Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.

2023

e30419

05/2023

1545-5017

Complex lymphatic anomalies are debilitating conditions characterized by aberrant development of the lymphatic vasculature (lymphangiogenesis). Diagnosis is typically made by history, examination, radiology, and histologic findings. However, there is significant overlap between conditions, making accurate diagnosis difficult. Recently, genetic analysis has been offered as an additional diagnostic modality. Here, we describe four cases of complex lymphatic anomalies, all with PIK3CA variants but with varying clinical phenotypes. Identification of PIK3CA resulted in transition to a targeted inhibitor, alpelisib. These cases highlight the genetic overlap between phenotypically diverse lymphatic anomalies.

10.1002/pbc.30419

Pediatr Blood Cancer

37194624

Transcatheter Thoracic Duct Decompression for Multicompartment Lymphatic Failure After Fontan Palliation.

2022

e011733

06/2022

1941-7632

BACKGROUND: Lymphatic embolization therapy has proven effective for Fontan failure from plastic bronchitis or protein-losing enteropathy but not when multiple lymphatic compartments are involved; furthermore, embolization does not alter the underlying pathophysiology of lymphatic dysfunction. A technique for transcatheter thoracic duct decompression (TDD), rerouting the thoracic duct to the pulmonary venous atrium to treat multicompartment lymphatic failure is described and early outcomes presented.

METHODS: Initially covered stents were used to channel the innominate vein flow inside of the cavopulmonary pathway into the pulmonary venous atrium. A modified approach was developed where covered stents redirected innominate vein directly to the left atrium via an extravascular course. Baseline and follow-up data on all patients undergoing TDD were reviewed.

RESULTS: Twelve patients underwent TDD between March 2018 and February 2021 at a median age of 12 (range: 2-22) years. Lymphatic failure occurred in median of 3 compartments per patient (protein-losing enteropathy, ascites, pleural effusions, plastic bronchitis); 10 patients had lymphatic embolizations before TDD. TDD method was intra-Fontan tunnel in 4, direct approach in 7, and other in 1. There were no major procedural complications; 6 patients underwent subsequent procedures, most commonly to treat endoleaks. Lymphatic failure resolved in 6 patients, improved in 2, and was unchanged in 4 at 6 (range: 1-20) months follow-up. One patient died after TDD from Fontan failure.

CONCLUSIONS: TDD is a promising new treatment for the failing Fontan physiology from multicompartment lymphatic failure. Additional work is needed to refine the technique and define optimal candidates.

10.1161/CIRCINTERVENTIONS.121.011733

Circ Cardiovasc Interv

35708032

Hypereosinophilia in NICU patients with a neonatal lymphatic flow disorder.

2022

07/2022

1476-5543

10.1038/s41372-022-01460-z

J Perinatol

35859185

State-of-the-art imaging for lymphatic evaluation in children.

2022

08/2022

1432-1998

The lymphatic system has been poorly understood and its importance neglected for decades. Growing understanding of lymphatic flow pathophysiology through peripheral and central lymphatic flow imaging has improved diagnosis and treatment options in children with lymphatic diseases. Flow dynamics can now be visualized by different means including dynamic contrast-enhanced magnetic resonance lymphangiography (DCMRL), the current standard technique to depict central lymphatics. Novel imaging modalities including intranodal, intrahepatic and intramesenteric DCMRL are quickly evolving and have shown important advances in the understanding and guidance of interventional procedures in children with intestinal lymphatic leaks. Lymphatic imaging is gaining importance in the radiologic and clinical fields and new techniques are emerging to overcome its limitations.

10.1007/s00247-022-05469-6

Pediatr Radiol

35980463

The influence of deficient retro-aortic rim on technical success and early adverse events following device closure of secundum atrial septal defects: An Analysis of the IMPACT Registry(®).

2017

102-111

2017 Jan

1522-726X

BACKGROUND: Concern regarding aortic erosion has focused attention on the retro-aortic rim in patients undergoing device closure of atrial septal defects (ASD), but its effect on early outcomes is not well studied.

METHODS: A multicenter retrospective cohort study of patients undergoing device occlusion of ASD between 1/2011-10/2014 was performed, using data from the IMproving Pediatric and Adult Congenital Treatment Registry. Subjects were divided between those with retro-aortic rim <5 and ≥5 mm. Primary outcomes were technical failure and major early adverse events. Case times were measured as surrogates of technical complexity. The effect of deficient retro-aortic rim on primary outcomes was assessed using hierarchical logistic regression, adjusting for other suspected covariates and assessing whether they represent independent risk factors RESULTS: 1,564 subjects (from 77 centers) were included, with deficient retro-aortic rim present in 40%. Technical failure occurred in 91 subjects (5.8%) and a major early adverse event in 64 subjects (4.1%). Adjusting for known covariates, the presence of a deficient retro-aortic rim was not significantly associated with technical failure (OR: 1.3, 95% CI: 0.9-2.1) or major early adverse event (OR: 0.7, 95% CI: 0.4-1. 2). Total case (P = 0.01) and fluoroscopy time (P = 0.02) were greater in subjects with deficient rim, but sheath time was not significantly different (P = 0.07). Additional covariates independently associated with these outcomes were identified.

