Abstract
Aneurysms of the coronary arteries and abdominal aorta are extremely rare in infancy. Due to the rarity of the anomaly, there are no existing guidelines on management of these aneurysms. We describe the challenges in diagnosis, evaluation and management of an infantile Marfan with this rare presentation.
INTRODUCTION
Coronary artery aneurysms in infancy are rare and are usually caused by vasculitis as opposed to atherosclerosis in adults. Abdominal aortic aneurysms are also rare in infancy and are often due to connective tissue disorders. We describe the evaluation and management of large coronary artery aneurysms and infrarenal abdominal aortic aneurysm in a 5-month-old patient.
CASE REPORT
A 5-month-old girl was referred for evaluation of mild cardiomegaly on chest X-ray. Her clinical examination was normal. Transthoracic echocardiogram showed dilated coronary arteries. Cardiac computed tomography and aortogram were done, which showed aneurysmal proximal coronaries (LMCA 8.6 mm +21.7z, LAD 5.4 mm + 13.9z, LCX 2.9 mm + 5.8z, RCA 4.5 mm + 10.9z) (Fig. 1). There was no thrombus within the coronary aneurysm. There was also a large saccular infrarenal abdominal aortic aneurysm (33 mm, +11.6z) (Fig. 2c). Genetic analysis of the patient showed pathogenic mutation (c.8521G>T) [p.Glu2841Ter] at exon 66 of FBN1 gene, suggestive of Marfan syndrome. The systemic Ghent score was 3 (only wrist and thumb sign were positive). The patient underwent aortic aneurysm repair with 7-mm tubular polyester graft placed in the infrarenal abdominal aorta upto the aortic bifurcation (Fig. 2b). She was started on aspirin and warfarin for thromboprophylaxis for coronary aneurysms and is doing well at 12 months’ follow-up. Repeat computed tomography aortogram 6 months after surgery showed no residual aortic aneurysm (Fig. 2d), with no significant increase in size or thrombosis of coronary artery aneurysms. In view of risk of radiation, no further computed tomography was done, and the patient is being followed up by serial ultrasonograms of the abdomen. Maternal screening echocardiogram showed dilated aortic root and ascending aorta, which is planned for close medical follow-up at present.
Cardiac CT in oblique axial (a) and oblique sagittal with shallow LAO (b) projections showing aneurysmal dilation of left main coronary artery (yellow arrow). Oblique axial (c) and curved planar projection (d) of CT coronary angiogram for right coronary artery with fusiform dilation of proximal right coronary artery (red curved arrow). Ao: ascending aorta; CT: computed tomography; LV: left ventricle; RV: right ventricle.
(a): Intraoperative photograph showing the large infrarenal aortic aneurysm. (b): Intraoperative image after completion of the aneurysm repair using 7-mm polyester graft. (c): Volume-rendered projections of CT aortogram in RAO projection showing saccular infrarenal abdominal aortic aneurysm (IRAA). Remaining visceral arteries and iliac arteries are normal in size without any focal dilation. (d): CT aortogram 6 months after repair showing no residual aneurysm. CT: computed tomography; RK: right kidney; LK: left kidney.
Ethical statement
Patient consent was obtained prior to submission of this case report. Institutional ethical committee approval was not obtained as it is a single case report and all patient identifiers are removed from text and figures.
DISCUSSION
Symptomatic infantile Marfan syndrome has been reported to have a more severe presentation due to cardiovascular system involvement. This is usually due to significant valvar regurgitation or due to ascending aortic dilatation [1–4]. Mortality is high and is attributed to intractable heart failure due to valvar regurgitation. Management consists of appropriate surgical and medical management of these lesions. The mutation identified with severe cardiovascular manifestations and neonatal presentations are c.813C>A and mutations in Exons 24–32, which are different from the mutations identified in our patient [5]. Our patient had a rare presentation with coronary and abdominal aortic aneurysm without valvar or ascending aortic involvement. Our patient underwent early repair for the large saccular infrarenal aneurysm with PTFE graft. Use of expandable Exgrafts (PECA labs) are better to prevent need for graft revision, but these are currently unavailable at our institution. Coronary artery involvement in the form of spontaneous dissection and aneurysms have been described in adults with Marfan’s syndrome and has been shown in autopsies to be due to cystic medial necrosis of the coronary arteries. Management algorithms for coronary artery aneurysms in infancy are available for Kawasaki disease [6] and is primarily focused on oral anticoagulation to prevent thrombosis as mortality is primarily due to occlusive thrombus formation rather than rupture. Occlusive thrombus is managed by thrombolysis or angioplasty and recanalization. Stenotic lesions maybe managed by coronary angioplasty. Coronary artery bypass grafting is advised in cases with multiple stenotic lesions, diffuse stenosis and in cases where percutaneous treatment is unlikely to yield good results and is preferably done with arterial grafts only. Guidelines available for management of coronary artery aneurysm in Kawasaki disease were followed in our case also as there is no available literature on coronary artery aneurysms in infantile Marfan and the patient was started on oral anticoagulation.
CONCLUSION
Aneurysms of the coronary artery and abdominal aorta in infantile Marfan syndrome pose challenges in management in infancy. Though aortic aneurysms are best tackled surgically, medical management of coronary aneurysms maybe advisable unless symptomatic due to thrombotic occlusion or rupture.
FUNDING
None declared.
Conflict of interest: None declared.
DATA AVAILABILITY
No new data were generated or analysed in support of this research.
