Surgical Decision Making in the BRCA‐Positive Population: Institutional Experience and Comparison with Recent Literature

A retrospective study was performed to document the uptake and extent of surgical intervention in patients with a known mutation in the BRCA1/2 genes and associated outcomes. Data were collected retrospectively on BRCA‐positive patients with and without cancer at the time of genetic testing. Our findings were compared to those published in the current literature. Of patients with cancer at testing, 61% chose bilateral mastectomies. Of patients without cancer, 54% chose risk‐reducing surgery (RRS) including risk‐reducing mastectomy (RRM), risk‐reducing salpingo‐oophorectomy (RRSO), or both. Time to surgery was significantly shorter to RRSO than to RRM. The literature suggests and our data support that acceptance of RRM in the BRCA‐positive population has gradually increased over time. Consistently high rates of RRSO uptake and short intervals from time‐of‐testing to RRSO demonstrate that RRSO is still more acceptable to this population than RRM.     

A multidisciplinary approach to prenatal treatment of congenital long QT syndrome

A 27‐week fetus evaluated for bradycardia and hydrops was found to have anti‐SSA‐negative 2° atrioventricular block and ventricular tachycardia. A presumptive diagnosis of fetal long QT syndrome was made. Transplacental pharmacotherapy with intravenous magnesium and lidocaine restored sinus rhythm. At 30 6/7 weeks, the infant was delivered due to premature labor. Despite postnatal treatment with mexiletine and propranolol, she developed torsades de pointes. Ultimately, a de novo KCNH2 G628S mutation was diagnosed. She received an implantable cardiac defibrillator at 5 months of age. Early diagnosis and a multidisciplinary approach allowed successful in utero treatment and anticipatory postnatal management. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45 :168–170, 2017