Is Bicuspid Aortic Valve Morphology Genetically Determined? A Family-Based Study.

Bicuspid aortic valve (BAV) is a common congenital heart disease, with a 10-fold higher prevalence in first-degree relatives. BAV has different phenotypes based on the morphology of cusp fusion. These phenotypes are associated with different clinical courses and prognoses. Currently, the determinants of the valve phenotype are unknown. In this study we evaluated the role of genetics using familial cohorts. Patients with BAV and their first-degree relatives were evaluated by echocardiography. The concordance in BAV phenotype between pairs of family members was calculated and compared with the concordance expected by chance. We then performed a systematic literature review to identify additional reports and calculated the overall concordance rate. During the study period, 70 cases from 31 families and 327 sporadic cases were identified. BAV was diagnosed in 14% of the screened relatives. The proportions of the morphologies identified was: 12.3% for type 0, 66.2% for type 1-LR, 15.4% for type 1-RN, 4.6% for type 1-NL, and 1.5% for type 2. For the assessment of morphologic concordance, we included 120 pairs of first-degree relatives with BAV from our original cohort and the literature review. Concordance was found only in 62% of the pairs which was not significantly higher than expected by chance. In conclusion, our finding demonstrates intrafamilial variability in BAV morphology, suggesting that morphology is determined by factors other than Mendelian genetics. As prognosis differs by morphology, our findings may suggest that clinical outcomes may vary even between first-degree relatives.

Microhematuria as an Indicator of Significant Abdominal Injury.

BACKGROUND AND OBJECTIVES: Trauma is one of the leading causes of morbidity and mortality in the pediatric population. In many centers, microhematuria is used as a screening tool for the presence of significant abdominal injury and as an indication for further imaging. Our objective was to evaluate the role of microhematuria by dipstick as an indicator of significant abdominal injury in children. METHODS: A retrospective review of children aged 0 to 16 years admitted for a motor vehicle accident or a fall from 2007 to 2017 who had urinalyses performed. RESULTS: The charts of 655 children were reviewed. Microhematuria was found in 100 children, of whom 49 (49%), 28 (28%), and 23 (23%) had small, moderate, and large amounts of hematuria, respectively. Of the children who had microhematuria, 41 underwent a computed tomography scan. Positive findings were recorded in 16 (39%) of these patients. There was a clear association between microhematuria as detected by the urine dipstick and a significant finding on the computed tomography scan (P = 0.002). The sensitivity of microhematuria for significant abdominal pathology on imaging was 66.6% and the specificity was 68.3% (positive predictive value, 39%; negative predictive value, 87.1%). Microhematuria was associated with increased length of stay in the hospital (P < 0.001), surgical interventions (P = 0.036), and admission to the pediatric intensive care unit (P < 0.001). CONCLUSIONS: The diagnostic role of dipstick urine analysis in the assessment of intra-abdominal injury has low sensitivity and specificity. Nevertheless, it is still a valuable screening tool for the evaluation of the severity of injury.