Hypertrophic cardiomyopathy coexisting with anomalous origin of the right coronary artery presents with varying clinical manifestations, potentially due to different underlying gene mutations.
Case Report (n=2)
The coexistence of hypertrophic cardiomyopathy and anomalous origin of the right coronary artery in children can present with varying clinical phenotypes, potentially driven by the underlying genetic mutation (e.g., TTN vs. MYBPC3).
Abstract Objectives Coronary artery anomalies are rare both in coronary angiogram and computed tomography angiography. Hypertrophic cardiomyopathy (HCM) is the most frequent inherited cardiac disease. The phenotype of HCM associated with anomalous coronary origin is not commonly seen especially in children. Case presentation We describe a case series of two children with HCM combined right coronary artery (RCA) originated from left coronary sinus. Case 1 was a 9-month-old female with TTN gene heterozygous mutation ( p.R16724L ) who exhibited cardiac insufficiency. Case 2 was a 12-year-old male with MYBPC3 gene heterozygous mutation ( p.R820Q ) who only exhibited intermittent chest pain. A total of 7 HCM cases with RCA originated from left coronary sinus have been reported with our literature review. Case 1 is the youngest child patient in our report until now. Moreover, the echocardiogram of case 1 is similar with restrictive cardiomyopathy (RCM) and it demonstrates the progression of HCM to heart failure. So, HCM with TTN gene mutation may exhibit cardiac insufficiency more early. And the gene mutation site of TTN has never been reported in previous HCM cases. Conclusions HCM coexisted with anomalous origin of RCA has different clinical presentation, and it maybe due to different gene mutation.
Xu et al. (Thu,) conducted a case report in Hypertrophic cardiomyopathy with anomalous right coronary artery origin (n=2). Anomalous origin of right coronary artery from left coronary sinus with gene mutations was evaluated on Clinical presentation. Hypertrophic cardiomyopathy coexisting with anomalous origin of the right coronary artery presents with varying clinical manifestations, potentially due to different underlying gene mutations.