Clinical features and analysis of the misdiagnosis of anomalous origin of the left coronary artery from the pulmonary artery in children

Abstract

Background

Anomalous left coronary artery from the pulmonary artery(ALCAPA) is a rare congenital cardiovascular malformation. The main manifestations are non-specific and prone to misdiagnose. Without active treatment, the prognosis is poor. The study summarized the clinical characteristics of ALCAPA in children, analyzed the causes of misdiagnosis, and aimed to improve the rate of accurate initial diagnosis.

Methods

We retrospectively analyzed 19 children diagnosed with ALCAPA at the Children’s Hospital of Chongqing Medical University between December 2012 and July 2022. Diagnosed was established by color Doppler echocardiography, digital subtraction angiography(DSA), or confirmed intraoperatively. Patients were categorized into infant(≤ 1 year) and child(> 1 year) groups. Clinical characteristics, and causes of misdiagnosis were summarized and analyzed.

Results

Fourteen of the 19 patients(73.68%) were misdiagnosed at their initial echocardiographic examination. The correct diagnosis was subsequently confirmed through repeat echocardiography or DSA. Clinical features differed between infant and child groups.

Conclusion

Electrocardiogram can provide valuable diagnostic clues for ALCAPA. Echocardiography remains a primary diagnostic tool, but it is also the most frequent source of misdiagnosis. Comprehensively evaluation combining clinical manifestations with multiple auxiliary examinations is essential to reduce misdiagnosis errors and improve the accuracy of first-time diagnosis.

Background

Anomalous left coronary artery from the pulmonary artery (ALCAPA), also known as Bland–White–Garland syndrome, is a rare congenital cardiovascular malformation with an estimated prevalence of approximately 1/300,000 living births, accounting for 0.25%-0.5% of all congenital heart defects [1]. The condition is characterized by cardiac enlargement, mitral regurgitation, endocardial ischemic fibrosis, and abnormal coronary hemodynamics. Its clinical presentation is non-specific, leading to frequent misdiagnosis as dilatational cardiomyopathy(DCM), endocardial fibroelastic hyperplasia(EFE), congenital coronary-to-pulmonary fistula (CPF), or mitral valve lesions [2, 3]. If left untreated, ALCAPA can result in myocardial ischemia, secondary infarction, and with mortality rates exceeding 90% in infants under one year of age [4–7]. Surgical repair is the only definitive treatment, and with advances in operative techniques, survival rates have improved substantially [8–12]. Consequently, early and accurate diagnosis is critical for timely intervention and improved prognosis. In this study, we retrospectively analyzed 19 pediatric cases of ALCAPA to summarize their clinical characteristics and identify the main causes of misdiagnosis. Our aim is to improve the accuracy of first-time diagnosis, reduce diagnostic errors, and ultimately enhance prognosis.

Materials and methods

Study population

Children with ALCAPA diagnosed at the Children’s Hospital of Chongqing Medical University from December 2012 to July 2022 were included in this study. Patients were categorized into two groups: infants(≤ 1 year) and children(> 1 year). Clinical presentation, auxiliary examination findings, treatment methods, and follow-up outcomes were collected, and a misdiagnosis analysis was performed. The study protocol was reviewed and approved by the hospital’s ethics committee.

Inclusion criteria

1. Age range: Children from birth to adolescence(0–18 years).

2. Confirmed diagnosis: ALCAPA confirmed by color Doppler echocardiography, DSA, or surgical exploration.

3. Source of cases: All patients were admitted to the hospital.

Exclusion criteria

1. Incomplete clinical data: Cases lacking key clinical information.

2. Severe concomitant cardiac malformations: Cases with other major congenital heart defects (e.g., tetralogy of Fallot, transposition of the great arteries) that could confound clinical presentation and diagnosis.

3. Non-initial diagnosis: Cases in which ALCAPA had been diagnosed previously, and the current admission was for follow-up treatment rather than the initial diagnosis.

