Lemierre's Syndrome: An Atypical Presentation.

Septic thrombophlebitis is a rare diagnosis in this era of widespread antibiotic usage. The clinical diagnosis requires astute clinical suspicion and evaluation. We describe an asplenic 63-year-old woman who presented to the emergency department with a 24-hour history of a tender, swollen, right neck and upper chest wall. She denied any recent illnesses, but two years before, she was hospitalized and treated for Streptococcus pneumoniae meningitis and endocarditis. An enhanced computed tomography scan demonstrated inflammatory changes around a thrombosed right internal jugular vein, which extended to the brachiocephalic/superior vena cava junction. A retropharyngeal effusion was present, but no pulmonary or oropharyngeal abscess was identified. Lemierre's syndrome, although rare, must be recognized promptly to reduce morbidity and mortality associated with this condition.

Aortic remodeling after thoracic endovascular aortic repair for intramural hematoma.

BACKGROUND: Intramural hematoma (IMH), penetrating atherosclerotic ulcer (PAU), and aortic dissection comprise a spectrum of acute aortic pathologies. Although thoracic endovascular aortic repair (TEVAR) has increasingly been applied to aortic dissection, there is a paucity of data on the anatomic effect of TEVAR for IMH. Our goal was to investigate the extent of aortic remodeling after TEVAR. METHODS: A retrospective chart review from 2006 to 2012 was conducted on patients who underwent TEVAR for IMH. Data were collected from the electronic medical record. Radiology images were reviewed and primary data points included diameter (TLD) and volume measurements for aortic true lumen and total aortic diameter (TAD) and volume at the site of maximal pathology. Aortic remodeling was evidenced by a TAD/TLD ratio closest to 1.0. Patients with no imaging beyond 30 days postoperatively were excluded. RESULTS: During the 6-year period, 44 patients underwent TEVAR for IMH. Twenty-five patients had an IMH with concomitant PAU. There were 25 (57%) female patients. Mean age was 71 ± 11 years, and 40 (91%) patients had hypertension. Operative indications included intractable pain in 31 (70%), rapidly progressing IMH or conversion to dissection in 13 (30%), rupture in 10 (23%), and uncontrolled hypertension in 6 (14%). Technically successful TEVAR was performed in all patients with 42 (95%) reporting complete relief of symptoms. The 30-day mortality rate was 5% with a 5% rate of permanent paraplegia or paraparesis. At a mean follow-up of 26 months, there were no additional aortic-related deaths and overall survival was 80% with a reintervention rate of 11%. For our imaging analysis, 10 patients were excluded because of lack of follow-up imaging beyond 30 days. At a mean follow-up of 13 months, all measured data points were statistically improved from before to after TEVAR: thickness of IMH (12 mm vs. 4 mm; P = .01), mean TLD (35 mm vs. 37 mm; P = .04), mean TAD (47 mm vs 42 mm; P = .02), TAD/TLD ratio (1.35 vs. 1.14; P < .01), and IMH volume (103 cm3 vs. 14 cm3; P < .01). The mean Δ in TAD/TLD ratio from before to after TEVAR for the reintervention group was Δ0.14, and the mean Δ in TAD/TLD ratio for the nonreintervention group was Δ0.29 (P = .05). Analysis of patients with isolated IMH and those with concomitant PAU revealed no statistical differences. CONCLUSIONS: TEVAR is safe and effective in treating IMH and based on longitudinal computed tomography scan analysis, aortic remodeling is evidenced by normalization of all measured indices.

In situ laser fenestration during emergent thoracic endovascular aortic repair is an effective method for left subclavian artery revascularization.

