Beyond the usual suspects: unmasking ALCAPA in pediatric cardiomyopathy - case report

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare but potentially lethal congenital heart disease. Delayed recognition may result in irreversible myocardial injury. Although the classic presentation occurs in infancy, atypical forms may appear in older children, making this entity a diagnostic challenge.

We report the case of a 9-year-old boy with a history of dilated cardiomyopathy (DCM) and poorly controlled asthma who was admitted for an asthma exacerbation. Transthoracic echocardiography revealed Left ventricular ejection fraction (LVEF) reduced, left ventricular dysfunction, severe mitral regurgitation (MR), and pulmonary hypertension (PH). Notably, classic echocardiographic hallmarks of ALCAPA-such as coronary dilation, collateral circulation, and retrograde filling of the left coronary artery-were absent, rendering this case particularly unusual. Cardiac magnetic resonance imaging and cardiac catheterization ultimately confirmed the diagnosis. The patient underwent successful left coronary artery reimplantation and mitral valvuloplasty, with favorable postoperative evolution.

This case illustrates how ALCAPA can mimic idiopathic dilated cardiomyopathy and asthma-related cardiopulmonary disease, underscoring the importance of systematically evaluating coronary arteries to avoid delayed recognition. Indirect echocardiographic signs, including segmental wall motion abnormalities and mitral regurgitation, should prompt careful coronary evaluation. Echocardiography and coronary CT/CMR are considered as the primary diagnostic tools, however catheterization or coronary CT angiography may be used in atypical cases although is not routine.

ALCAPA should be considered in any child with unexplained ventricular dysfunction or severe mitral regurgitation. High clinical suspicion and targeted imaging are essential for timely diagnosis and optimal outcomes.