The
content of the Dermatology Series is provided by:
Dr. Chan Loi Yuen and Dr. Tang Yuk Ming, William
Specialists in Dermatology & Venereology
皮膚科病例研究之內容誠蒙陳來源醫生及鄧旭明醫生提供。
Online Clinical Case Study (December 2002)
A 20 year old female seeks your advice for pre-pregnancy counseling. She had family history of Marfan syndrome. She was asymptomatic and remained in functional class I all along. Echocardiographic examination and CT thorax showed her aortic sinus measurement at 42mm. No evidence of mitral valve prolapse, aortic regurgitation was detected. Left ventricular function and dimensions were normal.
The
content of the Office Cardiology Series is provided by:
Dr. Yiu Siu Fung
M.B.,B.S.(H.K.), M.R.C.P.(U.K.), F.H.K.A.M., F.H.K.C.P., Specialist
in Cardiology
Dr. Wong Shou Pang, Alexander
F.R.C.P., F.H.K.A.M.(Med.), F.H.K.C.P., Specialist in Cardiology
Dr. Li Siu Lung, Steven
M.B.,B.S.(H.K.),
M.R.C.P.(U.K.), F.H.K.A.M., F.H.K.C.P., F.R.C.P. (Glasg.), Specialist in Cardiology
臨床心臟科個案研究之內容誠蒙姚少峰醫生、王壽鵬醫生及李少隆醫生提供。
What would you recommend? Please choose one of the followings and explain.
(1) Question the
diagnosis of Marfan syndrome and request genetic evaluation.
(2) Avoid pregnancy due to the size of the aorta.
(3) Okay to proceed with pregnancy.
(4) Avoid pregnancy due to the autosomal dominant inheritance of Marfan syndrome.
(5) Referral for surgical intervention now.
Answers
Statement (2)
Aortic size > 40 mm is an ABSOLUTE contraindication to pregnancy in Marfan syndrome.
Presence of preexisting medial wall changes together with hormonal and physiological changes of pregnancy will pose unpredictable maternal risk especially in regards to aortic dissection and rupture. You may refer to the article "A Prospective Longitudinal Evaluation of Pregnancy in the Marfan Syndrome" by J. Pratt Rossiter et. al. published in Am J Obstet Gynecol 1995, 173:1599-1606 for further information.
The fetal risk is 50% chance of inheritance (autosomal dominant).
Diagnosis of Marfan syndrome can usually be established by comprehensive clinical evaluation.
The revised diagnostic criteria for the Marfan syndrome (Gent Criteria 1996; Am J Med Genetics 1996, 62:417-26) requires presence of major criteria in 2 different organ systems and involvement in a third organ system for diagnosis of an index case. In the presence of family history, presence of one major criteria in an organ system and involvement in a second organ system will suffix.
There should be no immediate indications for surgery in this particular patient. Indications for surgery included:
1) Aortic size >
2x predicated for age and BSA;
2) Increase in aortic size > 1 cm per year;
3) Aortic size > 5 to 5.5 cm;
4) Increasing aortic regurgitation, mitral valve prolapse with mitral regurgitation,
family history of dissection.
Medical treatment remained to be the most important aspect in the management of this patient. Beta blocker had been shown in multiple studies (Shores, NEJM 1994) to decrease rate of aortic root dilatation and rate of cardiovascular complications. It should be started as a low dose and increase as tolerated. She should be referred to the cardiologist for serial echocardiographic or CT/MRI follow up.
Other important aspects of management are
1) Skeletal, and
ocular follow up;
2) Family screening;
3) Avoid contact sports, isometrics, change in atmospheric pressure;
4) Infective endocarditis prophylaxis.
A 40 year old gentleman complained of numbness on his tongue for two weeks. He suffered from chest infection and herpes zoster two and four months ago respectively. He also experienced marked weight loss recently. There was no history of long-term drug intake. Physical examination revealed whitish plaques on his tongue and buccal mucosa. The lesion could be partially scraped off to leave a raw mucosal surface.
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Answers