adult atherosclerotic cardiovascular disease burden Familial Screening (General) Cardiovascular abnormalities may have underlying genetic etiologies with variable degrees of inheritance and penetrance As such, familial cardiovascular screening may be indicated to identify affected family members as well as the extent of familial involvement Two broad categories in which familial screening is indicated are aortopathies and cardiomyopathies Inherited aortopathies have many different etiologies with bicuspid aortic valve (BAV) being the most common BAV is the most common congenital heart defect with a prevalence in the adult population of 0.5% to 2%.116–124 BAV falls into the spectrum of left-sided heart lesions and can occur in isolation or with other left-sided lesions such as coarctation of the aorta, mitral valve abnormalities, and hypoplastic left-heart syndrome In addition, it can be found in patients with connective tissue disorders, such as Marfan or Loeys-Dietz, and genetic syndromes, such as Turner and Williams syndrome The morphologically abnormal aortic valve may have normal function in the pediatric patient, but may also be stenotic and/or insufficient Although progressive valve dysfunction is common in patients with a BAV, aortic root and/or ascending aortic dilation is present in approximately 50% of adults.123 BAV with aortic aneurysm is a risk factor for developing aortic dissections, which carry a high morbidity and mortality.125 Familial clustering of BAV with or without aortic dilation has been demonstrated in multiple studies The prevalence of BAV in first-degree relatives is approximately 9%.120 Because of the potential for significant morbidity and mortality related to BAV and asymptomatic aortic dilation leading to dissection, current guidelines recommend echocardiographic screening in adults for all firstdegree relatives with BAV.126 In the pediatric population, BAV is often discovered due to a murmur that may be related to aortic valve dysfunction As such, screening of first-degree relatives is often recommended at the time of diagnosis of the pediatric patient with BAV Cost-benefit analysis has suggested that while cost of screening of siblings is moderate, the benefits of early diagnosis and surveillance support screening of siblings of patients with BAV outweigh the cost.127 One of the challenges in these recommendations is when adult and pediatric providers are separated clinically, and neither may recommend screening in the “other” age range The genetics of left-sided heart lesions, including BAV, are not fully understood Studies have shown that aortic root dilation in the presence of a normal aortic valve is prevalent in 32% of first-degree relatives of patients with BAV.128 In families of patients with hypoplastic left-heart syndrome, at least one other cardiovascular malformation was found in 27% of families studied.129 Because of findings such as these, it is reasonable to consider not only an initial screening of first-degree relatives, but also periodic long-term screening to assess for progressive aortopathies This, however, has not become a standard guideline While aortopathy, progressive aortic dilation, and risk of dissection are features associated with BAV, these findings are also seen in inheritable syndromes such as Turner syndrome, connective tissue disorders, and familial thoracic aortic aneurysm and dissection (FTAAD) The genetics of the former disorders are complex and familial screening, which will not be covered here in detail, often involves genetic counseling and evaluation with a comprehensive, multisystem approach beyond isolated cardiovascular screening FTAAD, however, does not involve other organ systems outside the cardiovascular system Approximately 20% of patients with an aortic aneurysm or dissection have a family history suggesting a genetic aortopathy.130,131 Several genes have been identified as involved in FTAAD; however, not all mutations have been identified Current guidelines recommend aortic imaging, typically beginning with echocardiography, in first-degree relatives of patients with FTAAD If a genetic mutation has been identified, genetic counseling and screening of firstdegree relatives for the identified mutation should be considered with focused imaging of those patients who carry the mutation In cases in which thoracic aortic aneurysms are discovered in one or more first-degree relatives, expanded screening to second-degree relatives and referral to genetics should be considered.126 Due to the complex nature of inherited aortopathies as well as evolving knowledge and testing of genetic mutations, it has been our institutional approach to evaluate these patients in a interdisciplinary fashion including cardiologists and geneticists, with subsequent subspecialty referrals as necessary Recommended Screening for Aortopathies Patient (adult or pediatric) with BAV ... genetic syndromes, such as Turner and Williams syndrome The morphologically abnormal aortic valve may have normal function in the pediatric patient, but may also be stenotic and/or insufficient Although progressive valve dysfunction is... current guidelines recommend echocardiographic screening in adults for all firstdegree relatives with BAV.126 In the pediatric population, BAV is often discovered due to a murmur that may be related to aortic valve dysfunction... such, screening of first-degree relatives is often recommended at the time of diagnosis of the pediatric patient with BAV Cost-benefit analysis has suggested that while cost of screening of siblings is moderate, the benefits of early