Acute Aortic Valve Prolapse in Marfan's Syndrome N.J

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Postgrad Med J (1991) 67, 208 - 209 i The Fellowship of Postgraduate Medicine, 1991 Postgrad Med J: first published as 10.1136/pgmj.67.784.208 on 1 February 1991. Downloaded from Acute aortic valve prolapse in Marfan's syndrome N.J. Carr and S.A. Cullen

RAFInstitute ofPathology and Tropical Medicine, Halton, Aylesbury, Bucks HP22 5PG, UK

Summary: A 22 year old man with Marfan's syndrome died suddenly following acute aortic valve prolapse. Although aortic root involvement in Marfan's syndrome is common, we have found no previous description of this particular complication in the literature.

Introduction Life expectancy is reduced in Marfan's syndrome, Ophthalmic examination disclosed a persistent and it is the cardiovascular manifestations of the hyaloid artery and deep anterior chambers but disease that lead to the poor prognosis." 2 We report there was no ectopia lentis. a case of Marfan's syndrome which is unusual in Laboratory investigations were unremarkable. that degeneration of the aortic root resulted in a Radiography demonstrated an enlarged heart with sudden fatal prolapse of the aortic valve. a widely dilated aortic root. Echocardiography showed a volume overloaded left ventricle with mild left ventricular hypertrophy; the end diastolicProtected by copyright. Case report dimension was 6.8 cm and the end systolic dimension 5.5 cm. The aortic root was greatly enlarged at A 22 year old baker was admitted to hospital with 7 cm. Cardiac catheterization, performed 10 days an influenza-like illness. For two days it was after his episodes of chest pain, was reported as associated with several episodes of central chest showing severe aortic regurgitation and mild mitral pain which he described as a tightness in the chest regurgitation but no evidence of arch dissection. 'as though someone was sitting on it'. Each episode The mean pulmonary wedge pressure was lasted about half an hour. These were his only 18 mmHg, the left ventricular pressure 100/ symptoms ofcardiovascular disease and before this 2 mmHg and the aortic pressures 100/45 mmHg. admission his health had been good and he had The findings suggested aortic regurgitation due to never complained of breathlessness, anginal pain dilatation of the aortic ring and the patient was or palpitations. Although Marfan's syndrome had referred for excision and replacement of the ascen- not been diagnosed in his family, his father and ding aorta and possible resuspension of the aortic brother measured 193 cm and 188 cm in height valve. However, one month later, before the oper- http://pmj.bmj.com/ respectively, and his mother and sister were both ation could be performed, he complained of more 178 cm tall. severe chest pain, suddenly collapsed and died. His appearance was typical of Marfan's syn- Post-mortem examination showed a greatly drome. He was 198 cm tall, weighed 75 kg and had enlarged heart weighing 940 g with dilatation and an arm span of 203 cm. Examination revealed a hypertrophy of both ventricles. The mitral, tricus- pigeon chest, high arch palate and arachnodactyly. pid and pulmonary valves all showed a moderate His pulse rate was 100, collapsing, with a blood degree of dilatation of their rings cir- (mitral on September 23, 2021 by guest. pressure of 130/55 mmHg. The apex beat was in the cumference 145 mm, tricuspid 148 mm, pulmonary sixth intercostal space in the anterior axillary line 115 mm). However, their cusps appeared normal where a systolic thrill was palpable. A pansystolic and there was no evidence ofa 'floppy' mitral valve. murmur was present at the apex and a long early The aortic ring was dilated, measuring 130 mm diastolic murmur together with a fourth heart in circumference, and its valve was grossly incom- sound were heard at the right sternal border. petent. Ajet lesion was seen on the interventricular septum. Immediately above the posterior commissure there was a V-shaped intimal tear 28 mm long (Figure 1). This had passed behind the posterior commissure resulting in detachment of the commissure from the aortic wall and marked prolapse Correspondence: Squadron Leader N.J. Carr, M.B., B.S. of the right coronary cusp and non-coronary cusp. Accepted: 20 September 1990 Histological examination of the aorta in the CLINICAL REPORTS 209 Postgrad Med J: first published as 10.1136/pgmj.67.784.208 on 1 February 1991. Downloaded from

Discussion Lesions of the aorta and its valve are common in Marfan's syndrome;2-4 in one series of 34 post- mortem cases5 only one had an entirely normal heart. Dilatation ofthe aortic ring, dilatation ofthe ascending aorta and aortic incompetence all occur singly or in combination. Weakening of the aortic wall may also result in dissecting aneurysm, per- foration, or limited intramedial dissection forming a laceration or tear with retraction of the edges. This weakening is often associated with the histological changes of cystic medial necrosis,2'4 as in this case. The chordae tendinae may be elongated and thinned, and they occasionally rupture. Other cardiovascular abnormalities reported frequently Figure 1 The ascending aorta, aortic valve and origin of in Marfan's syndrome include septal defects, pa- the right coronary artery (arrow). A V-shaped tear tent ductus arteriosus, coarctation ofthe aorta and causing loss of commissural support is visible (arrow- conduction defects. Common causes of death in- heads). clude congestive cardiac failure and rupture of dissecting aneurysm. This case is unusual in that medial degeneration caused sudden prolapse ofthe aortic valve owing to vicinity of the tear showed the appearances of loss of commissural support without associated cystic medial necrosis. dissection of the aorta. Protected by copyright. Fusiform dilatation of the ascending aorta There is clinical relevance in the recognition of extended to the origin of the brachiocephalic cardiovascular involvement in Marfan's syndrome artery. This aneurysmal dilatation involved the because surgical repair of most lesions is possible.6 sinuses of Valsalva resulting in an apparently high Echocardiography is valuable in detecting and origin of the right coronary artery. In addition, the classifying lesions.7 In this case it is unfortunate aorta showed several old intimal tears. The cor- that the patient died while he was on the waiting list onary arteries showed no atheroma. The lungs for surgery. were moderately oedematous. It was considered that death was due to sudden prolapse of the aortic valve, which, in addition to Acknowledgements severe haemodynamic effects, could have caused acute myocardial ischaemia due to failure of cor- We thank the Director General of Medical Services, onary artery perfusion. Royal Air Force, for permission to publish this paper. http://pmj.bmj.com/

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