CONCLUSION: Deficient retro-aortic rim was highly prevalent but not associated with increased risk of technical failure or early adverse events. Studies with longer follow-up are necessary to assess other outcomes, including device erosion. © 2016 Wiley Periodicals, Inc.

10.1002/ccd.26585

Catheter Cardiovasc Interv

27189502

Outcomes of Operator-Directed Sedation and Anesthesiologist Care in the Pediatric/Congenital Catheterization Laboratory: A Study Utilizing Data From the IMPACT Registry.

2021

401-413

2021 Feb 22

1876-7605

OBJECTIVES: The objective of this study was to assess contemporary use of operator directed sedation (ODS) and anesthesiologist care (AC) in the pediatric/congenital cardiac catheterization laboratory (PCCL), specifically evaluating whether the use of operator-directed sedation was associated with increased risk of major adverse events.

BACKGROUND: The safety of ODS relative to AC during PCCL procedures has been questioned.

METHODS: A multicenter, retrospective cohort study was performed studying procedures habitually performed with ODS or AC at IMPACT (Improving Adult and Congenital Treatment) registry hospitals using ODS for ≥5% of cases. The risks for major adverse events (MAE) for ODS and AC cases were compared, adjusted for case mix. Current recommendations were evaluated by comparing the ratio of observed to expected MAE for cases in which ODS was inappropriate (inconsistent with those guidelines) with those for similar risk AC cases, as well as those in which ODS or AC was appropriate.

RESULTS: Of the hospitals submitting data to IMPACT, 28 of 101 met inclusion criteria. Of the 7,042 cases performed using ODS at these centers, 88% would be inappropriate. Use of ODS was associated with lower likelihood of MAE both in observed results (p < 0.0001) and after adjusting for case-mix (odds ratio: 0.81; p = 0.006). Use of AC was also associated with longer adjusted fluoroscopy and procedure times (p < 0.0001 for both). The observed/expected ratio for ODS cases with high pre-procedural risk (inappropriate for ODS) was significantly lower than that for AC cases with comparable pre-procedural risk. Across a range of pre-procedural risks, there was no stratum in which risk for MAE was lower for AC than ODS.

CONCLUSIONS: Across a range of hospitals, ODS was used safely and with improved efficiency. Clinical judgment better identified cases in which ODS could be used than pre-procedural risk score. This should inform future guidelines for the use of ODS and AC in the catheterization laboratory.

10.1016/j.jcin.2020.10.054

JACC Cardiovasc Interv

33602437

Influence of Antegrade Pulmonary Blood Flow on Outcomes of Superior Cavopulmonary Connection.

2022

2022 Mar 24

1552-6259

<p><strong>BACKGROUND: </strong>We sought to characterize short- and long-term outcomes following superior cavopulmonary connection (SCPC) in children eligible for inclusion of antegrade pulmonary blood flow (APBF) in the SCPC circuit, exploring whether maintaining APBF was associated with outcomes.</p>

<p><strong>METHODS: </strong>This was a retrospective cohort study of patients with single ventricle heart disease and APBF who underwent SCPC at our center between 1/1/00 and 9/30/17. Patients were divided into two groups: APBF eliminated (APBF (-)), and APBF maintained (APBF (+)) at the time of SCPC.</p>

<p><strong>RESULTS: </strong>Of 149 patients, 108 (72.5%) were in APBF (-) and 41 (27.5%) were in APBF (+). Of those in APBF (+), 5 (12.2%) subsequently had APBF eliminated after SCPC. Patients in APBF (+) had a higher prevalence of chest tube duration &gt; 10 days and underwent more interventions during the post-SCPC hospitalization (1.9% v. 12%, p=0.008 for both), but had shorter surgical support times at SCPC (p&lt;0.0001). There were no differences in post-SCPC intensive care unit or hospital lengths of stay82 patients (76%) in APBF (-) and 22 patients (54%) in APBF (+) underwent Fontan completion during the study period. Patients in APBF (+) had a greater weight gain from SCPC to Fontan [6.7 (1.8-22) v. 8.15 (4.4-20.6) kg, p=0.012] and a shorter hospital length of stay after Fontan [9 (4-107) v. 7.5 (4-14) days, p=0.044].</p>

<p><strong>CONCLUSIONS: </strong>Short term morbidity associated with maintaining APBF at the time of SCPC is modest, but longer-term outcomes suggest potential benefits in those in whom APBF can be successfully maintained.</p>

10.1016/j.athoracsur.2022.03.011

Ann Thorac Surg

35341786

Magnetic resonance lymphangiography in post-Fontan palliation patients with MR non-conditional cardiac electronic devices: An institutional experience.

