Historical Note

Smith and Worthington suggested that the Italian violinist Nicolo Paganini may have had Ehlers-Danlos syndrome69. This hypothesis was offered as an explanation for the violinist's extraordinary talent. Bennati, who had treated Paganini, published his initial observations in 183170:

Paganini is pale and thin, and of medium height. Although he is only 47 years old, his leanness and lack of teeth, which causes his mouth to be drawn in and leaves his chin more salient, give his countenance the expression of more advanced age. At first glance, his bulky head, which is supported by a long slender neck, offers a rather marked disproportion with his fragile limbs His chest is narrow and rounded; his left side being slightly less ample than the right side and slightly depressed in the superior part. Breathing is equal and easy, though the right side distends more than the left Let one but remark the manner in which he grasps and places his violin, or the position in which he sometimes places his arm, and then tell me of an artist who can imitate him. For example, who else, to produce certain effects, would be able to cross his elbows almost one on top of the other before his chest? ... Where else, except in Paganini would we find that natural arrangement which prodigiously facilitates his playing: the left shoulder being more that an inch higher that the other—which, when he stands with his arms hanging down, makes the right seem much longer that the left? And the extensibility of the capsular ligaments of both shoulders, the slackness of the ligaments which connect the wrists to the forearm, the carpals to the metacarpals and the phalanges—who else will have these and thus have ability to do what he does? ... His hand is not of disproportionate size, but, he doubles its reach by the extensibility achieved in all the parts. For example, he can impart to the first phalanges of the fingers of his left hand ... an extraordinary flexing motion which, without the hand moving, bears them in a direction lateral to their natural flexion—and this with ease, precision, and speed. ... Nature must have bestowed upon him the organic disposition which practice perfected.

Figure 13.1. 27-year-old male with dyspnea and previously unrecognized Marfan syndrome. No history of chest pain. The patient underwent emergency composite replacement of the aortic root and ascending aorta, and arch. His postoperative course was uneventful, (a) TEE View: The aortic root and ascending aorta are severely dilated (9.1 cm). There is complete effacement of the sinotubular junction. The aortic valve leaflets are "tented" due to root dilation and traction on the upper aspect of the cusps. No intimal flap is seen in this plane at this level of the aorta, (b) Transthoracic apical view with color Doppler. There is severe aortic regurgitation, due to dilation of the aortic root.

Figure 13.1. (Continued) (c) The aorta is still dilated at the level of the arch. An intimal flap is present along the posterior wall of the arch (arrows), (d) The responsible tear was in the distal arch and can be seen on this transthoracic view as a (PISA) proximal isovelocity surface area (arrows).

Figure 13.1. (Continued) (c) The aorta is still dilated at the level of the arch. An intimal flap is present along the posterior wall of the arch (arrows), (d) The responsible tear was in the distal arch and can be seen on this transthoracic view as a (PISA) proximal isovelocity surface area (arrows).

Figure 13.2. 19-year-old male who developed severe chest pain while playing basketball. The pain lasted for 20 hours before he sought medical attention. He had numerous Marfanoid features. The patient underwent emergency composite replacement of the root, ascending aorta, and arch. His postoperative course was uneventful, (a) Transthoracic echo, short axis at the aortic root level. The aortic root is severely dilated and there is an intimal flap (arrows). A tear in the intimal flap can be seen (arrowheads), (b) Transthoracic echo, suprasternal approach. The intimal flap is readily visible (arrows).

Figure 13.3. 38-year-old woman with Marfan syndrome, who five years previously had an elective valve sparing repair' of the root and ascending aorta. Postoperative CT scans were performed yearly. Her blood pressure was always low/normal on chronic beta blockade. Postoperatively, she developed moderate (3 + ) aortic regurgitation due to dilation of the sinuses of Valsalva. The patient was hesitant to undergo repeat surgery, (a) CT scan with contrast at the level of the distal aortic arch. There is an intimal flap in the severely dilated, proximal descending thoracic aorta, which was not clinically suspected, (b) CT scan with contrast at the level of the aortic root. Note the origins of the left and right coronary arteries (arrows). The descending thoracic aorta is of normal caliber at this level, though the intimal flap remains obvious (arrowheads). This cut does not demonstrate the root pathology responsible for her postoperative aortic regurgitation, though it was felt due to continued dilatation of a cuff of native tissue left at the time of her initial

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