RESUMEN
We present a 22-week fetus with isolated absent aortic valve and inverse circular shunt. The pregnancy was interrupted. Here, echocardiography and pathology images demonstrate this rare entity. Whole genome sequencing revealed a potentially disease-causing variant in the APC gene. Whole genome sequencing should be considered in severe and rare fetal diseases. (Level of Difficulty: Advanced.).
RESUMEN
Left pulmonary artery slings and vascular rings are rare congenital anomalies definable by fetal echocardiography. Left pulmonary artery slings are associated with high respiratory morbidity and mortality. Prenatal diagnosis of a left pulmonary artery sling should prompt delivery planning for postnatal management at a pediatric tertiary care center.
RESUMEN
OBJECTIVE: The aim of this study was to characterize the cardiovascular and musculoskeletal systems of elite volleyball players, including aortic dimensions. Previous studies have shown that the upper limit of normal aortic sinus diameter for male and female athletes is 4 and 3.4 cm, respectively. DESIGN: Cross-sectional analysis. SETTING: United States Olympic Volleyball Training Facility and Rady Children's Hospital San Diego. PARTICIPANTS: Seventy (37 male) members of the US national volleyball team. MAIN OUTCOME MEASURES: Athletes underwent evaluation that included medical and family histories, targeted physical examinations specifically focusing on abnormalities present in Marfan syndrome (MFS), and transthoracic echocardiograms. Cardiac chamber and great artery size, valve function, and coronary artery origins were assessed. RESULTS: Three male athletes (8%) had an aortic sinus diameter ≥4 cm, one of whom also had an ascending aorta >4 cm. Two female athletes (6%) had aortic sinus diameter ≥3.4 cm, and another had an ascending aorta of 3.4 cm. There were no other intracardiac or arterial abnormalities. Individual musculoskeletal characteristics of MFS were common among the athletes but not more frequent or numerous in those with aortic dilation. CONCLUSIONS: The prevalence of aortic root dilation in this population of athletes was higher than what has previously been reported in other similar populations. Further study is needed to determine whether these represent pathological changes or normal variations in tall athletes. CLINICAL RELEVANCE: This study adds to the existing knowledge base of athlete's heart, with specific attention to aortic dimensions in elite volleyball players. The data are relevant to similar athletes' medical care and to preparticipation cardiac screening in general.
