Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

T uberous sclerosis complex (TSC) is a genetic syndrome with a highly variable phenotype that may affect several organ systems. The central nervous system findings were the first to be described, and the classic triad of cognitive impairment, facial angiofibromas, and seizures was delineated shortly thereafter. As the variability and extent of organ involvement were appreciated, diagnostic criteria evolved to include major and minor criteria that taken together would lead to a definite, probable, or possible clinical diagnosis. Since the most recent refinement of the diagnostic criteria, dramatic advances have been made in understanding the genetic basis and pathogenesis of TSC, and new treatment strategies have been established, significantly affecting all aspects of coordinated care for TSC patients. The Tuberous Sclerosis Alliance (www.tsalliance.org) convened a Consensus Conference composed of 8 working groups that generated Revised Diagnostic Criteria and new Surveillance and Management Guidelines with the intention of creating “living documents” to accommodate rapid advances and the need for coordination of care. The conference was informed in part by a recent constituency survey of key opinion leaders, which summarized interim progress, areas in need of further research, unmet medical needs, and barriers to progress. The goals of this report are to highlight the new diagnostic criteria and management guidelines as they pertain to cardiology and to expand consideration of the issues relevant to optimal cardiac care of patients with TSC. TSC is characterized by widespread hamartomas, or abnormal growth of normal tissues. Cardiac rhabdomyomas are hamartomatous growths or benign tumors composed of cardiac myocytes, and they represent the classic neonatal manifestation of cardiac disease in TSC. Additional cardiac diseases such as arrhythmia occur later in life, underscoring the importance of ongoing cardiology care. Here, we review what is known about the natural history of cardiac manifestations in TSC with an emphasis on diagnostic testing, surveillance, and treatment.