Single coronary artery presenting dilated cardiomyopathy and hyperlipidemia with the

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Single coronary artery (SCA) is a rare congenital anomaly.
• Dilated cardiomyopathy (DCM) can result from various genetic mutations.
• The SCN5A gene is implicated in cardiac channelopathies and cardiomyopathies.

Purpose of the Study:

• To report a rare case of SCA with DCM.
• To investigate the genetic basis of DCM in a patient with SCA.
• To highlight the association between SCN5A mutations and DCM in SCA.

Main Methods:

• Computed tomography coronary angiogram (CTCA) for coronary anatomy assessment.
• Transthoracic echocardiography (TTE) for cardiac structure and function evaluation.
• Cardiac magnetic resonance imaging (CMR) for DCM diagnosis.
• Genetic testing for SCN5A and APOA5 gene variants.

Main Results:

• Diagnosis of SCA with congenital absence of the right coronary artery.
• Evidence of DCM with left heart enlargement.
• Identification of c.1858C>T (p.Arg620Cys) variant in SCN5A, associated with Brugada syndrome and DCM.
• Identification of c.990_993delAACA (p.Asp332Valfs*5) variant in APOA5.

Conclusions:

• This is the first reported case of DCM combined with an SCN5A gene mutation in a patient with SCA.
• The findings suggest a potential genetic link between SCN5A mutations and DCM in the context of SCA.
• This case underscores the importance of genetic testing in rare cardiovascular conditions.