BACKGROUND: Retrograde laser fenestration of the left subclavian artery (LSA) during emergent thoracic endovascular aortic repair (TEVAR) uses a relatively simple intraoperative method of endograft modification to revascularize aortic branches for a variety of acute thoracic aortic pathologies. This study presents our expanded experience and midterm outcomes of TEVAR with laser fenestration to revascularize the LSA as an alternative to debranching. METHODS: Patients who underwent TEVAR with LSA revascularization by laser graft fenestration from September 2009 through August 2012 were retrospectively reviewed. TEVAR was performed with deployment of a Dacron (DuPont, Wilmington, Del) endograft over the LSA orifice. Laser catheter fenestration of the graft was performed through retrograde brachial access, followed by balloon-expandable covered stent deployment through the fenestration to traverse the endograft and LSA. Routine postoperative follow-up imaging with computed tomography angiography was performed to assess TEVAR and LSA fenestration patency, endoleak, and aneurysm/dissection exclusion. RESULTS: TEVAR with laser fenestration was successfully performed in 22 patients (12 men; mean age, 57 years) in an urgent or emergent setting secondary to unremitting symptoms or rupture. Twelve patients had large symptomatic thoracic aortic aneurysms (eight secondary to chronic dissection); four patients had acute symptomatic type B aortic dissection, and six patients had an intramural hematoma or penetrating aortic ulcer, or both. An average of two endografts (range, 1-4) were deployed. LSA-covered stents were 8 to 10 mm in diameter. Mean operative time was 154 ± 65 minutes. Average hospital length of stay was 12 ± 7 days. No major fenestration-related complications occurred. One patient developed postoperative paraplegia. One patient died in the postoperative period, for an in-hospital mortality rate of 4.5%. Two patients died of non-TEVAR-related causes at a mean follow-up of 10 months (range, 1-40 months). Follow-up computed tomography angiography imaging demonstrated a 100% primary patency for the LSA stents. One patient had an asymptomatic LSA stent stenosis. Type II endoleaks from the LSA in two patients required endovascular coil embolization. No fenestration-related type I or III endoleaks were noted. CONCLUSIONS: In situ retrograde laser fenestration is a feasible and effective option for LSA revascularization during TEVAR involving a spectrum of acute thoracic aortic pathology. Laser fenestration provides a rapid, reproducible method of fenestrating the endograft material. The high technical success, low fenestration-related morbidity, and excellent midterm patency support this technique of intraoperative endograft modification.

A novel bulk-culture method for generating mature dendritic cells from mouse bone marrow cells.

We established a novel culture method for generating dendritic cells (DC) from mouse bone marrow (BM) cells. Unfractionated bulk BM cells were cultured in the presence of granulocyte-macrophage colony-stimulating factor (GM-CSF) and interleukin-4 (IL-4) for 5-7 days and a DC population was isolated by gradient centrifugation with 14.5% (w/v) metrizamide. Through this method, 30-40 x 10(6)/mouse DC with 85-95% purity was obtained on day 7; this yield was higher than those of conventional DC generated by Inaba's method either with GM-CSF alone (conventional-GM DC) or GM-CSF and IL-4 (conventional-GM/4 DC). Bulk-cultured DC have a more matured phenotype than both conventional-GM and -GM/4 DC as shown by higher expression of CD86, MHC class II and CD40. Functional analyses reveal that (1) bulk-DC show less ability in endocytosis than conventional-GM DC and are comparable in IL-12 p70 production with conventional-GM and -GM/4 DC. (2) Bulk-DC exhibit stronger stimulatory capacity in allogeneic T-cell proliferation than conventional DC. (3) By using ovalbumin (OVA) and OVA-specific T-cell receptor (TCR) transgenic mice (DO11.10) system, OVA protein-loaded bulk-DC stimulated CD4 T cells of DO11.10 mice more than conventional-GM DC and comparable with conventional-GM/4 DC. (4) Furthermore, OVA peptide-pulsed bulk-DC stimulated CD4 T cells more than conventional-GM and -GM/4 DC. These data indicate that bulk-DC are functionally more mature than conventional DC. Taken together, bulk-culture method is a simple technique for generating functionally mature BM-DC in large quantities and high purity.

Neuroblastoma and dendritic cell function.

Neuroblastoma, the most common extracranial solid tumor of childhood, remains a challenge for clinicians and investigators in pediatric surgical oncology. The absence of effective conventional therapies for most patients with neuroblastoma justifies the application of novel, biology-based, experimental approaches to the treatment of this deadly disease. The observation that some aggressive neuroblastomas, particularly in infants, may spontaneously regress suggested that immune-mediated mechanisms may be important in the biology of this disease. Advances in the understanding of the cognate interactions between T cells, antigen-presenting cells and tumors have demonstrated the sentinel role of dendritic cells (DC), the most potent antigen presenting cells, in initiating the cellular immune response to cancer. Until recently the function of DC in pediatric solid tumors, especially neuroblastoma, had not been extensively studied. This review discusses the role of DC in initiating and coordinating the immune response against cancer, the ability of neuroblastoma to induce DC dysregulation at multiple levels by inhibiting DC maturation and function, and the current vaccine strategies being designed to employ the unique ability of DC to promote neuroblastoma regression.

