births were 9.1%, caesarean section was performed in 49.7% of pregnancies. Of 4 neonatal deaths, 3 were after spontaneous extreme preterm birth. CONCLUSIONS The ROPAC data show low MACE and hypertensive disorder rates during pregnancy in women with CoA, suggesting pregnancy to be more safe and better tolerated than previously appreciated

Features of Marfan syndrome not listed in the Ghent nosology : the dark side of the disease

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome

Medium-Term Complications Associated With Coronary Artery Aneurysms After Kawasaki Disease: A Study From the International Kawasaki Disease Registry.

Background Coronary artery aneurysms (CAAs) may occur after Kawasaki disease (KD) and lead to important morbidity and mortality. As CAA in patients with KD are rare and heterogeneous lesions, prognostication and risk stratification are difficult. We sought to derive the cumulative risk and associated factors for cardiovascular complications in patients with CAAs after KD. Methods and Results A 34-institution international registry of 1651 patients with KD who had CAAs (maximum CA

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management. Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed. All patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary, or stroke complications, or unknown causes. Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications