We are continuing to learn about the multisystem inflammatory syndrome in children (MIS-C) associated with SARS-CoV-2 infection. There are many published studies regarding the acute management of ...MIS-C; however, there is still much to learn regarding the long-term outcomes of patients with MIS-C. In this study, we report the outcomes of patients admitted at our institution with MIS-C and the follow-up practices in Pediatric Cardiology over the last three years. We included patients who were admitted at Lucile Packard Children’s Hospital between January 1, 2020 and October 31, 2022, who met the CDC criteria for MIS-C, and were followed in the Pediatric Cardiology Outpatient Clinic at our institution. There were 25 patients who met our inclusion criteria. Eighteen patients (72%) had their initial follow-up visit within 1–2 weeks of discharge and seven patients (28%) had their initial follow-up visit within 4–6 weeks of discharge. Six patients out of the 25 (24%) had decreased left ventricular ejection fraction (LVEF < 50%) during their hospitalization. No patients had left main coronary artery aneurysm (
z
-score > 2.5), two patients (8%) had proximal right coronary artery aneurysm (
z
-score > 2.5), and one patient (4%) had left anterior descending coronary artery aneurysm (
z
-score > 2.5) during hospitalization. Patients who were admitted with the diagnosis of MIS-C showed normalization of left ventricular dysfunction at their initial follow-up visit as early as 2–4 weeks after discharge. In this cohort of MIS-C patients, a 4–6-week window for the first follow-up visit after discharge seems reasonable.
To test feasibility of tele-clinic visits using parentally acquired vital signs and focused echocardiographic images in patients with Marfan syndrome.
We included patients with Marfan syndrome aged ...5-19 years followed in our clinic. We excluded patients with Marfan syndrome and history of previous aortic root (AoR) surgery, cardiomyopathy, arrhythmia, or AoR ≥4.5 cm. We trained parents in-person to acquire focused echocardiographic images on their children using a hand-held device as well as how to use a stadiometer, scale, blood pressure (BP) machine, and a digital stethoscope. Before tele-clinic visits, parents obtained the echocardiographic images and vital signs. We compared tele-clinic and on-site clinic visit data. Parental and clinic echocardiograms were independently analyzed.
Fifteen patient/parent pairs completed tele-clinic visits, conducted at a median of 7.0 (IQR 3.0-9.9) months from the in-person training session. Parents took a median of 70 (IQR 60-150) minutes to obtain the height, weight, heart rate, BP, cardiac sounds, and echocardiographic images before tele-clinic visits. Systolic BP was greater on-site than at home (median +13 mm Hg, P = .014). Height, weight, diastolic BP, heart rate, and AoR measurements were similar.
This study provides information for implementing tele-clinic visits using parentally acquired vital signs and echocardiographic images in patients with Marfan syndrome. The results show that tele-clinic visits are feasible and that parents were able to obtain focused echocardiographic images on their children.
ClinicalTrials.gov: NCT03581682.
To compare the appropriateness and diagnostic yield of initial outpatient transthoracic echocardiography (TTE) between a community pediatric cardiology practice and an academic children's hospital.
...Initial outpatient pediatric TTE ordered by pediatric cardiologists between January and March 2014 at a community practice (Packard Children's Health Alliance PCHA; n = 238) and an academic tertiary center (Lucile Packard Children's Hospital LPCH; n = 76) were evaluated based on appropriate use criteria (AUC) released in December 2014. Multivariate logistic regression was used to identify predictors of “rarely appropriate” indications and abnormal TTE findings.