Transitioning to thoracic endovascular repair: a single institution's analysis of the management of blunt aortic injury.

Over the past 15 years, there has been a rapid transformation in the way blunt aortic injuries (BAIs) are managed shifting from open thoracotomies to thoracic endovascular repairs (TEVAR). As a result of this change, we sought to describe our experience with open and endovascular repairs through a retrospective analysis of all trauma patients admitted with BAI to our Level I trauma center from 2002 to 2011. Demographic data, type of repair, complications, length of stay (LOS) data, and mortality were identified. No difference was noted in age, sex, Injury Severity Score, or Glasgow Coma Scale score between the two groups. There were also no differences in the number of acute complications or mortality. Intensive care unit (ICU) LOS was significantly shorter in the TEVAR group (20 vs 9 days, P < 0.05). Additionally, there was a trend toward shorter hospital LOS (28 vs 18 days, P = 0.07) and ventilator length of stay (12 vs 5 days, P = 0.171). In summary, endovascular repair of BAI is safe and has no increased rate of acute complications or mortality. ICU LOS is much shorter with TEVAR, and there was a trend toward shorter ventilator and hospital LOS, all of which may result in decreased cost. Still, more needs to be learned about potential long-term complications.

Dysmorphology of chest wall deformities: frequency distribution of subtypes of typical pectus excavatum and rare subtypes.

BACKGROUND/PURPOSE: More than forty percent of patients with pectus excavatum have a family history of chest deformity. However, no studies of the frequency of the different phenotypes of pectus excavatum have been published. METHODS: A random sample of 300 non-syndromic pectus excavatum patients, from the chest wall deformities clinic at Children's Hospital of The King's Daughters in Norfolk, Va., was studied and classified according to a previously described classification system. Photographs and computed tomography (CT) scans were utilized. RESULTS: Typical pectus excavatum. Photo data: localized deep depression (cup-shaped) deformity occurred in 67%; diffuse (saucer-shaped) 21%, trench-like (furrow-shaped) 10%, and Currarino-Silverman (mixed pectus excavatum/chondromanubrial carinatum) 1%. The deepest point was to the right of midline in 80%, left in 10% and central in 10%. By photo, the deepest point was in the lower sternum in 75%. When asymmetric, the deepest point of the deformity was to the right of midline in 90%. CT data: the average Haller index was 4.9. Severe sternal torsion (>30 degrees) was associated with greater Haller index (6.3) than mild torsion (4.5). The deepest point of the depression was at the mid- or lower sternum in more than 99%. It proved impossible to estimate width or length of the depression because of poorly defined borders. CONCLUSIONS: Typical PE is cup-shaped in 67% of cases, to the right of the midline in 80%, and involving the mid-to-lower sternum in 99%. However, other phenotypes, like the saucer and long trench, comprised one-third. Definition of the deformity is more reliable by CT scan.

Optoelectronic plethysmography demonstrates abrogation of regional chest wall motion dysfunction in patients with pectus excavatum after Nuss repair.

PURPOSE: We previously demonstrated that patients with pectus excavatum (PE) have significantly decreased chest wall motion at the pectus defect compared with the rest of the chest vs unaffected individuals and use abdominal respiratory contributions to compensate for decreased upper chest wall motion. We hypothesize that PE repair will reverse chest wall motion dysfunction. METHODS: A prospective, institutional review board-approved study compared patients with PE before and after Nuss repair. Informed consent was obtained before motion analysis. Sixty-four patients with uncorrected PE ages 10 to 21 years underwent optoelectronic plethysmography analysis. Repeat analysis was performed in 42 patients 6 months postoperative (PO). RESULTS: Volume of the chest wall and its subdivisions were calculated. Total chest wall volume at rest was significantly increased after repair and in each thoracic compartment. PO patients developed increased midline marker excursion at the pectus defect and significantly decreased excursion at the level of the umbilicus. CONCLUSIONS: Optoelectronic plethysmography kinematic analysis demonstrates that chest wall remodeling during Nuss repair results in increased thoracic volume. Chest wall motion dysfunction at the pectus defect is reversed after Nuss repair. Abdominal respiratory contributions are also markedly decreased. These findings may help to explain why patients with PE report an improvement in endurance after the Nuss procedure.

One hundred patients with recurrent pectus excavatum repaired via the minimally invasive Nuss technique--effective in most regardless of initial operative approach.

PURPOSE: Controversy exists as to the best operative approach to use in patients with failed pectus excavatum (PE) repair. We examined our institutional experience with redo minimally invasive PE repair along with the unique issues related to each technique. METHODS: We conducted an institutional review board-approved review of a prospectively gathered database of all patients who underwent minimally invasive repair of PE. RESULTS: From June 1987 to January 2010, 100 patients underwent minimally invasive repair for recurrent PE. Previous repairs included 42 Ravitch (RAV) procedures, 51 Nuss (NUS) procedures, 3 Leonard procedures, and 4 with previous NUS and RAV repairs. The median Haller index at reoperation was 4.99 (range, 2.4-20). Fifty-five percent of RAV patients and 25% of NUS patients required 2 or more bars (P = .01). Two RAV patients had intraoperative nonfatal cardiac arrest owing to thoracic chondrodystrophy--1 at insertion and 1 upon removal. Bar displacements occurred in 12% RAV and 7.8% NUS patients (P = .05). Overall reoperation for bar displacement is 9%. CONCLUSIONS: The minimally invasive NUS technique is safe and effective for the correction of recurrent PE. Patients with prior NUS repair can have extensive pleural adhesions necessitating decortication during secondary repair. Patients with a previous RAV repair may have acquired thoracic chondrodystrophy that may require a greater number of pectus bars to be placed at secondary repair and greater risk for complications. We have a greater than 95% success rate regardless of initial repair technique.

Regional chest wall motion dysfunction in patients with pectus excavatum demonstrated via optoelectronic plethysmography.

BACKGROUND: Paradoxical chest wall motion is recognized clinically in pectus excavatum (PE). We report chest wall volume and motion differences between PE patients and unaffected individuals. METHODS: A prospective, institutional review board-approved study compared nonoperated PE patients with normal controls (C). Subjects had deep breathing maneuvers captured by infrared cameras. Chest wall volume and excursion were calculated using optoelectronic plethysmography marker reconstruction combined with proprietary software (BTS Bioengineering, Milan, Italy). RESULTS: One hundred nineteen patients underwent optoelectronic plethysmography analysis (PE: 64, C: 5). Total chest wall volume at rest was similar in both groups (PE: 13.6 L, C: 14.1 L, P = .55). During maximal inspiration, PE patients had a significant increase in the volume within the abdominal rib cage compartment (PE: 0.77 L, C: 0.6 L, P < .01). Patients with PE had 51% less midline marker excursion at the angle of Louis (P < .01), a 46% decrease at the level of the nipples (P < .01), and 28% less excursion at the xiphoid process (P = .02). At the level of the umbilicus, PE patients had 147% increase in midline marker excursion compared with controls (P < .01). CONCLUSIONS: Optoelectronic plethysmography kinematic analysis allows for quantification of focal chest wall motion dysfunction. Patients with PE demonstrate significantly decreased chest wall motion at the area of the pectus defect and increased abdominal contributions to respiration compared with controls. This finding may help to explain exertional symptoms of easy fatigability or shortness of breath in PE.

Minimally invasive repair of pectus excavatum in patients with Marfan syndrome and marfanoid features.

