Type A Aortic Dissection Caused by Loeys-Dietz Syndrome with Novel Variation.

Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder that can lead to aortic aneurysm and dissection. There are 5 different types caused by mutations in TGFßR1 (transforming growth factor ß receptor), TGFßR2, SMAD3, TGFß2 (transforming growth factor ß), and TGFß3 respectively. The prevalence of LDS is estimated to be less than 1 in 100,000. There is considerable variability in the phenotype of LDS, from mild features to severe systemic abnormalities. There is overlap in the manifestations of LDS and Marfan syndrome, including increased risk of ascending aortic aneurysm and aortic dissection, as well as abnormally long limbs and fingers. Management can be very challenging with a high risk of complications with revascularization. We report a 60-year-old female who presented with a type A aortic dissection that originated from the aortic root and extended to the bilateral common femoral arteries. Genetic testing revealed a novel alteration of the TGFßR1 gene (c689 C>A in exon 4) that to our knowledge has not been previously reported or found in large population cohorts. She was managed through a Bentall procedure that was complicated by a graft tear and stenosis of the distal anastomosis site, in addition to requiring a temporary pacemaker implantation and hemodialysis after the procedure. Ultimately, the patient was able to recover fully.

Intraoperative electrical stimulation for persistent, post-traumatic facial paralysis.

Approximately 7-10% of temporal bone fractures result in facial nerve paralysis. Treatment is dependent upon the severity of the nerve trauma and can range from conservative medical management to surgical intervention. A study by Hato et al. detailed the relationship between surgical timing and recovery rate for patients with facial nerve palsy secondary to temporal bone trauma. The rates of complete recovery and good recovery decline that the longer surgical intervention is delayed. We present the case of a 14-year-old male with a temporal bone fracture and delayed onset right-sided facial paralysis. This patient was treated with a transmastoid middle cranial fossa (MCF) approach with intraoperative electrical stimulation of the perigeniculate portion of the facial nerve. Despite a 53-day delay between trauma and surgical intervention, the patient's facial function improved from House Brackmann (HB) grade VI to grade II within 6 months. Intraoperative facial nerve stimulation, which we have previously used for unresolved Bell's palsy, may be useful for patients with post-traumatic, persistent facial paralysis.

Assessing Surgical Approaches for Acoustic Neuroma Resection: Do Patients Perceive a Difference in Quality-of-Life Outcomes?

OBJECTIVE: The objective of this study is to further patient-physician discussion regarding postoperative quality of life expectations after surgical acoustic neuroma resection. STUDY DESIGN: This study is retrospective prospective. Qualifying patients were identified and administered Penn Acoustic Neuroma Quality-of-Life (PANQOL) Scale. SETTING: The setting was Loyola University Chicago Health System. PATIENTS: Three hundred twenty-six patients at our center with surgically resected acoustic neuroma between January 1990 and July 2021 completed the PANQOL. INTERVENTIONS: During postresection follow-up visits, patients were administered the PANQOL survey. MAIN OUTCOME MEASURES: The total PANQOL is comprised of questions addressing quality of life in seven domains of hearing, balance, face, energy, pain, health, and anxiety. Univariate and multivariable analyses were performed to test for associations between surgical approach and/or patient characteristics. RESULTS: Patients who were treated with retrosigmoid approach reported slightly higher PANQOL pain scores when compared with translabyrinthine approach. No association was found between responses on hearing PANQOL and surgical approach. No association was found between approach and total PANQOL score. However, on average female patients reported lower total PANQOL compared with male patients. CONCLUSION: The lack of association between patient response on hearing PANQOL and surgical approach illustrates the impact of preoperative patient counseling in appropriately setting patient expectations. The difference in pain PANQOL response may be due to a higher rate of occipital neuralgia due to incision placement and soft tissue retraction in the retrosigmoid patient group. Surgeons may consider alternative surgical incisions and soft tissue dissection to improve patient's quality of life with respect to postoperative pain.

Peak troponin predicts successful weaning from VA ECMO in patients with acute myocardial infarction complicated by cardiogenic shock.

BACKGROUND: In patients treated for refractory cardiogenic shock (RCS) following acute myocardial infarction (AMI), predicting successful weaning from veno-arterial extracorporeal membrane oxygenation (VA ECMO) has important implications for decision-making and prognosis. METHODS: We performed a retrospective review of adult VA ECMO patients with RCS complicating AMI at our institution from 2010 to 2019. We evaluated use of peak troponin I as a predictor of successful decannulation. RESULTS: Sixty-two patients were analyzed; mean age 61.1 ± 9.8 years, 73% males, 62% presented with STEMI. Forty-five patients were successfully weaned (group I). Seventeen patients did not wean (group II); seven patients received a durable LVAD, 10 died. Patients from group I had significantly lower peak troponin I (89 vs 434 ng/mL, p = 0.0001). Receiver operating characteristic curves showed a peak troponin I cutoff of 400 ng/mL correctly classified patients by weaning status 90% of the time, with associated sensitivity of 71% and specificity of 98%. With each 50 ng/mL increase in troponin I, the likelihood of weaning decreased by 33%. CONCLUSIONS: Peak troponin I above 400 ng/mL may be helpful in predicting unsuccessful weaning from VA ECMO support for refractory cardiogenic shock following myocardial infarction and facilitate triage decisions regarding need for advanced therapies.

Survivors of veno-arterial membrane oxygenation have good long-term quality of life.

Veno-arterial extracorporeal membrane oxygenation (VA ECMO) is used for the management of acute cardiogenic shock with improving short term survival. However, the long-term quality of life (QOL) of this patient population is not well characterized. We prospectively evaluated the QOL of adult patients who survived VA ECMO support for cardiogenic shock at our institution between October 2011 and January 2018 with the Minnesota Living with Heart Failure Questionnaire (MLWHFQ). We surveyed survivors at 3, 6, and 9 months after discharge, and annually for up to 5 years thereafter. A total of 64 patients were evaluated: mean age 54 ± 13 years, 73% male. There were 178 total surveys completed. MLWHFQ total scores significantly improved over time and this pattern was sustained (51.7 ± 25.3 at 3 months, vs 37.7 ± 23.6 at 6 months, vs 25.4 ± 21.3 at ⩾9 months (p < 0.01, p-trend < 0.01)). Most patients supported with VA ECMO for cardiogenic shock who survive to discharge demonstrate excellent quality of life, 6 months since index hospitalization, which is maintained over subsequent years.