Saving Lives One at a Time.

The risk of sudden unexpected death in otherwise healthy-appearing people has always presented a perplexing paradox for both patients and physicians. “I just talked to him 1 hour ago, and he seemed perfectly normal.” “How could this happen?” or “She always took great care of herself, exercised regularly and ate healthy. How could this happen?” All physicians in the general practicing community have heard this, and the answers seem to lie largely with the inherent unpredictability of cardiac diseases and our imperfect ability to anticipate and prevent such events.1 When such a death occurs in a child or young adult, it seems even more counterintuitive and tragic. I am a cardiologist who treats many patients with genetic heart disease, particularly hypertrophic cardiomyopathy (or HCM), which is the most frequent cause of sudden death in the young (as common as 1:200 in the general population).2 The prevention of such events has been both the focus of my work and the aspiration of many other cardiologists. From the early years of my career, I can still recall the all too common dreaded telephone calls from relatives reporting sudden deaths due to this disease in family members who had been our patients. Understandably, these experiences always created a high level of frustration and feelings of helplessness. As highly trained and experienced specialists in cardiovascular medicine, why was there not something we could (or should) have done to prevent such catastrophes? However, in the genetic disease that is HCM, the reality is that drugs do not reliably deter sudden death, and until 15 years ago there were no available practical strategies to prevent these events and their profound impact on families.