PURPOSE: The presence of a pectus excavatum (PE) requiring surgical repair is a major skeletal feature of Marfan syndrome. Marfanoid patients have phenotypic findings but do not meet all diagnostic criteria. We sought to examine the clinical and management differences between Marfan syndrome patients and those who are marfanoid compared with all other patients undergoing minimally invasive PE repair. METHODS: A retrospective institutional review board-approved review was conducted of a prospectively gathered database of all patients who underwent minimally invasive repair of PE. Patients were grouped according to diagnosis of Marfan syndrome (MAR), Marfanoid appearance (OID), and all others (ALL). Patient demographics, preoperative imaging and testing, operative strategy, complications, and postoperative surveys were evaluated. Fisher's Exact test and chi(2) were applied for statistical analysis. RESULTS: From June 1987 to September 2008, 1192 patients underwent minimally invasive PE repair (MAR = 33, OID = 212, ALL = 947). There was a significantly higher proportion of females with either MAR or OID who underwent repair (21.5%vs 15.5%, P = .04). The MAR patients had significantly more severe PE determined by computed tomography index (MAR = 8.75, OID = 5.82, ALL = 4.94, P < .0001) and required multiple pectus bars (> or =2) to be placed during operation (MAR = 58%, OID = 36%, ALL = 29%, P = .001). There was a trend toward higher wound infection rates in MAR patients (MAR = 6%, OID = 1.4%, ALL = 1.3%, P = .07). The recurrence rate was similar among all groups (MAR = 0%, OID = 2%, ALL = 0.7%, P = .12). Successful outcome from surgeon perspective in either MAR or OID patients was similar to ALL (98%vs 98%, P = .88) and correlated well with patient satisfaction after repair (96%vs 95%, P = .43). CONCLUSIONS: Minimally invasive PE repair is safe in patients with Marfan syndrome or marfanoid features with equally good results. Patients with Marfan syndrome have clinically more severe PE requiring multiple bars for chest repair and may have slightly higher wound infection rates. Patients are satisfied with minimally invasive repair despite a phenotypically more severe chest wall defect.

Neuroblastoma-induced inhibition of dendritic cell IL-12 production via abrogation of CD40 expression.

BACKGROUND/PURPOSE: CD40 expression by dendritic cells (DCs) critically regulates their maturation/antitumor activity. CD40-CD40 ligand (CD40L) signaling stimulates DC-mediated IL-12 production/cytotoxicity. Recent studies suggest that neuroblastoma (NB)-derived gangliosides impair DC maturation, IL-12 secretion, and NK/T-cell activity. Neuroblastoma ganglioside-mediated abrogation of CD40 expression by DC and tumor-induced tolerance has not been studied. The purpose of this study is to determine if NB inhibits DC IL-12 production via CD40. The contributory role of the NB-derived ganglioside GM3 in this process is also examined. METHODS: Dendritic cells were generated from bone marrow of mice injected with saline (control) or murine NB. Control DCs were matured with or without GM3. Dendritic cells were cocultured with NB cells treated with or without a ganglioside synthesis inhibitor. Dendritic cell groups were analyzed for maturation/costimulatory markers. Control and tumor-derived DC were stimulated with CD40L or Staphylococcus aureus and studied for IL-12 expression. RESULTS: CD40 expression on DC generated from NB bearing mice decreased by 64% (P < .001). GM3 down-regulated DC maturation and CD40 expression. Only CD40-dependent IL-12 production was abrogated (60%, P < .01) in DC derived from NB-bearing mice. Dendritic cell capacity to synthesize IL-12 remained intact. CONCLUSIONS: Neuroblastoma-induced inhibition of DC function may result from ganglioside-mediated CD40 signaling deficiency. Strategies to bypass/augment CD40-CD40L signaling may improve current NB immunotherapies.

Advanced neuroblastoma impairs dendritic cell function in adoptive immunotherapy.

BACKGROUND/PURPOSE: The authors previously described the complete regression of established neuroblastoma (NB) by the adoptive transfer of syngeneic interleukin-12 transduced dendritic cells (DC) from naive mice. However, some malignancies, like NB, abrogate DC immunostimulation. The authors hypothesize that IL-12 transduction of DC from NB-bearing mice will have the same antitumor properties. METHODS: A/J mice (n = 32) with established NB received peritumoral injection of 1 x 10(6) DC (DC, IL-12 DC, day 7 IL-12 DC or day 14 IL-12 DC) on day 7. Tumor growth, phenotype, and ability to induce NK and T cell activity were measured. RESULTS: Vaccination with naive admIL-12 DC resulted in 100% tumor regression and prolonged survival. Transduced DC induced only partial responses in 75% (day 7) and 25% (day 14) of animals. No differences in phenotype or effector cell activation were noted between admIL-12DC in tumor-bearing or naive mice. CONCLUSIONS: IL-12 DC from tumor-bearing animals have a decreased ability to induce antitumor activity against established murine NB. This decreased capacity appears to be related to the duration of exposure to tumor because day 14 transduced DC had less of an effect than day 7 DC, despite similar phenotypes and ability to activate immune effector cells.