2022

43-52

2022 Feb 23

1873-4499

<p>Magnetic resonance imaging (MRI) is a routinely used imaging modality for the diagnosis and treatment planning of many health conditions in children and adults. Yet, its use has been limited in many institutions for patients with cardiac implantable electronic devices (CIEDs) due to safety concerns. Current evidence relates primarily to devices with transvenous leads. However, patients with complex cardiac anatomy and palliative surgery procedures often require epicardial pacemakers. To date, very few studies have addressed MRI safety considerations with non-conditional CIEDs or abandoned epicardial leads in infants, and to our knowledge, this is the first report that shows Fontan palliation patients who underwent Dynamic Contrast enhanced MR Lymphangiography (DCMRL) with these types of devices. We present our institutional experience with five cases where a DCMRL was safely performed in three children and two adults with Fontan palliation to evaluate their lymphatic anatomy and guide interventional procedures. Regarding our brief experience, we concluded that DCMRL may be considered in post-Fontan patients with non-conditional CIEDs, including epicardial leads, seeking the best diagnostic and treatment options available. Institutional protocols must be revised in advance to perform this technique in a controlled setting.</p>

10.1016/j.clinimag.2022.02.016

Clin Imaging

35334301

A multifaceted approach to the management of plastic bronchitis after cavopulmonary palliation.

2014

634-40

2014 Aug

1552-6259

<p><strong>BACKGROUND: </strong>Plastic bronchitis is a rare, potentially life-threatening complication after Fontan operation. Hemodynamic alterations (elevated central venous pressure and low cardiac output) likely contribute to the formation of tracheobronchial casts composed of inflammatory debris, mucin, and fibrin. Pathologic studies of cast composition support medical treatment with fibrinolytics such as inhaled tissue plasminogen activator (t-PA).</p>

<p><strong>METHODS: </strong>This was a retrospective case series of medical, surgical, and catheter-based treatment of patients with plastic bronchitis after cavopulmonary palliation.</p>

<p><strong>RESULTS: </strong>Included were 14 patients (86% male, 93% white). Median age at Fontan operation was 2.7 years (range, 1.2 to 4.1 years), with median interval to plastic bronchitis presentation of 1.5 years (range, 9 days to 15.4 years). Cast composition was available for 11 patients (79%) and included fibrin deposits in 7. All patients were treated with pulmonary vasodilators, and 13 (93%) were treated with inhaled t-PA. Hemodynamically significant lesions in the Fontan pathway were addressed by catheter-based (n=9) and surgical (n=3) interventions. Three patients (21%) underwent heart transplantation. Median follow-up was 2.7 years (range, 0.6 to 8.7 years). Symptoms improved, such that 6 of 13 patients (46%) were weaned off t-PA. Rare or episodic casts are successfully managed with outpatient t-PA in most of the other patients. Of the 3 patients who underwent heart transplant, 2 are asymptomatic and 1 has recurrent casts in the setting of elevated filling pressures and rejection.</p>

<p><strong>CONCLUSIONS: </strong>A systematic step-wise algorithm that includes optimization of hemodynamics, aggressive pulmonary vasodilation, and inhaled t-PA is an effective treatment strategy for patients with plastic bronchitis after cavopulmonary connection.</p>

10.1016/j.athoracsur.2014.04.015

Ann Thorac Surg

24841545

Stent Angioplasty for Post-Operative Coronary Artery Stenosis in Infants.

2022

203-207

2022 Mar

2150-136X

<p><strong>INTRODUCTION: </strong>While frequently performed in the adult population, percutaneous coronary artery stent angioplasty (CSA) in infants is rare. CSA in infants is challenging because of limited options in terms of appropriately sized (length and diameter) stents, concern about stenting vessels with significant growth potential and limited data regarding durability of benefit. We report a multicenter case series of infants who underwent CSA.</p>

<p><strong>METHODS: </strong>A multicenter, retrospective case series of infants who underwent percutaneous CSA to treat post-operative coronary artery stenoses was performed.</p>

<p><strong>RESULTS: </strong>Six infants from 3 institutions who underwent post-operative CSA were identified. The anatomic diagnoses were d-transposition of the great arteries in 3 cases, anomalous left coronary artery from the pulmonary artery in 2 and supravalvar aortic stenosis in 1. All infants were critically ill at the time of CSA. Diameters of coronary artery stents used ranged from 2.25 to 2.75 mm. There were no procedural complications. All stents were patent immediately after placement and the clinical condition improved or stabilized in all patients. Follow-up angiography was available for 3 patients at 4 to 16 months post-CSA, at which time 67% (2/3) remained patent.</p>

<p><strong>CONCLUSION: </strong>CSA is a feasible and effective therapy for critically ill infants with post-surgical coronary obstruction. Treatment appears to allow at least short-term reperfusion to facilitate recovery of ventricular function and potential development of collateral circulation when longer-term stent patency is not achieved. Longer-term stent patency and coronary artery health remain unanswered questions.</p>

10.1177/21501351221074617

World J Pediatr Congenit Heart Surg

35238698