Research methodology

Clinical data collection and analysis

We reviewed the initial consultation data, hospitalization records, and follow-up information contained in the case files. The collected data was organized to summarize and compare demographic characteristics, as well as the similarities and differences in the clinical manifestations and auxiliary examination findings between the two groups. Treatment methods and follow-up outcomes were documented, with particular emphasis on short-term and medium-term prognosis.

Misdiagnosis analysis

We compared the out-of-hospital visit records of misdiagnosed children, the initial consultation notes at our hospital, the diagnostic process, and the basis for diagnosis, and analyzed the factors contributing to misdiagnosis. With a specific focus on comparisons of clinical symptoms, auxiliary examination findings, diagnostic methods, and physician’s professional experience and technical expertise. We explored and summarized the causes of the misdiagnosis and the diseases prone to misdiagnosis. A diagnostic decision-making flowchart was recommended.

Statistical methods

Data analysis was performed using SPSS 26.0 statistical software. Normally distributed data are expressed as means ± standard deviations, and comparisons between two groups were analyzed using independent sample t test. Count data were expressed as cases (%), with group comparisons conducted via the χ² test. A P value < 0.05 was considered statistically significant.

Results

Demographic characteristics and clinical presentation

A total of 19 children with ALCAPA were included, comparing 11 males and 8 females. The infant group (≤ 1 year old, n = 10) had a mean age of 5.40 ± 3.77 months, while the child group (> 1 year old, n = 9) had a mean age of 71.56 ± 34.51 months, Birth weights ranged from 2.5 to 4.1 kg(mean ± SD,3.24 ± 0.37 kg).

The main symptoms and signs of all the patients are summarized in Table 1. In the infant group, 9 patients (90.00%) initially presented with pneumonia, and 8 patients (80.00%) had symptoms of heart failure. In the pediatric group, 6 patients presented with heart murmurs, 1 patient had echocardiographic findings suggestive of congenital heart disease during early childhood, and 1 patient had a history of perioral and lip cyanosis in infancy.

Table 1.

Clinical manifestations and EEG of children with ALCAPA

No.	Age	clinical manifestation		EEG
		Main symptoms	Murmur	Pathologic Q waves	ST-T segment changes	Electric shaft left deviation
1	5d1m	cough, wheeze, difficulty feeding	N	/
2	2d2m	cough, wheeze, cyanosis, oliguria	Y	I, aVL	I, aVL, V4-V6	+
3	13d2m	cough, cyanosis, irrtability, difficulty feeding	N	aVF, V4-V6	aVF, V4-V6	-
4	14d3m	tachycardia, difficulty feeding, atrophy	N	I, aVL, V4-V6	I, aVL, V3,V4-V6	-
5	22d3m	cough, difficulty feeding	N	I, aVL, V4-V6	I, aVL, V5,V6	+
6	11d4m	dyspnea, difficulty feeding, cyanosis	N	I, aVL, V4,V5	I, V4-V6	+
7	12d6m	cough, wheeze, difficulty feeding	N	I, aVL, V5,V6	I, V4-V6	+
8	29d6m	cough, wheeze, cyanosis, oliguria, irritability	N	aVL, V4,V5	I, aVL, V4-V6	+
9	11d11m	cough, wheeze, dyspnea, irritability	Y	aVL, V5,V6	aVL, V5,V6	-
10	1y	cough, dyspnea, cyanosis	N	I, aVL	aVL, V4-V6	-
11	5m1y	cough, dyspnea, difficulty feeding, oliguria	Y	-	V4,V5	+
12	3m3y	heart murmur	Y	aVL	I	+
13	9m3y	ultrasound detected CAA	N	-	-	-
14	7m4y	ultrasound detected CAA	N	-	I, aVL, V4-V6	-
15	4m6y	heart murmur	Y	aVL	aVL, V4,V5	+
16	1m7y	heart murmur	Y	-	I, aVL, V4-V6	+
17	5m8y	heart murmur	Y	-	I, aVL, V4-V6	-
18	3m9y	cyanosis, difficulty feeding	N	aVL, V4	I, aVL, V4-V6	-
19	7m9y	heart murmur	Y	aVL, V2	I	-

