Open Med (Wars). 2026 Jan 19;21(1):20251287. doi: 10.1515/med-2025-1287. eCollection 2026 Jan.
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.
PMID:41726140 | PMC:PMC12917601 | DOI:10.1515/med-2025-1287