a Screen all first-degree relatives with echocardiography i At the time of diagnosis ii Periodic long-term screening to assess for progressive aortopathy Patient with “other” aortopathies (Turner syndrome, Williams syndrome, connective tissue disorders such as Marfan syndrome, Loeys-Dietz, FTAAD) a Screening of first-degree relatives i FTAAD—isolated cardiovascular screening because other organ systems are not involved: echocardiography plus additional aortic imaging If genetic mutation identified a Genetic counseling b Screen firstdegree relatives for the mutation If thoracic aneurysms discovered in one or more first-degree relatives a Screen seconddegree relatives b Referral to genetics team ii Other aortopathies (Turner syndrome, Williams syndrome, connective tissue disorders) Comprehensive, multisystem evaluation to include all organs systems possibly affected Cardiovascular screening which will include echocardiography and other aortic imaging Several different forms of inheritable cardiomyopathies exist and can clinically manifest in any age group These include HCM, DCM, ARVD, left ventricular noncompaction (LVNC) and restrictive cardiomyopathy (RCM) HCM and DCM can occur as a result of sarcomeric mutations or underlying metabolic disorders Relatively speaking, these two types of cardiomyopathy are more extensively studied with the most of number of genetic mutations identified However, not all mutations have been identified, making comprehensive screening needed, including detailed family histories, ECG, and echocardiographic testing Once a patient has been identified as having a cardiomyopathy, clinical screening of all first-degree relatives, regardless of the presence or absence of symptoms, is recommended.132 Clinical screening should involve a detailed history with focused questions to assess for signs of heart failure or arrhythmias, physical examination, ECG, and echocardiography Serologies at the initial evaluation with testing of creatine kinase MM (CK-MM) levels are also recommended In families of patients with HCM, evaluation with Holter monitoring and exercise treadmill testing should also be performed In families of ARVD, Holter monitoring should be performed as well as signal-averaged ECGs and consideration for cardiac magnetic resonance imaging (MRI) if indicated If a genetic mutation is not identified in the proband, then long-term evaluation screening at various intervals depending on the involved lesions is recommended In general, if no mutations are identified and initial screening is normal, repeat screening should be performed every 3 to 5 years depending on the underlying concern In patients who are phenotypically negative but genotype positive, screening for most cardiomyopathies should be performed yearly during pediatric/pubertal years Similarly, in patients who have an abnormal initial screening, more frequent follow-up is recommended The goal of all familial screenings is to identify at-risk family members with the hopes of reducing the morbidity and mortality associated with high-risk diseases While genetic mutations are increasingly identified for various diseases, many cardiovascular diseases with high morbidity and mortality rates have complex genetics that are not fully defined or understood As such, there remains a need for clinical familial screening Recommended Screening for Cardiomyopathy Patient with identified cardiomyopathy (HCM, DCM, RCM, ARVD) a Screen all first-degree relatives—History, physical examination, ECG, echocardiography; consider serologies to include CK-MM levels i HCM—include Holter ECG and stress testing ii ARVD—consider Holter ECG, signal-average ECG, and cardiac MRI iii If genetic mutation is not identified, and if the initial screen is normal—long-term evaluation screening at various intervals, generally every 3 to 5 years iv If genetic mutation is identified then first-degree relatives should undergo genetic testing a In screened patients who are genotype-positive but phenotypenegative, follow-up screening should occur annually during the pediatric/pubertal years ... In patients who are phenotypically negative but genotype positive, screening for most cardiomyopathies should be performed yearly during pediatric/ pubertal years Similarly, in patients who have an abnormal initial screening, more frequent follow-up is recommended... In screened patients who are genotype-positive but phenotypenegative, follow-up screening should occur annually during the pediatric/ pubertal years