P1452Low fluoroscopy approach with a novel ablation technology in right side procedures: a large multicenter experience from the CHARISMA registry

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
F M Cauti ◽  
A Piro ◽  
N Di Belardino ◽  
G Tola ◽  
M Anselmino ◽  
...  
Keyword(s):  
Case Series ◽  
Median Number ◽  
Reference Points ◽  
Right Atrial ◽  
Fluoroscopy Time ◽  
Mapping System ◽  
3D Geometry ◽  
Electrophysiological Studies ◽  
Acute Success ◽  
Multicenter Prospective Study

Abstract Funding Acknowledgements NO FUNDING Background Electrophysiological studies and ablation procedures expose both physicians and patients to a significant amount of radiation. Nowadays, most of 3-D mapping systems allow for improved tracking of catheters with possible reduction in radiation exposure. No data exists on the ability to minimize fluoroscopy time and dose while using the Rhythmia mapping system. Purpose To report preliminary data on feasibility and safety of a low fluoroscopic approach using the Rhythmia mapping system in SVT procedures. Methods The CHARISMA study is a non-randomized, multicenter, prospective study in which consecutive patients indicated for arrhythmia were enrolled. For our purpose consecutive right-side procedures performed through a low fluoroscopy approach with the Rhythmia mapping system were analyzed. The mapping system was used to create the 3D geometry of chambers of interest and anatomic reference points and to visualize the catheters from the beginning to the end of the procedure. Fluoroscopy was used only if deemed necessary. Results 204 unselected consecutive cases of SVT from 11 centers were included in the study (mean age = 55 ± 18 years, 53% male, 85 AVNRT, 75 AFL, 28 AP, 9 AT and 7 other right atrial procedures). In all the cases, diagnostic EP and ablation catheters were positioned using only the low fluoroscopic guided mapping approach. During the study, a total of 7157 s of fluoroscopy was needed in 204 patients (51 ± 137 s per procedure). One hundred fourty-one procedures (69%) were completed with less than 10 seconds of fluoroscopy, whereas in 169 (83%) of the cases the fluoroscopy time was lower than 60 seconds. Low fluoroscopy approach with less than 10 seconds was less frequently obtained in case of AFL (46, 61.3%) compared to AVNRT ablation (65, 76.5%, p = 0.041) whereas no differences were found comparing with AP (21, 75%, p = 0.248). The median reconstructed RA volume was 94[65-133] ml in a median mapping time of 11 [6-16] min. The median number of radiofrequency ablations to terminate each arrhythmia was 5 [3-12] (total RF delivery time of 293 [180-505] sec). A 100% rate of acute success was observed in our case series. No complications occurred. Conclusions In our preliminary experience, arrhythmias ablation through low fluoroscopy approach and the use of a novel ablation technology seems to be safe, feasible, and effective in common right atrial arrhythmias. Use of fluoroscopy can be nearly avoided in most cases, without any reduction of the safety and effectiveness profile.

Minimal fluoroscopy approach in current clinical practice with a novel ablation technology for supraventricular tachycardia: a large multicenter experience from an Italian registry

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
M Anselmino ◽  
F.M Cauti ◽  
A Piro ◽  
N Di Belardino ◽  
M Scaglione ◽  
...  
Keyword(s):  
Supraventricular Tachycardia ◽  
Multivariate Logistic Regression Analysis ◽  
Median Number ◽  
Right Atrial ◽  
Fluoroscopy Time ◽  
Inverse Association ◽  
Mapping System ◽  
3D Geometry ◽  
Electrophysiological Studies ◽  
Acute Success

Abstract Background Electrophysiological studies and ablation procedures expose both physicians and patients to a large amount of radiation. Most of 3-D mapping systems provide improved tracking of catheters, possibly allowing relevant reductions in radiation exposure. No data exists on the ability of the Rhythmia mapping system to minimize fluoroscopy time and dose. Purpose To report preliminary data on feasibility and safety of a minimal fluoroscopic approach using the Rhythmia mapping system in supraventricular tachycardia (SVT) procedures. Methods Consecutive patients indicated for arrhythmia ablation were enrolled in the CHARISMA study at 12 centers. For our purpose consecutive right-side procedures performed through a minimal fluoroscopy approach with the Rhythmia mapping system were analyzed. A 3D geometry of chambers of interest was reconstructed on the basis of the electroanatomic information taken from the mapping system. Fluoroscopy was used only if deemed necessary. Results This analysis included 266 patients (mean age = 57±17 years, 57% male) undergoing SVT procedures (120 AVNRT, 91 AFL, 32 AP, 11 AT and 12 other right atrial procedures). In all cases, diagnostic EP and ablation catheters were positioned using a low fluoroscopic electroanatomic guided approach. The mean fluoroscopy time needed for each procedure was 55±128 s. The median reconstructed RA volume was 92 [63–131] ml in a median mapping time of 11 [7–17] min. The median number of radiofrequency ablations to terminate each arrhythmia was 6 [3–12] (total RF delivery time of 291 [180–505] s). Sixty-five percent of the procedures (n=174) were completed with less than 10 s of fluoroscopy. Low fluoroscopy approach with less than 10 s (minimal fluoroscopy approach) was most frequently obtained in case of AVNRT (91, 76%) compared to other arrhythmias' ablation (83, 57%, p=0.001) Achievement of a minimal fluoroscopic approach was not affected by operator's experience (65% vs 66%, p=1.00, respectively within physician with more or less of 10 years of active practice), whereas it was affected by presence of a fellow in training during the procedure (72% without fellow vs 26% with fellow, p<0.0001). A 100% rate of acute success was observed, and no procedure-related complications occurred. At multivariate logistic regression analysis adjusted for baseline confounders, both the total number of RF ablations (OR: 0.93 (95% CI:0.88 to 0.96; p=0.0053) and the presence of a fellow in training during the procedure (OR: 0.29; 95% CI: 0.1 to 0.87; p=0.0278) had an inverse association to the achievement of a minimal fluoroscopic approach. Conclusions In our preliminary experience, arrhythmias' ablation through minimal fluoroscopy approach with the use of a novel ablation technology seems to be safe, feasible, and effective in common right atrial arrhythmias. Use of fluoroscopy can be dramatically reduced in most cases, without any reduction of the safety and acute effectiveness profile. Funding Acknowledgement Type of funding source: None

Stability and performance of the EnSite Precision cardiac mapping system for electrophysiology mapping and ablation procedures: results from the EnSite Precision observational study

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
D Lin ◽  
B Glover ◽  
J Colley ◽  
B Thibault ◽  
C.M Steinberg ◽  
...  
Keyword(s):  
Observational Study ◽  
Real World ◽  
Cardiac Electrophysiology ◽  
Median Number ◽  
System Stability ◽  
Cardiac Mapping ◽  
Average Force ◽  
Mapping System ◽  
Respiratory Change ◽  
Electrophysiology Mapping

Abstract Background The EnSite Precision™ Cardiac Mapping System is a catheter navigation and mapping system capable of displaying the three-dimensional (3D) position of conventional and sensor enabled electrophysiology catheters, as well as displaying cardiac electrical activity as waveform traces and dynamic 3-D maps of cardiac chambers. Objective The EnSite Precision™ Observational Study was designed to quantify and characterize the use of the EnSite Precision™ Cardiac Mapping System for mapping and ablation of cardiac arrhythmias in a real-world environment and to evaluate procedural and subsequent clinical outcomes. Methods 1065 patients were enrolled at 38 centers in the U.S. and Canada between 2017–2018. Eligible subjects were adults undergoing a cardiac electrophysiology mapping and radiofrequency ablation procedures using the EnSite Precision™ System. Results Of 989 patients who completed the protocol, a geometry was created in 936 (94.7%). Most initial maps were created using Automap (n=545, 67.0%) or a combination of Automap and manually mapping (n=151, 18.6%). Median time to create an initial map was 9.0 min (IQR 5.0–15.0), with a median number of used mapping points per minute of 92.7 (IQR 30.0–192.0). During ablation, AutoMark was used in 817 (82.6%) of procedures. The most frequent metrics for lesion color were Impedance Drop or Impedance Drop Percent (45.5% combined), time (23.9%) and average force (14.2%). At Canadian sites where LSI was an option, it was used as the color metric in 87 (45.8%) of cases (10.6% overall). The EnSite System was stable throughout 79.7% (n=788 of 989) of procedures. Factors affecting stability were respiratory change (n=88 of 989, 8.9%), patient movement (n=73, 7.4%), CS Positional Reference dislodgement (n=32, 3.2%), and cardioversion (n=19, 1.9%). Conscious sedation was used in 189 (19.1%) of patients. Acute success was reached based on the pre-defined endpoints for the procedure in 97.4% (n=963) of cases. Conclusion In a real-world study analysis, the EnSite Precision™ mapping system was associated with a high prevalence of acute procedural success, low mapping times, and high system stability. Funding Acknowledgement Type of funding source: None

scholarly journals Emergency sandwich patch repair via right ventricular incision for postinfarction ventricular septal defects: a case series

2021 ◽  
Vol 5 (5) ◽  
Author(s):  
Yusuke Shimahara ◽  
Satsuki Fukushima ◽  
Shin Yajima ◽  
Naoki Tadokoro ◽  
Takashi Kakuta ◽  
...  
Keyword(s):  
Hospital Mortality ◽  
Right Ventricular ◽  
Artery Bypass ◽  
Case Series ◽  
The Other ◽  
Patch Repair ◽  
Right Atrial ◽  
Residual Shunt ◽  
Low Cardiac Output Syndrome ◽  
St Segment Elevation

Abstract Background The surgical treatment for postinfarction ventricular septal defect (VSD) remains challenging, especially in emergency cases. Several authors have reported the efficacy of a sandwich patch VSD repair via a right ventricular (RV) incision. However, this procedure remains uncommon, and its efficacy is still unknown, especially when performed under an emergency. Case summary We were able to perform sandwich patch VSD repair via an RV incision on seven consecutive patients with VSD following an ST-segment elevation myocardial infarction (STEMI) from March 2017 to December 2019. Bovine pericardial patches were used for sandwich patches. Two patients developed inferior STEMI, and the other patients developed anterior STEMI. Six patients received intra-aortic balloon pump prior to surgery, and the other received extracorporeal membrane oxygenation with Impella. The interval between the diagnosis of VSD and surgery was within 1 day in all patients except one (5 days). All seven patients underwent VSD repair in the emergency status. Four patients underwent concomitant coronary artery bypass grafting. The hospital mortality rate was 14.3% (1/7). Early postoperative transthoracic echocardiography revealed that only one patient developed more than trace residual shunt. The postoperative right atrial pressure was not significantly elevated at ≤12 mmHg in all patients. No patient developed early postoperative prolonged low cardiac output syndrome. Discussion In patients with postinfarction VSD, a sandwich patch VSD repair via an RV incision is a promising procedure with a low incidence of residual shunt development and hospital mortality, even in emergency cases.

scholarly journals Obstruction of the inferior vena cava following bicaval orthotopic heart transplantation: a case series

2021 ◽  
Vol 5 (2) ◽  
Author(s):  
Anas Abudan ◽  
Brent Kidd ◽  
Peter Hild ◽  
Bhanu Gupta
Keyword(s):  
Inferior Vena Cava ◽  
Heart Transplantation ◽  
Inferior Vena ◽  
Rare Complication ◽  
Vena Cava ◽  
Case Series ◽  
Transoesophageal Echocardiography ◽  
Right Atrial ◽  
Orthotopic Heart Transplantation ◽  
Eustachian Valve

Abstract Background Inferior vena cava (IVC) obstruction is a rare complication of orthotopic heart transplantation (OHT) and is unique to bicaval surgical technique. The clinical significance, diagnosis, complications, and management of post-operative IVC anastomotic obstruction have not been adequately described. Case summary Two patients with end-stage heart failure presented for bicaval OHT. Post-operative course was complicated with shock refractory to fluid resuscitation and inotropic/vasopressor support. Obstruction at the IVC-right atrial (RA) anastomosis was diagnosed on transoesophageal echocardiography (TOE), prompting emergent reoperation. In both cases, a large donor Eustachian valve was found to be restricting flow across the IVC-RA anastomosis. Resection of the valve resulted in relief of obstruction across the anastomosis and subsequent improvement in haemodynamics and clinical outcome. Discussion Presumably rare, we present two cases of IVC obstruction post-bicaval OHT. Inferior vena cava obstruction is an under-recognized cause of refractory hypotension and shock in the post-operative setting. Prompt recognition using TOE is crucial for immediate surgical correction and prevention of multi-organ failure. Obstruction can be caused by a thickened Eustachian valve caught in the suture line at the IVC anastomosis, which would require surgical resection.

O-Arm–Guided Balloon Kyphoplasty: Prospective Single-Center Case Series of 54 Consecutive Patients

2011 ◽  
Vol 68 (suppl_2) ◽  
pp. ons250-ons256 ◽  
Author(s):  
Frédéric Schils
Keyword(s):  
Case Series ◽  
Balloon Kyphoplasty ◽  
Guidance System ◽  
Fluoroscopy Time ◽  
Vertebral Compression Fractures ◽  
Additional Time ◽  
Minimally Invasive Spinal Surgery ◽  
X Ray ◽  
Clinical Series ◽  
The Mean

Abstract Background: Balloon kyphoplasty is widely used to treat vertebral compression fractures. Procedure outcome and safety are directly linked to precise radiological imaging requiring 1 or 2 C arms to allow correct visualization throughout the procedure. This minimally invasive spinal surgery is associated with radiation exposure for both patient and surgeon. In our center, we switched from using a C-arm to an O-arm image guidance system to perform balloon kyphoplasty. Our preliminary experience is reported in Acta Neurochirurgica, and the encouraging results led us to study this subject more extensively. This article presents our complete results. To the best of our knowledge, there is no comparable clinical series describing O-arm use in kyphoplasty procedures published in the literature. Objective: To report our complete results of using the O-arm guidance system to perform balloon kyphoplasty. Methods: We prospectively evaluated O-arm–guided kyphoplasty procedure in 54 consecutive patients and measured x-ray exposure and fluoroscopy time. Results: The mean surgical time for the procedure was 38 minutes with a mean fluoroscopy procedure time of 3.1 minutes. The mean fluoroscopy time by level was 2.5 minutes. Mean irradiation dose by procedure was 220 mGy and by level was 166 mGy. There was a significant reduction in fluoroscopy time and x-ray exposure from 5.1 minutes with classic C-arm use to 3.1 minutes when with O-arm use without additional time required for positioning the system. Conclusion: With this new intraoperative system, the overall surgical and fluoroscopy times can be further reduced in the near future.

scholarly journals Hodgkin lymphoma arising in patients with chronic lymphocytic leukemia: outcomes from a large multi-center collaboration

Haematologica ◽  
2020 ◽  
pp. 0-0
Author(s):  
Deborah M. Stephens ◽  
Ken Boucher ◽  
Elizabeth Kander ◽  
Sameer A. Parikh ◽  
Erin M. Parry ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Hodgkin Lymphoma ◽  
Hematopoietic Cell Transplantation ◽  
Small Sample Size ◽  
Case Series ◽  
Standard Of Care ◽  
Median Number ◽  
Small Sample ◽  
Lymphocytic Leukemia ◽  
Treatment Type

Chronic lymphocytic leukemia (CLL) patients who develop Hodgkin lymphoma (HL) have limited survival. No current therapeutic standard of care exists. We conducted a multi-center retrospective study of patients with Hodgkin Transformation (HT) of CLL. Clinicobiologic characteristics, treatment type, and survival outcomes were analyzed and compared with historic case series. Ninety-four patients were identified. Median age at HT was 67 years (range, 38-85). Median time from CLL diagnosis to HT was 5.5 years (range, 0-20.2). Prior to HT, patients received a median of 2 therapies for CLL (range, 0-12). As initial therapy for HT, 61% (n=62) received ABVD-based regimens (adriamycin, bleomycin, vinblastine, and dacarbazine). Seven (7%) patients received hematopoietic cell transplantation (HCT) while in first complete remission (CR1). The median number of treatments for HT per patient was 1 (range, 0-5) with 59 (61%) patients only receiving one line of therapy. After HT, patients had a median follow-up of 1.6 years (range, 0-15.1). Two-year overall survival (OS) after HT diagnosis was 72% (95%CI 62-83%). The patients who received standard ABVD-based therapy had a median OS of 13.2 years. Although limited by small sample size, the patients who underwent HCT for HT in CR1 had a similar 2-year OS (n=7; 67%) compared to patients who did not undergo HCT for HT in CR1 (n=87; 72%; p=0.46). In this multi-center study, HT patients treated with ABVD-based regimens had prolonged survival supporting the use of these regimens as standard of care for these patients.

Abstract 9860: Safety and Clinical Outcome of Catheter Ablation of Ventricular Arrhythmias Using Contact Force Sensing, Consecutive Case Series

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Astrid A Hendriks ◽  
Ferdi Akca ◽  
Lara Dabiri Abkenari ◽  
Muchtiar Khan ◽  
Rohit E Bhagwandien ◽  
...  
Keyword(s):  
Contact Force ◽  
Ventricular Arrhythmias ◽  
Case Series ◽  
Long Term Outcome ◽  
Major Complications ◽  
Acute Success ◽  
Vt Ablation ◽  
Procedural Success

Introduction: Poor catheter-to-myocardial contact can lead to ineffective ablation lesions and suboptimal outcome. Contact force (CF) sensing catheters in ventricular tachycardia (VT) ablations has not been studied for their long term efficacy. Hypothesis: The hypothesis is that CF ablation is superior to manual ablation (MAN) and non-inferior to remote magnetic navigation (RMN) ablation for safety and efficacy in acute and long term outcome. Methods: A total of 249 consecutive patients underwent VT ablation, with the use of MAN, CF or RMN catheters were included in this single center cohort study from January 2007 until March 2014. The primary endpoints were procedural success, acute major complications and VT recurrences at follow-up. The average follow-up period was ± 20 months. Results: Acute success was achieved in 191 out of 249 procedures (75.9%). Acute success in manual ablation, CF ablation and RMN ablation was 70.1%, 72.3% and 85.2% respectively (P = 0.038). Major complications occurred in 3.2% and there was a trend towards less major complications (P = 0.055) in the RMN group. Thirty-six percent of the patients with an initially successful procedure had a recurrence during follow-up (CF 41.2% MAN 37.5% RMN 32.0% P = NS). Conclusions: The use of CF sensing catheters does not improve the procedural outcome or safety profile in comparison to non-CF sensing ablation in ventricular arrhythmias. RMN non-CF sensing ablation has the highest procedural success rate. Future studies are necessary to investigate the role of CF in VT ablation and to define the optimal force.

Learning curves for transradial access versus transfemoral access in diagnostic cerebral angiography: a case series

2021 ◽  
pp. neurintsurg-2021-017460
Author(s):  
Michael K Tso ◽  
Gary B Rajah ◽  
Rimal H Dossani ◽  
Michael J Meyer ◽  
Matthew J McPheeters ◽  
...  
Keyword(s):  
Learning Curve ◽  
Case Series ◽  
Learning Curves ◽  
Fluoroscopy Time ◽  
Access Site ◽  
Steep Learning Curve ◽  
Transradial Access ◽  
Primary Operator ◽  
Technical Proficiency ◽  
Over Time

BackgroundThe perception of a steep learning curve associated with transradial access has resulted in its limited adoption in neurointervention despite the demonstrated benefits, including decreased access-site complications.ObjectiveTo compare learning curves of transradial versus transfemoral diagnostic cerebral angiograms obtained by five neurovascular fellows as primary operator.MethodsThe first 100–150 consecutive transradial and transfemoral angiographic scans performed by each fellow between July 2017 and March 2020 were identified. Mean fluoroscopy time per artery injected (angiographic efficiency) was calculated as a marker of technical proficiency and compared for every 25 consecutive procedures performed (eg, 1–25, 26–50, 51–75).ResultsWe identified 1242 diagnostic angiograms, 607 transradial and 635 transfemoral. The radial cohort was older (64.3 years vs 62.3 years, p=0.01) and demonstrated better angiographic efficiency (3.4 min/vessel vs 3.7 min/vessel, p=0.03). For three fellows without previous endovascular experience, proficiency was obtained between 25 and 50 transfemoral angiograms. One fellow achieved proficiency after performing 25–50 transradial angiograms; and the two other fellows, in <25 transradial angiograms. The two fellows with previous experience had flattened learning curves for both access types. Two patients experienced transient neurologic symptoms postprocedure. Transradial angiograms were associated with significantly fewer access-site complications (3/607, 0.5% vs 22/635, 3.5%, p<0.01). Radial-to-femoral conversion occurred in 1.2% (7/607); femoral-to-radial conversion occurred in 0.3% (2/635). Over time, the proportion of transradial angiographic procedures increased.ConclusionTechnical proficiency improved significantly over time for both access types, typically requiring between 25 and 50 diagnostic angiograms to achieve asymptomatic improvement in efficiency. Reduced access-site complications and decreased fluoroscopy time were benefits associated with transradial angiography.

P955Non-invasive mapping: what is the minimal number of electrodes needed to obtain a good spatial resolution of the activation map?

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
A L Parreira ◽  
P Carmo ◽  
P Adragao ◽  
S Nunes ◽  
J Pinho ◽  
...  
Keyword(s):  
Spatial Resolution ◽  
Median Number ◽  
Premature Ventricular Contractions ◽  
Non Invasive ◽  
Good Spatial Resolution ◽  
Mapping System ◽  
Endocardial Mapping ◽  
Median Area ◽  
Activation Map ◽  
Activation Site

Abstract Introduction and aims The 12-lead ECG is highly inaccurate for localization of the site of origin of supraventricular and ventricular arrhythmias.  Non-invasive mapping systems (ECGI) based on a high number of electrodes recording the electrical activity on the surface of the torso have already proven good accuracy for mapping different arrhythmic substrates. The aim of this study was to assess what is the minimal number of leads needed to obtain a precise mapping with the ECGI. Methods This study enrolled 14 patients (9 male, median age 50 (44-58) years) referred to our center for catheter ablation of premature ventricular contractions (PVC). Patients underwent pre-procedural ECGI using the epicardial and endocardial mapping system . This system uses the DICOM images from contrast computed tomography of the heart and up to 28 adhesive electrodes with 8 leads each, adding up to 224 body-surface leads. All patients underwent invasive electroanatomical mapping and ablation with the magnetic navigation system. We analysed the number of recording leads used to construct the non-invasive activation map of the PVCs and the accuracy and the spatial resolution of the map when comparing to the invasive map. We then reprocessed the exam, using progressively less leads until we only left the leads placed in the standard 12 lead ECG positions and evaluated the concordance with the invasive map as well as the spatial resolution. We considered an earliest activation site (EAS) area of 1 cm2 a good spatial resolution and using a ROC curve we calculated the minimal number of leads necessary to obtain a good spatial resolution. Results The median number of electrodes used for the initial map was 170 (138-177). Concordance between non-invasive and invasive site of origin occurred in 11 out of 14 patients. The results are presented in the Table. The minimal number of electrodes to have a good spatial resolution was 100. The area of EAS was significantly lower when using more than 100 leads, respectively 0.65 (0.5-1) cm2 versus 3 (1.6-5) cm2, p &lt; 0.001. Conclusions The minimal number of leads to achieve a good spatial resolution was high.  Reducing the number of leads resulted in a significant decrease in spatial resolution and a lower concordance rate. ECGI data Number of adhesive electrodes Median number of leads Amycard/Carto concordance Median area of EAS in the ECGI (cm2) Maximal nº electrodes 170 (138-177) 11/14 0.64 (0.5-0.9) 12 electrodes 76 (61-80) 11/14 1.6 (1.4-2.6) 6 electrodes (2 Ant, 2 Lat ,2 Post) 38 (32-44) 9/14 4.3 (3.2-5.4) 12 leads 12 0/14 - Ant anterior; Lat: lateral; Post: posterior; EAS: early activation site. Abstract Figure. Area of EAS according to the N of leads

scholarly journals T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Kwo Wei David Ho ◽  
Nivedita U. Jerath
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive ◽  
Clinical Effect ◽  
Case Series ◽  
Pmp22 Gene ◽  
Loss Of Function ◽  
Review Of The Literature ◽  
Partial Loss ◽  
Charcot Marie Tooth ◽  
Electrophysiological Studies

The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant. These three unrelated cases were heterozygotes with the T118M variant of the PMP22 gene. All three cases presented with painful peripheral neuropathy and varying degrees of Charcot-Marie-Tooth exam features. Electrophysiological studies revealed polyneuropathy with axonal and demyelinating features in one case, but there were minimal electrophysiological changes in the other two cases. We propose that the T118M variant can cause painful peripheral neuropathy, which may be an underrecognized feature of this variant.

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