|Year : 2014 | Volume
| Issue : 2 | Page : 139-141
Intramural aortic hematoma in an 11-years-old girl with Marfan's syndrome
Ibrahim Aliyu, Helen O Akhiwu
Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
|Date of Web Publication||3-Oct-2014|
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
Source of Support: None, Conflict of Interest: None
Marfan's syndrome is a rare congenital connective tissue disorder. It occurs worldwide with no sex predilection. Mutation in the fibrillin genes result in production of abnormal elastic tissue, which predisposes the aorta to cystic medial degeneration and may result in dissection, rupture, or aneurysm formation. Other vascular structures like the heart valves may also be involved causing aortic regurgitation and mitral valve prolapse and regurgitation. Aortic dissection is rare in children even in those with Marfan's syndrome. We report a case of an 11-years-old girl with Marfan's syndrome who had an intramural aortic hematoma.
Keywords: 11-years-old, aortic hematoma, intramural, Marfan′s syndrome
|How to cite this article:|
Aliyu I, Akhiwu HO. Intramural aortic hematoma in an 11-years-old girl with Marfan's syndrome. Nig J Cardiol 2014;11:139-41
| Introduction|| |
Marfan's syndrome was first described in 1896 by Dr Antoine.  It is an inherited connective tissue disorder with a reported incidence of 1 in 10,000 to 20,000 people in the western world. However, review of literature from the west African region has revealed very little information about the disease in our own environment. ,, Apart from the fact that Marfan's syndrome is uncommon in our environment, periaortic hematoma is even more uncommon, more so in children under 16 years of age. 
Marfan's syndrome is due to mutation in the gene encoding for fibrillin. Approximately two-third of cases are familial with autosomal dominant mode of inheritance, whereas the remaining one-third are due to sporadic mutations.  The disease is multisystemic and characterized by long bone overgrowth, skeletal abnormalities, dislocation of the ocular lens, mitral valve prolapse, and dilatation of the aortic root among other features.  Aortic dissection is rare in individuals younger than 40 years of age.  The interplay of three factors are thought to be responsible for the pathogenesis of most cases of aortic dissection. First is an abnormality or weakening of the aortic media, which may occur with ageing, in some congenital cardiovascular anomalies and the fibrillinopathies. The second is an agent of intimal injury or tear as observed in atherosclerosis or hypertension, and the third is the systemic blood pressure that is responsible for a pressure head that drives blood to dissect the aortic wall.  In Marfan's syndrome, the abnormal elastic tissue predisposes the aorta to cystic medial degeneration, which may result in dissection, rupture, or aneurysm formation. However, this complication usually presents between 30 and 50 years of age,  which makes this index case quite unique. Therefore, we report an 11-years-old Nigerian girl with Marfan's syndrome complicated by periaortic hematoma.
| Case report|| |
An 11-years-old girl being followed up in the cardiopulmonary clinic of our unit for Marfan's syndrome [Figure 1],[Figure 2] and [Figure 3] diagnosed since the sixth year of life. She had been stable on propranolol since diagnosis but defaulted from the clinic for 2 months and was off her medications for 4 weeks following which she presented with dizziness and weakness severe enough to prevent her from walking unsupported necessitating her representation. On examination, the significant findings were that she was weak and unable to stand and she had cold clammy extremities. Her pulses were regular, small volume with a rate of 140 beats/min. Her blood pressure was 80/60 mmHg in her right arm in the supine position, and she had a displaced apex beat that was at the sixth left intercostal space at the anterior axillary line. Her heart sounds consisted of the first and second heart sounds with an apical grade 3 pansystolic murmur radiating toward the axilla. She also had a diastolic murmur at the upper right sternal margin. Her respiratory rate was 30/min regular with a percutaneous oxygen saturation of 100% in room air. Breath sounds were vesicular and there were no added sounds. There were no other significant findings. A diagnosis of Marfan's syndrome with aortic regurgitation, mitral regurgitation, and poor drug compliance was made. She was placed on normal saline and propranolol.
|Figure 1: Arachnodactyly. With permission from Akhiwu HO, Aliyu I, Abdallah RJ. Sporadic Marfan's syndrome in an 11-years-old girl. A case report. Pyramid Journal of Medicine 2012;1(2):30-2|
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|Figure 2: Walker-Murdoch sign. With permission from Akhiwu HO, Aliyu I, Abdallah RJ. Sporadic Marfan's syndrome in an 11-years-old girl. A case report. Pyramid Journal of Medicine 2012;1(2):30-2|
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Chest X-ray showed prominence of the aortic arch [Figure 4]; 2 dimensional (2D) echocardiograph showed thickened aortic wall with periaortic echogenic mass (hematoma) around the anterior leaflet of the aortic valve [Figure 5] on two planes, whereas Doppler studies showed severe aortic and mitral valves regurgitations. Patient stabilized on conservative management. She improved on medical management and was discharged home 1 week after admission. Repeat echocardiography showed nonprogression in the size of the hematoma.
|Figure 5: Left parasternal long axis view; arrow showing the echogenic mass (hematoma), which is periaortic, with dilated aortic root and thickened aortic valve leaflets and anterior (arrow head) mitral valve leaflets|
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| Discussion|| |
Intramural aortic hematoma is a variant of aortic dissection and is included in the acute aortic syndrome.  It is classified using the DeBakey and Stanford (Daily) systems; however, in aortic intramural hematoma, there is absence of an aortic flap and double channel aortic flow typical of aortic dissection, though intimal microtear has been implicated in its pathogenesis.  An intramural hematoma may progress to a true aortic dissection.
The typical patient with aortic dissection is a male in his sixth decade of life. However, the presentation of aortic dissection may be variable and a high index of suspicion should be entertained in at risk patient. In aortic dissection the pain is usually abrupt and migrates as the dissection progresses.  Although tearing is the classical description, the pain is often described as sharp.  Aortic dissection is painless in about 10% of patients.  Painless dissection is commoner in those with neurologic complications from the dissection and those with Marfan's syndrome,  as was observed in our patient who presented only with complaints of dizziness and weakness and did not have chest pain.
Aortic intramural hematoma is often associated with longstanding hypertension and rare in patients with Marfan's syndrome.  However, in our patient, hypotension was documented and she was never hypertensive. Why this occurred is not clear, though cardiac tamponade may result in hypotension and syncope  but this patient did not have those features of tamponade. Furthermore, cardiogenic shock has also been reported in patients with type A aortic intramural hematoma, but she stabilized on intravenous fluids only and was subsequently placed on propranolol. Despite our ability to recognize this severe life-threatening condition, the absence of facilities such as transesophageal echocardiography, helical computer tomography (CT), and cardiac magnetic resonance imaging (MRI), which would have further delineated and shown the extent of the lesion, lack of facilities for appropriate surgical intervention, and the cost of such intervention if sourced abroad is a severe limiting factor to the management of this condition even in the adult population in our setting. Therefore, there is the need to improve on the level of service delivery, which will reduce the need for medical tourism.
| Conclusion|| |
Aortic dissection is life threatening with great limitations in its diagnosis in a resource-limited setting like ours, and transthoracic echocardiography is still of benefit in its diagnosis especially in the type A lesion despite its limitations.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]