Synergistic interleukin-18 and low-dose interleukin-2 promote regression of established murine neuroblastoma in vivo.

BACKGROUND/PURPOSE: Severe systemic toxicities have limited the clinical applications of the potent cytokine, interleukin-2 (IL-2). Recent studies have shown that IL-18 synergizes with IL-2 to enhance cytolytic activity in vitro. Combination therapy allows for IL-2 dose reduction, thus, limiting its toxicity while augmenting natural killer cell activity. The authors hypothesize that IL-18 plus low-dose IL-2 may induce a potent and sustained antitumor response in vivo providing effective immunotherapy for neuroblastoma. METHODS: Four groups of A/J mice (n = 28) were inoculated subcutaneously in the right flank with 1 x 10(6) murine neuroblastoma cells (TBJ). On day 7, 5 consecutive daily peritumoral injections were performed with saline (control), human rIL-2 (30,000 IU), murine IL-18 (1 microg), or IL-2 plus IL-18. Tumor growth was monitored, and animals with tumor progression were killed on day 21. Seven weeks after the initial treatment, animals with rejected tumors were rechallenged with 5 x 10(6) cells in the opposite flank. Quantitative data were analyzed by Student's t test. RESULTS: Rapid tumor growth and death was noted in all control animals by 21 days. Complete tumor eradication was seen in 28% of mice treated with IL-2 (P =.03), 42% of mice treated with IL-18 (P <.05), and 57% of mice treated with of IL-2 plus IL-18 (P <.05). Despite the initial response, all animals failed rechallenge and developed new or recurrent tumors within 7 to 10 days. CONCLUSIONS: Coadministration of low-dose IL-2 plus IL-18 induced a potent primary response to murine neuroblastoma likely caused by activation of natural killer cells in the tumor microenvironment. This combined cytokine therapy strategy was unable to induce sustained immunity to rechallenge. However, dendritic cell vaccination combined with IL-2 plus IL-18 cytokine treatment did allow for the establishment of a complete and durable antitumor response.

Cellular mechanisms of interleukin-12-mediated neuroblastoma regression.

BACKGROUND/PURPOSE: Interleukin-12 (IL-12) is a proinflammatory cytokine with potent antitumor effects. Previous studies from the authors laboratory showed regression of established neuroblastoma in mice vaccinated with IL-12 transduced dendritic cells (DC). Although regression was associated with intense T cell infiltration, the precise role of T cells is unknown. The purpose of this work is to study the cellular mechanisms in IL-12-mediated tumor regression. METHODS: Three groups of mice (n = 12) received subcutaneous inoculation with 1 x 10(6) murine neuroblastoma cells (TBJ). Anti-CD4 (T helper), anti-CD8 (T cytotoxic), or antiasialo-GM1 (natural killer) antibodies were injected intravenously at 3-day intervals to deplete various immune effector cell populations. Mice in each depletion group and the control (nondepleted) group were injected intratumorally on day 7 with 1 x 10(6) DC IL-12-transduced DC. Tumors were harvested for morphometry and immunohistochemistry at 21 days. RESULTS: CD4 depletion had no effect on tumor growth in either control or IL-12-vaccinated animals. In contrast, CD8-depleted animals treated with IL-12-transduced DC underwent initial regression followed by progressive tumor growth (P <.01). These tumors were smaller in size at the same time-point. However, NK cell depletion (antiasialo GM1) completely abrogated the antitumor effects of IL-12-transduced DC, leading to progressive tumor growth from the outset. There was no difference between the control and treated animals in this group. CONCLUSIONS: Contrary to our hypothesis that IL-12 DC primarily function to stimulate a T cell-mediated response, these data suggest that NK cells are essential for the initial antitumor response of animals treated with IL-12-transduced DC. CD8+ T cells appear to be necessary effector cells for complete rejection of tumor and possibly memory. NK cells are responsible for the early immune response. Furthermore, CD4+ (T helper) cells did not play any role in IL-12-induced regression. These results imply that for DC to generate an effective antitumor response against neuroblastoma both acquired and innate effector cells are required.