Characteristics of auxiliary examinations and comparisons between the two groups of children

Electrocardiogram

Table 1 present the occurrence of pathological Q waves, ST-T segment changes, and left axis deviation on electrocardiograms among children in the two groups and across different leads. ST-T segment changes were the most common finding (17/18, 94.44%), followed by pathological Q waves (13/18, 72.22%), while left axis deviation was the least frequent (9/18, 50%).

The incidences of ST-T segment changes and left axis deviation showed minimal differences between the two groups. However, the incidence of pathological Q waves in all leads was significantly higher in the infant group than in the child group (P < 0.05) (Table 2; Fig. 1).

Table 2.

Comparison of electrocardiograms between the infant and child groups

Groups	Pathologic Q waves			ST-T segment changes			Electric shaft left deviation
	I-lead	aVL lead	Leads V4-V6	I-lead	aVL lead	Leads V4-V6
Infant (n = 9)	6	8	7	6	6	9	5
Children (n = 9)	0	4	1	6	5	6	4
t/χ2 value	9	4	8.1	0	0.234	3.6	0.222
P value	0.003	0.046	0.004	1	0.629	0.058	0.637

Fig. 1.

Typical ECG of a child with ALCAPA. Note: Pathologic Q waves and ST-T segment changes (shown by arrows) were observed in leads I, aVL, and V4--V6

Color Doppler echocardiography

The direct echocardiographic signs (Fig. 2a) demonstrated a high overall detection rate (16/19, 84.21%). Among the indirect signs, coronary artery dilation (Fig. 2b) was the frequent finding (17/19, 89.47%). Significant left ventricular enlargement and moderate-to-severe mitral regurgitation were equally common (12/19, 63.16%). Followed by increased echogenicity of mitral valve chordae tendineae and papillary muscles (10/19, 52.63%). Local endocardial ischemic fibrosis with abundant collateral circulation (Fig. 2c) occurred in 9/19 cases(47.37%), while retrograde blood flow signals in the left coronary artery (Fig. 2d) was the least frequent (6/19, 31.58%). Comparative analysis between the two groups revealed that the detection rates of direct signs, significant left heart enlargement, and unilateral coronary artery dilation were significantly higher in the infant group. In contrast, increased echogenicity of mitral valve chordae tendineae and papillary muscles, bilateral coronary artery dilation, and retrograde coronary artery blood flow were more common in the child group (Tables 3 and 4; Fig. 2).

Fig. 2.

Color Doppler echocardiography in children with ALCAPA. Note: A) Anomalous origin of the left coronary artery from the pulmonary artery; B) dilatation of the right coronary artery; C) establishment of collateral vessels in the right and left coronary arteries; D) reversed blood flow in the left coronary artery

Table 3.

