Anomalous Aortic Origin of a Coronary Artery With an Interarterial Course Should Family Screening Be Routine?

ObjectivesWe sought to present cases of familial occurrence of anomalous aortic origin of a coronary artery with an interarterial course (AAOCA) to determine if it would alter our current screening and management recommendations.BackgroundAnomalous aortic origin of a coronary artery with an interarterial course is a rare congenital anomaly that carries an increased risk of sudden death in children and young adults. There are no reports in the literature of familial AAOCA in the pediatric population.MethodsIn preparation for a multi-institutional prospective study evaluating patient management and surgical outcomes in children and young adults with AAOCA, a questionnaire was sent to multiple pediatric institutions in North and South America. Several respondents indicated caring for families with more than 1 member with AAOCA. These patients were identified and charts were retrospectively reviewed.ResultsWe identified 5 families in which a child was diagnosed with AAOCA and another family member was subsequently identified through screening with echocardiography. The odds of this occurring are significantly greater than what would be expected by chance. All identified by screening were asymptomatic and had anomalous right coronary artery despite 2 of the 5 index cases having anomalous left coronary artery.ConclusionsIt is possible that there is a genetic link for AAOCA. Future research into this is warranted. Due to the potential risk of myocardial ischemia and sudden death associated with AAOCA, screening first-degree relatives for AAOCA using transthoracic echocardiography would be the prudent approach to potentially prevent a sudden catastrophic event

ASHG Position Statement : The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

© 2019 American Society of Human Genetics. This manuscript version is made available under the CC-BY-NC-ND 4.0 license: http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 6 month embargo from date of publication (April 2019) in accordance with the publisher’s copyright policyThe evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant’s clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection