Multisystem Processes & Disorders


{"ops":[{"insert":{"image":"\/storage\/case-images\/cs\/G5_F1.jpg"}},{"insert":"\n\n"},{"insert":"\u0022Wonderful,\u0022 you think irritably, as you check the delivery company\u0027s website.\n\nYou arrived home a couple of days ago after speaking at a conference, only to find out that the airline had misplaced your luggage. While they promised to courier it to you \u0022overnight,\u0022 they appear to be stretching the term to its limit.\n\nAs you continue to silently curse the airline, your next patient walks in.\n"}]}


{"ops":[{"insert":{"image":"\/storage\/case-images\/cs\/G5_F2.jpg"}},{"insert":"\n\n"},{"insert":"Sifani is a 28 year-old lady of Pakistani origin. She married David (who is a citizen of your country) just a couple of months ago, and is in the process of applying for permanent residency.\n\nSifani carefully hands you an old but carefully preserved card. As you go through it, you realize that it is a hospital record from her childhood, which shows her to have Marfan Syndrome.\n"}]}


{"ops":[{"insert":"Sifani tells you that she has not been followed up for nearly fifteen years now. However, since her marriage it is her wish to become pregnant and she realized the importance of a medical review in that setting. You congratulate the couple on their marriage, and remark that it was indeed a wise decision to seek medical care.\n\nTaking your time, you perform a thorough physical examination. During this, you see that almost all classical features of Marfan Syndrome are present. You also note that her blood pressure is 110\/80 mmHg, and that her pulse is 84 bpm and regular, with a good volume. No cardiac murmurs are audible.\n\nAs so much time has passed since the initial diagnosis, you explain that you\u0027d like to conduct some investigations for independent confirmation. Both Sifani and David agree.\n"}]}


{"ops":[{"insert":{"image":"\/storage\/case-images\/cs\/G5_F4.jpg"}},{"insert":"\n\n"},{"insert":"Your tests confirm the presence of Marfan Syndrome, as per the Ghent criteria. The FBN1 test is also positive.\n\nA transthoracic echocardiogram reveals aortic root dilatation of 5.1 cm, in association with mild left ventricular dilatation. Minimal mitral and aortic regurgitation is also present.\n\nA cardiac MRI confirms the echocardiographic findings.\n"}]}