Color Doppler echocardiographic performance in children with ALCAPA

No.	Age	Direct sign	Indirect sign
		Origin	LHE	MR	EEN of CT and PM	LIF	CC	CRF	CAD
1	5d1m	left sinus	+	moderate	N	N	/	/	N
2	2d2m	posterior sinus	+ +	mild	N	Y	/	/	bilateral
3	13d2m	trunk	+ +	moderate	N	Y	lesser	/	unilateral
4	14d3m	trunk	+ +	Mild-moderate	Y	Y	/	/	N
5	22d3m	lateral wall	+ +	Mild-moderate	N	N	lesser	/	unilateral
6	11d4m	left posterior sinus	+ +	moderate	N	N	/	/	unilateral
7	12d6m	left posterior sinus	+ +	moderate	Y	Y	enrichment	Y	unilateral
8	29d6m	trunk	+ +	moderate	Y	Y	enrichment	/	unilateral
9	11d11m	lateral wall	+ +	severe	N	N	enrichment	/	unilateral
10	1y	trunk	+ +	moderate	N	N	/	/	unilateral
11	5m1y	not clear	+ +	severe	Y	N	enrichment	Y	unilateral
12	3m3y	left lateral	+	severe	N	Y	/	/	bilateral
13	9m3y	posterior sinus	+	Mild-moderate	Y	Y	enrichment	/	bilateral
14	7m4y	left sinus	+	mild	N	N	enrichment	Y	bilateral
15	4m6y	not clear	+	moderate	Y	N	enrichment	Y	bilateral
16	1m7y	not clear	+ +	moderate	Y	N	enrichment	Y	bilateral
17	5m8y	left lateral	+ +	severe	Y	N	/	Y	unilateral
18	3m9y	posterior sinus	+	Mild-moderate	Y	Y	enrichment	/	bilateral
19	7m9y	trunk	+	Mild-moderate	Y	Y	lesser	/	bilateral

Note: CAD coronary dilatation, CC coronary collateral circulation, CRF coronary reverse flow, CT mitral valve chordae tendineae, EEN echo enhancement, LIF localized ischemia fibrosis, LVE left ventricular enlargement, MR mitral regurgitation, PM papillary muscle

Table 4.

Comparison of echocardiograms in the infant and child groups

Groups	Direct sign	indirect sign
		LHE	MR		EEN of CT and PM	LIF	CAD		CC	CRF
			Moderate	severe			Unilateral	Bilateral
Infant (n = 10)	10	9	6	1	3	5	7	1	3	1
Children (n = 9)	6	3	2	3	7	4	2	7	6	5
t/χ2 value	3.958	6.537	2.773	1.552	4.337	0.059	4.337	9	2.554	4.55
P value	0.047	0.011	0.096	0.213	0.037	0.809	0.037	0.003	0.110	0.033

In addition, the echocardiography may be misdiagnosed: the left image, the left coronary artery appears to originate normally from the aorta. However the right color Doppler image demonstrates retrograde flow within the left coronary artery, a finding suggestive of ALCAPA (Fig. 3).

Fig. 3.

False-negative results in children with ALCAPA. Note: The left image shows a left coronary artery that appears to open into the aorta, but the right image shows the presence of reverse blood flow within this left coronary artery

Coronary CT angiography (CCTA)

CCTA was performed in 14 patients. Among them 7 cases were diagnosed with ALCAPA, yielding a positive detection rate of 50%. In 4 patients, the findings suggested that the left coronary artery might have originated from the pulmonary artery, in 1 patient, the the ostium of the left coronary artery was unclear, in another, proximal stenosis of the left coronary artery was suspected, and 1 patient was misdiagnosed with CPF (misdiagnosis rate, 7.14%). Indirect signs mainly included left heart enlargement, with 7 cases showing dilatation of the right coronary artery or even bilateral coronary arteries, while other indirect signs were less indicative.

Digital subtraction angiography (DSA)

DSA was performed in 6 patients, with a 100% positive detection rate. Among them, 4 patients were suspected of having ALCAPA by echocardiography and subsequently confirmed by DSA, while the remaining 2 patients had been confirmed as ALCAPA by echocardiography and underwent DSA for further confirmation.

Treatment and follow-up

A total of 11 out of 19 children with ALCAPA underwent surgical treatment, while 8 declined surgery and discontinued treatment, Among the 11 who received surgery,9 underwent ALCAPA corrective surgery at our hospital, all of whom underwent coronary artery graft reconstruction. The remaining 2 underwent surgical treatment at other hospitals (the surgical methods unknown) and subsequently returned to our outpatient clinic for regular follow-up. All surgeries proceeded smoothly, with a 100% surgical success rate. Only 1 patient (9.09%) required mitral valvuloplasty due to severe mitral regurgitation postoperatively. The remaining children recovered well in the short term and were discharged without complications.

During postoperative follow-up(1-4.7 years), echocardiographic examinations revealed no stenosis or obstruction of the left coronary-aortic anastomosis, Lesions such as left heart enlargement and coronary dilatation gradually resolved. The short- and medium-term prognosis were favorable, with a postoperative survival rate of 100%.

Analysis of misdiagnosed diseases and causes

Of the 19 children, 5 cases(26.32%) were definitively diagnosed at the first visit, while 14 cases(73.68%) were initially misdiagnosed (8 in the infant group and 6 in the child group). Of the misdiagnosed cases, 2 patients(14.29%) were misdiagnosed both out-of-hospital and in-hospital, 8(57.14%) were misdiagnosed in-hospital, and 4(28.57%) were misdiagnosed out-of-hospital.

Diseases prone to misdiagnosis and their reasons:

Dilated cardiomyopathy(DMC): Misdiagnosed in 2 cases (14.29%), all infants, who primarily presented with dyspnea, cyanosis and tachycardia. Electrocardiograms showed evidence of left ventricular myocardial ischemia and hypertrophy. Initial echocardiography showed left heart is enlargement(notably the left ventricle), mitral regurgitation, and impaired left ventricular systolic and diastolic function. The non-specific onset symptoms and prominent left heart enlargement triggered misdiagnosis. Repeated echocardiographic examinations and DSA helped to clarify the misdiagnosis.

Endocardial fibroelastosis(EFE): Misdiagnosed in 4 cases (28.57%), including 3 infants and 1 child, Infants were initially diagnosed with pneumonia, accompanied by cyanosis, irritability, excessive sweating, and signs of heart failure.Electrocardiograms showed ST-T segment changes. Initial echocardiography revealed marked left ventricular enlarged, accompanied by endocardial thickening, and decreased left heart function. These clinical manifestations led to misdiagnosis as EFE. In the child group, a history of cyanosis during infancy and the electrocardiographic of incomplete conduction block were noted, and echocardiography showed left ventricular enlargement. Misdiagnosed during infancy, with symptomatic treatment resulting in poor long-term outcomes, and finally confirmed by repeated echocardiography and further validated by DSA. Heart failure symptoms in infancy were the main cause of misdiagnosis, leading clinicians to favor EFE and overlooking the possibility of ALCAPA. Clinicians’ insufficient evidence for differential diagnosis was the fundamental cause of misdiagnosis.

Coronary artery fistula(CPF): Misdiagnosed in 4 cases (28.57%), with 2 infants and 2 children. Infants were initially diagnosed with pneumonia, the electrocardiograms indicated arrhythmias and biventricular hypertrophy, and echocardiography showed marked left ventricular enlargement, with mild–to-moderate pulmonary arterial hypertension. These findings, combined with pulmonary hypertension, led to misdiagnosis, which corrected following repeated echocardiography. Children were identified during physical examination due to heart murmurs. Electrocardiograms showed left heart enlargement, echocardiography revealed left ventricle and right atrium enlargement, bilateral coronary artery aneurysmal dilatation, abundant collateral, and possible coronary artery–pulmonary artery leakage. Misdiagnosis occurred due to sonographer’s limited understanding and insufficient technical experience, confirmation was ultimately obtained via DSA.

Mitral valve lesions: Misdiagnosed in 2 cases (14.29%), both in child group. One case was associated with pneumonia and heart murmur, and the other was detected physical examination due to heart murmur. Electrocardiogram showed left ventricular hypertrophy, and echocardiography revealed left heart enlargement, mitral valve deformity, prolapse, and severe regurgitation, along with right coronary artery dilatation. Initially misdiagnosed due to prominent mitral valve pathology, with final confirmation vis DSA.

