Emily Reinhardt: “Evaluating cardiovascular health among CCDS patients enrolled in the CreatineInfo Patient Registry”
SHORT SUMMARY
This poster summarizes findings from the CreatineInfo Natural History Study and Patient Registry’s cardiovascular survey.
ABSTRACT
Prior research has demonstrated that patients with creatine transporter deficiency (CTD) are at greater risk for developing a cardiovascular condition called prolonged QTc, which is an irregular heart rhythm. Although prior research has been conducted to understand the relationship between CTD and cardiovascular health, little research has been conducted to determine whether or not there is a relationship between arginine:glycine amidinotransferase (AGAT) or guanidinoacetate methyltransferase (GAMT) deficiencies and cardiovascular health. Therefore, the goal of this project was to better understand the relationship between all three cerebral creatine deficiency syndromes (CCDS) and cardiovascular health using patient- and caregiver-reported data. We developed a cardiovascular health survey which was launched via the CreatineInfo Patient Registry. Survey questions included topics such as the CCDS patient’s cardiovascular health history, cardiovascular testing, exercise habits, and family cardiovascular history. This survey was the first to capture cardiovascular health data within our CreatineInfo patient registry. Our preliminary findings show that CTD patients report experiencing cardiovascular conditions, unlike GAMT and AGAT deficiency patients. Additional research is needed to fully understand the long-term impacts on cardiovascular health among CCDS patients.