Of 314 TTEs, 165 (52.5%) were classified as “appropriate,” 40 (12.7%) were classified as “may be appropriate,” 100 (31.9%) were classified as “rarely appropriate,” and 9 (2.9%) were unclassifiable. The proportion of abnormal findings did not differ between the 2 practice settings (5.3% for LPCH vs 7.6% for PCHA; P = .61). TTEs performed at PCHA were significantly more likely to be “rarely appropriate” (OR, 2.57; 95% CI, 1.28-5.15; P = .008). Children aged <1 year (OR, 1.90; 95% CI, 1.03-3.50; P = .04) and ordering providers with <10 years since the completion of their fellowship (OR, 2.15; 95% CI, 1.20-3.87; P = .01) were associated with “rarely appropriate” indications. “Appropriate” TTEs were associated with abnormal findings (OR, 8.69; 95% CI, 1.77-42.68; P = .008).
The community practice was independently associated with greater inappropriate ordering of initial outpatient pediatric TTEs compared with the academic practice. The assessment of practice patterns following AUC release should account for physician and practice-related factors that could influence differences in TTE ordering patterns.
In a large cohort of 373 pediatric patients with Marfan syndrome (MFS) with a severe cardiovascular phenotype, we explored the proportion of patients with MFS with a pathogenic FBN1 variant and ...analyzed whether the type/location of FBN1 variants was associated with specific clinical characteristics and response to treatment. Patients were recruited on the basis of the following criteria: aortic root z-score > 3, age 6 months to 25 years, no prior or planned surgery, and aortic root diameter < 5 cm.
Targeted resequencing and deletion/duplication testing of FBN1 and related genes were performed.
We identified (likely) pathogenic FBN1 variants in 91% of patients. Ectopia lentis was more frequent in patients with dominant-negative (DN) variants (61%) than in those with haploinsufficient variants (27%). For DN FBN1 variants, the prevalence of ectopia lentis was highest in the N-terminal region (84%) and lowest in the C-terminal region (17%). The association with a more severe cardiovascular phenotype was not restricted to DN variants in the neonatal FBN1 region (exon 25-33) but was also seen in the variants in exons 26 to 49. No difference in the therapeutic response was detected between genotypes.
Important novel genotype–phenotype associations involving both cardiovascular and extra-cardiovascular manifestations were identified, and existing ones were confirmed. These findings have implications for prognostic counseling of families with MFS.
Background Recurrent coarctation (re-CoA) after stage I palliation in hypoplastic left heart syndrome (HLHS) is deleterious. We studied whether re-CoA had an effect on ventricular systolic function. ...Methods Retrospectively reviewed were HLHS patients surviving stage I Norwood palliation (stage I) and cavopulmonary shunt (CPS) between January 2004 and February 2007. Echocardiographic right ventricular fractional area change (RV-FAC) was used to evaluate ventricular systolic function after stage I, before CPS, and before Fontan procedures. Cardiac catheterization and magnetic resonance imaging data before CPS were reviewed to assess re-CoA, using a coarctation index (CI = isthmus diameter/descending aortic diameter). Results Fifty-one patients were included, and 21 had a CI of less than 0.75 (mean, 0.82 ± 0.19; 21). Twelve patients required arch balloon dilation between CPS and Fontan. The change of RV-FAC for all patients between stage I and CPS was −2.2% ± 9.6%. Pearson correlation coefficient demonstrated a significant correlation between lower CI values and lower RV-FAC at the pre-CPS echocardiogram ( r = .35, p = 0.03); and lower CI values and greater decrease in RV-FAC between stage I and pre-CPS evaluation ( r = 0.40, p = 0.018). At follow-up pre-Fontan, RV-FAC for patients who underwent balloon dilation for re-CoA recovered to a level that was inferior but not significantly different from that of patients who did not need balloon dilation. Conclusions Recurrent aortic arch obstruction after stage I for HLHS is associated with worse RV systolic function at the time of stage II operation. Timely intervention on the re-CoA results in recovery of RV function.
Abstract
The purpose of this article was to review the current literature on psychosocial implications of Marfan syndrome (MFS) and its impact on adolescents, adults, their families and to provide ...important considerations for providers. Since the previous reviews in 2015, numerous studies have been published that are included in the current review. This literature review was conducted using PubMed, Medline, PsychINFO, ERIC, Web of Science, and Academic Search Premier databases and only articles that studied psychosocial factors that influence MFS patients as adolescents, adults, family members, or their interactions with providers were included in this review. Of the 522 articles reviewed, 41 were selected based on the inclusion and exclusion criteria. All articles were peer-reviewed. MFS has various implications that can impact one's life; studies have shown that MFS causes a negative impact on an individual's formative years, quality of life, reproductive decision-making, work participation, and satisfaction with life. Clinicians and multidisciplinary teams should be aware of these factors to provide support focusing on coping strategies for the patient and their family.
Echocardiogram reports, but not images, are usually available for the evaluation of potential donor hearts. To assess the reliability of local reports of potential pediatric heart donors, we compared ...echocardiographic measurements of left ventricular (LV) systolic function between local hospitals and a central echocardiography laboratory.
We identified all potential donors aged <18 years managed by the California Transplant Donor Network from 2009 to 2013. Echocardiograms and reports were obtained from local hospitals. All studies were reviewed in a central laboratory by an experienced pediatric cardiologist blinded to local reports. Local and central measurements of fractional shortening (FS) were compared using the Bland-Altman method (mean difference ± 2 standard deviations). LV function was categorized based on FS as normal or mild, moderately, or severely depressed.
There were 70 studies from 59 donors with local and central measurements of FS. The mean difference between local and central FS was 3.9 ± 9.0. The limits of agreement ranged from -14.2 to 22. Twenty-five studies had discordant measurements of LV function, with 17 discordant by 1 category and 8 by 2 or more categories. Of 55 studies categorized as normal by local measurement, 6 were moderately to severely depressed by central review. Of 15 studies categorized as depressed by local measurement, 3 were normal by central review.
Local and central measurements of LV systolic function were discordant in 36% of studies. Given such discordance, efforts to obtain and view actual echocardiographic images should be part of the standard evaluation of potential pediatric heart donors.
Longitudinal clinical surveillance by transthoracic echocardiography (TTE) is an established practice in children with repaired tetralogy of Fallot (TOF). Non-Invasive Imaging Guidelines recommends a ...list of reporting elements that should be addressed during routine TTE in this population. In this study, we assessed the adherence to these recommendations.
This was a multi-center (n = 8) retrospective review of TTE reports in children ≤11 years of age who have had complete TOF repair. We included 10 patients from each participating center (n = 80) and scored 2 outpatient follow-up TTE reports on each patient. The adherence rate was based on completeness of TTE reporting elements derived from the guidelines.
We reviewed 160 TTE reports on 80 patients. Median age was 4.4 months (IQR 1.5-6.6) and 3.6 years (IQR 1.3-6.4) at the time of complete surgical repair and first TTE report, respectively. The median adherence rate to recommended reporting elements was 61% (IQR 53–70). Of the 160 reports, 9 (7%) were ≥80% adherent and 40 (25%) were ≥70% adherent. Quantitative measurements of right ventricular outflow tract (RVOT), right ventricular (RV) size and function, and branch pulmonary arteries were least likely to be reported.
Overall adherence to the most recent published imaging guidelines for surveillance of children with repaired TOF patients was suboptimal, especially for reporting of RVOT, RV size and function, and branch pulmonary arteries. Further studies are needed to explore the barriers to adherence to guidelines and most importantly, whether adherence is associated with clinical outcomes.
In pediatric patients with repaired tetralogy of Fallot, surveillance adherence to guidelines is suboptimal, warranting further studies on the barriers to adherence and its implications on clinical outcomes. Display omitted
•Longitudinal echo surveillance after tetralogy of Fallot (TOF) repair is important.•There are published reporting guidelines for echo surveillance in repaired TOF.•In a multicenter study we showed suboptimal adherence to the reporting guidelines.•Quantitative indices of RV size/function and pulmonary artery were least reported.•Further studies should determine if adherence is associated with clinical outcomes.
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