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PURPOSE: We aimed to evaluate the safety and effectiveness of cryoablation in the treatment of low-flow malformations, specifically venous malformation (VM) and fibroadipose vascular anomaly (FAVA). METHODS: We conducted a retrospective review of 11 consecutive patients with low-flow malformations (14 lesions; 9 VM, 5 FAVA), median lesion volume 10.8 cm(3), (range, 1.8–55.6 cm(3)) with a median age of 19 years (range, 10–50 years) who underwent cryoablation to achieve symptomatic control. Average follow-up was at a median of 207 days postprocedure (range, 120–886 days). Indications for treatment included focal pain and swelling. Technical success was achieved if the cryoablation ice ball covered the region of the malformation that corresponded to the patient’s symptoms. Clinical success was considered complete if all symptoms resolved and partial if some symptoms persisted but did not necessitate further treatment. RESULTS: The technical success rate was 100%. At 1-month follow-up, 13 of 14 lesions (93%) had a complete response and one (7%) had a partial response. At 6-month follow-up 12 of 13 (92%) had a complete response and 1 (8%) had a partial response. A total of 6 patients underwent primary cryoablation. Out of 9 VM cases, 7 had prior sclerotherapy and 2 had primary cryoablation. Out of the 5 FAVA cases, 1 had prior sclerotherapy and the remaining 4 cases underwent primary cryoablation. There were 3 minor complications following cryoablation including 2 cases of skin blisters and 1 case of transient numbness. These complications resolved with conservative management. CONCLUSION: Cryoablation is safe and effective in the treatment of low-flow vascular malformations, either after sclerotherapy or as primary treatment.

Background Chylothorax is a rare complication of pediatric cardiac operations that occurs more frequently in children with Noonan syndrome, a genetic disorder associated with cardiac defects and lymphatic anomalies. Case presentation We report a case of postoperative chylothorax in a 6-month-old infant with Noonan syndrome where multimodality lymphatic imaging guided management was followed. Drainage patterns of the lymphatic capillaries in the lower and upper extremities were visualized during near-infrared fluorescence lymphatic imaging (NIRFLI). Dynamic magnetic resonance lymphangiography (MRL) further identified the site of leakage in the thoracic duct and subsequently guided surgical intervention. Conclusions Application of multimodality imaging allows for greater individualization of treatment and should be considered in patients with complex cases such as those with syndromes associated with a higher incidence of chylothorax. IRB Number: HSC-MS-13–0754, December 10, 2013

Objectives To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha ( PIK3CA ) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). Study design We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children's Hospital who had an isolated LM (n = 17), KTS (n = 21), fibro-adipose vascular anomaly (n = 8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n = 31) from Seattle Children's Hospital. Results Most individuals from Boston Children's Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), fibro-adipose vascular anomaly (5/8), and congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (31/33) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ∼80% of cases. Seventy-four percent of patients with LM from Seattle Children's Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. Conclusions Somatic PIK3CA mutations are the most common cause of isolated LMs and disorders in which LM is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism because the abundance of mutant cells in a malformed tissue can be low.

Purpose: To determine whether exclusion of pseudoaneurysms with the use of a covered stent in prosthetic arteriovenous (AV) hemodialysis access grafts impacts the incidence of eventual AV graft infection. Materials and Methods: Review of an interventional radiology database for prosthetic AV graft interventions involving stent deployment anywhere within the AV graft circuit revealed 235 interventions in 174 patients between November 2004 and December 2008. Incidence of AV graft infection was analyzed based on stent type (bare metal vs covered), location, and indication for stent deployment on a per-stent, per-procedure, and per-graft basis. Results: A total of 16.3% of the stent-implanted AV grafts were eventually surgically excised as a result of graft infection. Covered stents used to treat an intragraft pseudoaneurysm were more commonly associated with subsequent graft infection compared with bare or covered stents deployed within the graft for other reasons: 42.1% versus 18.2% (P .011). Stents deployed in an intragraft location were also associated with a higher incidence of graft infection compared with those deployed at the venous anastomosis or outflow vein: 26.9% versus 6.9% (P .001). No significant difference was identified in infection rates between bare and covered stents. Conclusions: Covered stent exclusion of intragraft pseudoaneurysms demonstrated a significant correlation with eventual prosthetic AV graft infection.