Congenital heart disease: Misdiagnosed 2 cases(1 in each group). The infant presented with pneumonia and electrocardiogram revealed ST-T segment changes and pathologic Q waves in the left heart leads. Echocardiography showed a marked left heart enlargement, endocardial thickening, severe mitral regurgitation, and reduced left ventricular systolic function, misdiagnosed in the initial consultation was attributed clinicians’ inexperience, with confirmation via repeated echocardiography. The child was misdiagnosed due to sonographers’ limited experience and familiarity with ALCAPA, long-term outpatient follow-up revealed left heart enlargement, bilateral coronary artery aneurysmal dilatation, and the abundant collateral formation, with final confirmed via repeated echocardiography (Table 5).

Table 5.

Misdiagnosis of 14 children with ALCAPA

No.	Age	Type of misdiagnosis	Misdiagnosed diseases
			Endocardial elastic fiber hyperplasia	dilated cardiomyopathy	mitral valve lesion	CPF	CHD
1	2d2m	out-of-hospital	√
2	13d2m	out-of-hospital	√
3	14d3m	both		√
4	22d3m	in-hospital				√
5	11d4m	out-of-hospital		√
6	12d6m	out-of-hospital	√
7	11d11m	in-hospital					√
8	1y	in-hospital				√
9	5m1y	in-hospital			√
10	7m4y	in-hospital					√
11	4m6y	in-hospital				√
12	1m7y	in-hospital				√
13	5m8y	both			√
14	3m9y	in-hospital	√

Based on the analysis of misdiagnosed cases in present study, we recommend that the flowchart be used in the diagnosis of ALCAPA to improve diagnostic efficiency and accuracy of the initial diagnosis.

Discussion

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital cardiovascular malformation with a prevalence of approximately 1/300,000. It can cause cardiac enlargement, mitral regurgitation, endocardial ischemic fibrosis, and coronary hemodynamic abnormalities, manifesting as myocardial ischemia, secondary infarction, left ventricular dysfunction, arrhythmia, heart failure, and even death in infancy or sudden cardiac death in childhood and adulthood.

ALCAPA lacks specific clinical manifestations [13, 14] making misdiagnosed common during the diagnostic process. Imaging findings, particularly echocardiography, are easily confused with dilated cardiomyopathy, endocardial fibroelastosis, CPF, and mitral valvular disease, among others [15]. Insufficient knowledge of the disease among pediatricians and sonographers, coupled with limited diagnostic and therapeutic experience and technical proficiency, further contributes to misdiagnosis. Previous studies have reported that 8 of the 12 children with ALCAPA were misdiagnosed at initial presentation, with a misdiagnosis rate of 66.67%, indicating a high misdiagnosis rate for this condition [2, 3]. In the present study, 14 of 19 children were misdiagnosed at initial presentation, with a misdiagnosis rate of 73.68%, leading to delayed treatment and impaired long-term prognosis.

Therefore, enhancing pediatricians’ and sonographers’ understanding of this disease in crucial to reduce misdiagnosis and improve initial diagnostic accuracy, which is essential for early and aggressive intervention to lower mortality.

The infantile type of ALCAPA is often characterized by cyanosis, irritability, excessive sweating, oliguria, dyspnea, difficulty feeding, and a predisposition to respiratory infections. In contrast, the child type is mostly detected incidentally during physical examinations, as collateral circulation between the right and left coronary arteries is better developed. In the present study, 9 cases (90.00%) of the infant group presented with pneumonia as the initial manifestation, 8 cases (80.00%) exhibited heart failure. In the child group, 6 cases (66.67%) were identified due to heart murmur detected during physical examinations. This findings are consistent with the reported initial symptoms and clinical features of the infantile and child-types ALCAPA [4]. Literature has reported that all 14 infants in their study cohort presented with cardiac murmurs, while pediatric patients were misdiagnosed as myocarditis due to presenting with fever, hypoxemia, and acute heart failure [16, 17]. However, in our infant group, only 2 cases presented with cardiac murmurs, and no cases were misdiagnosed as myocarditis. Children with respiratory tract infections accompanied by cardiac insufficiency or myocardial ischemia, or those with heart murmurs detected on physical examination, should raise suspicion for underlying cardiovascular diseases. Electrocardiogram and echocardiography should be performed to further diagnose or exclusion of congenital coronary artery anomalies.