Dismorfología de las deformidades de la pared torácica: distribución de frecuencias de los subtipos de pectus excavatum típico y subtipos poco comunes / Dysmorphology of Chest Wall Deformities: Frequency Distribution of Subtypes of Typical Pectus Excavatum and Rare Subtypes

Antecedentes/Objetivo: Más del 40% de los pacientes con pectus excavatum tienen antecedentes familiares de una deformidad torácica. Sin embargo, no se han publicado estudios de la frecuencia de los diferentes fenotipos de pectus excavatum. Métodos: Se estudió una muestra aleatoria de 300 pacientes con pectus excavatum no sindrómico de la clínica de deformidades de la pared torácica del Children's Hospital of the King's Daughters de Norfolk (Virginia, Estados Unidos) y se clasificó a los pacientes según un sistema descrito con anterioridad. Se utilizaron para ello fotografías e imágenes de tomografía computarizada (TC). Resultados: Pectus excavatum típico. Datos fotográficos: se observó una deformidad con depresión profunda localizada (forma de taza) en el 67% de los casos, difusa (en forma de platillo) en el 21%, de tipo trinchera (en forma de surco) en el 10%, y de tipo Currarino-Silverman (deformidad mixta de pectus excavatum/pectus carinatum condromanubrial) en el 1%. El punto más profundo se encontraba a la derecha de la línea media en el 80% de los casos, a la izquierda en el 10% y en el centro en el 10%. En las fotografías, el punto más profundo se encontraba en la parte inferior del esternón en el 75% de los casos. Cuando había asimetría, el punto más profundo de la deformidad estaba a la derecha de la línea media en el 90% de los casos. Datos de TC: la media del índice de Haller fue de 4,9. La torsión esternal intensa (>30 grados) se asoció a un índice de Haller más alto (6,3) que el observado en la torsión leve (4,5). El punto más profundo de la depresión se encontraba en la parte media o baja del esternón en más del 99% de los casos. Resultó imposible estimar la anchura o la longitud de la depresión, ya que los límites estaban mal definidos (AU)

Conclusiones: El pectus excavatum típico tiene forma de copa en el 67% de los casos, se encuentra a la derecha de la línea media en el 80% y afecta a la parte media o baja del esternón en el 99%. Sin embargo, otros fenotipos, como el de forma de platillo y el de trinchera larga, constituyeron una tercera parte del total. La definición de la deformidad es más fiable mediante la TC (AU)

Background/Purpose: More than forty percent of patients with pectus excavatum have a family history of chest deformity. However, no studies of the frequency of the different phenotypes of pectus excavatum have been published. Methods: A random sample of 300 non-syndromic pectus excavatum patients, from the chest wall deformities clinic at Children's Hospital of The King's Daughters in Norfolk, VA, was studied and classified according to a previously described classification system. Photographs and computed tomography (CT) scans were utilized. Results: Typical pectus excavatum. Photo data: localized deep depression (cup-shaped) deformity occurred in 67%; diffuse (saucer-shaped) 21%, trench-like (furrow-shaped) 10%, and Currarino-Silverman (mixed pectus excavatum/chondromanubrial carinatum) 1%. The deepest point was to the right of midline in 80%, left in 10% and central in 10%. As per the photograph, the deepest point was in the lower sternum in 75%. When asymmetric, the deepest point of the deformity was to the right of midline in 90%. CT data: the average Haller index was 4.9. Severe sternal torsion (>30°) was associated with greater Haller index (6.3) than mild torsion (4.5). The deepest point of the depression was at the mid- or lower sternum in more than 99%. It proved impossible to estimate width or length of the depression because of poorly defined borders. Conclusions: Typical PE is cup-shaped in 67% of cases, to the right of the midline in 80%, and involving the mid-to-lower sternum in 99%. However, other phenotypes, like the saucer and long trench, comprised one-third. Definition of the deformity is more reliable by CT scan (AU)