RESUMEN
BACKGROUND: Long QT3 syndrome type 3 (LQT3) is a gain of function mutation of the SCN5A gene that is inherited in an autosomal dominant fashion. Long QT3 syndrome type 3 results in an increase in arrhythmic events during rest, sleep, and bradycardia by extending the QT interval and inducing Torsades de pointes and sudden cardiac death. Attempting to block the sodium channel with Class I anti-arrhythmics or blocking adrenergic tone with beta-blockers especially in women has shown to be beneficial. There have been few large-scale studies on treating patients with LQT3 due to its lethality and underreported number of cases. Specifically, the safety and efficacy of pharmacologic treatment in pregnant LQT3 patients are unknown. CASE SUMMARY: This case demonstrates the safe use of Mexiletine and Propranolol in a 3rd-trimester pregnant LQT3 patient after a presumed ventricular arrhythmia and device-lead electrical short from therapy rendered her implantable cardioverter defibrillator inoperable in a VVI mode (venticular demand pacing). With appropriate medications, the patient was safely monitored through the remainder of her pregnancy and safely delivered at 36 weeks of pregnancy a healthy baby girl. The daughter, heterozygous for LQT3, showed no evidence of intrauterine growth restriction or other side effects from the medications. DISCUSSION: There are many variants of the SCN5A gene mutations that can lead to different phenotypes and not all mutations are responsive to the same medications. In this case, Mexiletine and Propranolol, both of which have only recently shown to benefit certain variants or LQT3 respectively, were safely started during the 3rd trimester of pregnancy without harming the foetus.
RESUMEN
BACKGROUND: The purpose of this study was to determine if MRI surveillance is better than serum tumor makers in detecting early recurrence in patients with mucinous appendiceal neoplasm. MATERIALS AND METHODS: A total of 50 patients with appendiceal neoplasm (DPAM 11, PMCA 39) underwent abdominal and pelvic MRI prior to surgical cytoreduction and hyperthermic intraperitoneal chemotherapy (HIPEC). Patients then entered follow-up surveillance with serial MRI every 6 months and serial laboratory studies including CA 125, CEA, and CA19-9. Written reports for surveillance MRI exams were reviewed for tumor recurrence and compared with results of serial laboratory tests. Proof of tumor recurrence was by a consensus of surgery and histopathology, as well as clinical and imaging findings on serial examinations. RESULTS: During surveillance tumor recurrence was documented in 30 patients (60 %) with median time to recurrence of 13 months (range 3-56 months). MRI detected recurrent tumor in 28 patients, including 11 patients with normal laboratory values (sensitivity 0.93, specificity 0.95, accuracy 0.94, PPV 0.97, and NPV 0.90). Serial laboratory values showed tumor recurrence in 14 patients (sensitivity 0.48, specificity 1.00, accuracy 0.69, PPV 1.0, and NPV 0.57). Median survival was 50 months for 11 patients with earlier MRI detection of recurrence vs 33 months for the other 19 patients with recurrence. CONCLUSIONS: Following cytoreductive surgery and HIPEC MRI detects tumor recurrence earlier and with greater accuracy than serial tumor markers alone.