After 6~8 weeks of birth, pulmonary artery resistance gradually decreases in children with ALCAPA, pulmonary artery pressure is insufficient to perfuse the myocardium, and left coronary artery blood flow perfusion is subsequently reduced. A lack of adequate collateral circulation can lead to myocardial ischemia or even infarction in the left coronary artery supply area, and an electrocardiogram reveals characteristic manifestations of anterolateral wall myocardial infarction-specifically, pathologic Q waves in leads I, aVL, and V4--V6, and ST-T segment changes. This study revealed that the diagnostic significance of infantile pathological Q waves is greater [18] (P < 0.05) (Table 2). With prolonged chronic myocardial ischemia, left cardiac compensation increases, and electrocardiogram show left axis deviation. The literature notes that child group is prone to misdiagnosis and missed diagnosis due to a lack of specific ST-segment changes [19]. However, we propose that ST-T segment changes and the left axis deviation lack specificity when compared with the electrocardiographic features of easily misdiagnosed conditions(e.g.,dilated cardiomyopathy and endomyocardial fibroelastosis) and must therefore be interpreted in conjunction with the positive rate of pathological Q waves. Pathologic Q waves in ALCAPA electrocardiograms are predominantly observed in the left heart leads and are more localized.

Echocardiography is safe and efficient and can reveal the origin and course of coronary arteries, cardiac size, intracardiac structures, hemodynamic changes. It provides valuable supplementary information to clinical manifestations and electrocardiographic findings [20–23], making it the preferred modality for diagnosing ALCAPA. Echocardiographic findings can be categorized into direct and indirect signs. In the present study, direct signs were easier to detect in the infantile type, with prominent indirect signs including significant left heart enlargement and unilateral coronary artery dilatation. In the child type, indirect signs such as mitral valve lesions, bilateral coronary artery dilatation, and retrograde coronary flow were more common(P < 0.05) (Table 4). Compared with previous reports, no coronary artery collaterals were found in infantile ALCAPA, while the positive detection rate of indirect signs on our echocardiography was higher [24]. Myocardial injury signs are more easily recognized on examination than vascular abnormalities. Misdiagnosis is easy when excessive attention is given to the secondary manifestations of myocardial ischemic injury, ignoring vascular anatomy and the direction of blood flow. Myocardial signs such as left heart enlargement, mitral valve hypoplasia, endocardial thickening and fibrosis are similar to the manifestations of dilated cardiomyopathy, leading to misdiagnosis in 2 patients (14.29%) in this study. Endocardial ischemia, compensatory thickening, and echo enhancement can be easily confused with endocardial fibroelastosis, accounting for 4 misdiagnosed cases (28.57%), and mitral tendon cords and papillary muscles with ischemic and hypoxic conditions can be easily misdiagnosed as mitral valvular lesions, resulting in misdiagnosis in 2 patients (14.29%). Key vascular signs to evaluate include: left coronary artery opening and alignment, retrograde blood flow signal in the left coronary artery and its branches, collateral circulation between the left and right coronary arteries, coronary artery dilation. These require differentiation from CPF, which was responsible for 4 misdiagnosed cases (28.57%). In CPF, left coronary artery flow direction is normal, whereas ALCAPA is associated with a coronary artery steal phenomenon [25]. This study also found that false negative results may occur when echocardiography fails to show coronary flow direction(Fig. 3), leading to misdiagnosis of the left coronary as normally originating from the aorta. Therefore, increased awareness and attention to vascular signs on echocardiography can improve initial diagnostic and reduce misdiagnosis.Studies have shown that a left coronary artery originating from the right posterior sinus of the pulmonary artery is more likely to be misdiagnosed as originating from the left coronary sinus [15]. However, this pattern was not observed in our cohort, instead, the anomalous origins in our cases included the main pulmonary artery, lateral wall, and left sinus, among others.

CCTA is easy to perform, minimally invasive, and can clearly show the coronary artery opening, diameter, and travel characteristics [26–28], the results can also be divided into direct signs and indirect signs. In this study, 7 of the 14 children had direct signs, yielding a positive detection rate of 50%. One case (7.14%) was misdiagnosed as CPF, and the remaining 6 cases showed that the left coronary artery might have originated from the pulmonary artery, unclear ostium, or suspected proximal stenosis, among other features. This is closely associated with CCTA’s inability to visualize intravascular blood flow direction and radiologists’ limited experience.

DSA is the gold standard for diagnosing ALCAPA. While it enables rapid and accurate diagnosis, it is invasive, radioactive, and is costly. Therefore, children with cardiac insufficiency or other severe comorbidities should be comprehensively evaluated to minimize procedural risk and treatment cost.

Conclusion

Children with ALCAPA lack specific clinical signs or symptoms, with electrocardiogram and echocardiography serving as the primary diagnostic modalities. Electrocardiogram plays a valuable role in ALCAPA diagnosis, while echocardiography is both an effective diagnostic tool for ALCAPA and a common source of misdiagnosis. In clinical practice, clinicians should perform a comprehensive analysis integrating clinical manifestations with electrocardiogram and echocardiography. When ALCAPA is highly suspected, sonographers must pay attention to the origin of the coronary arteries, alignment and direction of blood flow, collateral circulation, coronary artery dilatation, and other vascular signs in the course of the examination. Both pediatricians and sonographers need to increase awareness and communication about ALCAPA to reduce misdiagnosis, improve initial diagnostic accuracy, and provide early and timely treatment, which is crucial for reducing mortality.

Abbreviations

ALCAPA

Anomalous left coronary artery from the pulmonary artery

CAD

Coronary dilatation

CC

Coronary collateral circulation

CAA

Coronary artery abnormalities

CCTA

Coronary CT angiography

CHD

Congenital heart disease

CPF

Congenital coronary-to-pulmonary fistula

CQMU

Children’s Hospital of Chongqing Medical University

CRF

Coronary reverse flow

CT

Mitral valve chordae tendineae

DCM

Dilatational cardiomyopathy

DSA

Digital subtraction angiography

EEN

Echo enhancement

EFE

Endocardial fibroelastic hyperplasia

LIF

Localized ischemia fibrosis

LVE

Left ventricular enlargement

MR

Mitral regurgitation

PM

Papillary muscle

Author contributions

Conceptualization/design: SC, ZC, PX. Methodology: SC, ZZ, ZC, ML. Investigation: NW, SC, XZ, MZ. Supervision/oversight: ZC, PX, ML, KZ. Writing—drafting the initial manuscript: SC. Writing—review or editing of manuscript: SC, NW, ZC. Give final approval of the version to be published: All authors. Agree to be accountable for all aspects of the work: All authors.

Funding

Preclinical study of a new biodegradable PLGA occluder for the treatment of congenital heart disease in children. Key project of the Chongqing Municipal Health Planning Commission Medical Research Project. Project number: 2016ZDxm018.

Data availability

All the data generated or analyzed during this study are included in this published article.

Declarations

Ethics approval and consent to participate

This study was reviewed and approved by the Ethics Committee of the Children’s Hospital of Chongqing Medical University (approval number 2021100-1).

Consent for publication

The patients’ parents provided informed written consent for their personal or clinical details along with any identifying images to be published in this study.

Competing interests

The authors declare that they have no competing interests.