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LETTER TO THE EDITOR
Year : 2022  |  Volume : 20  |  Issue : 4  |  Page : 265-266

Marfan syndrome


Department of Medicine, SMS Medical College, Jaipur, Rajasthan, India

Date of Submission20-May-2022
Date of Decision23-Jun-2022
Date of Acceptance24-Jun-2022
Date of Web Publication17-Oct-2022

Correspondence Address:
Dr. Arihant Seth
Department of Medicine, SMS Medical College, Jaipur, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/cmi.cmi_53_22

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How to cite this article:
Seth A, Mathur A, Mathur N, Pahadiya HR. Marfan syndrome. Curr Med Issues 2022;20:265-6

How to cite this URL:
Seth A, Mathur A, Mathur N, Pahadiya HR. Marfan syndrome. Curr Med Issues [serial online] 2022 [cited 2022 Dec 5];20:265-6. Available from: https://www.cmijournal.org/text.asp?2022/20/4/265/358644



A 34-year-old male presented with exertional breathlessness (New York Heart Association grade III) and palpitation due to chronic aortic insufficiency and bicuspid aortic valve in the past 6 months. He also had progressive diminution of vision. He denied a history of trauma. There was no history of similar illness in his family. On examination, he had elongated fingers. His arm span was 190 cm and his height was 178 cm. His thumb protrudes from the clenched fist “Thumb sign” or “Steinberg sign” [Figure 1]a. He could easily grip his wrist with overlapping of thumb and little finger of opposite hand “Wrist sign” or “Walker–Murdoch sign” [Figure 1]b. His uncorrected visual acuity was 6/18 in both eyes. Slit-lamp examination revealed temporosuperior subluxation of lenses with zonular deficiency in both eyes [Figure 1]c. Skin striae are noticed on the abdomen of the patients [Figure 1]d. The patient also had other features of Marfan syndrome, including a high-arched palate, pectus excavatum, crowding of teeth, and flat feet. Genetic testing was not done due to affordability issues.
Figure 1: Patient's thumb protrudes from the clenched fist “Thumb sign” or Steinberg sign” (a). He could easily grip his wrist with overlapping of thumb and little finger of opposite hand “Wrist sign” or “Walker–Murdoch sign” (b). Slit-lamp examination revealed temporosuperior subluxation of lenses with zonular deficiency in both eyes (c). Skin striae on the abdomen of the patients (d).

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Marfan syndrome is an uncommon, connective tissue disorder, inherited as autosomal dominant pattern, and characterized by loss of connective tissue. Few patients can have sporadic mutations. This results skeleton abnormalities which include long and slender fingers (arachnodactyly) and extremities with hypermobile joints, dislocation of lenses, and cardiovascular abnormalities.[1],[2] Aortic root dilatation with or without dissection, aortic insufficiency, bicuspid aortic valve, mitral valve prolapse, and mitral regurgitation are common cardiac problems. The subluxation of lenses may subclinical and are usually bilateral. Cataract, retinal detachment, or glaucoma can develop. Skin striae in Marfan syndrome are common at sites subjected to stress such as the shoulder, hip, buttock, abdomen, and back. Other common features of Marfan syndrome, includes ductal ectasia, high-arched palate, pectus excavatum, pectus carinatum, scoliosis, crowding of teeth, pes planus, and pneumothorax. Slit-lamp examination and echocardiography should be done in all suspected cases of Marfan syndrome. The diagnosis is done with the help of international Ghent standard criteria. “Seven signs” of Marfan may be used for screening purpose, which assign 4 points to ectopia lentis, 2 to family history of Marfan syndrome, and 1 point to previous thoracic surgery, to wrist and thumb sign, to previous pneumothorax, to skin striae, and to pectus excavatum. The pretest probability of Marfan syndrome is classified as follows; low (≤1 point), moderate (1–3.5 points), and high (≥3.5 points).[3],[4] Multidisciplinary surgical approach of cardiac valves, bracing or surgeries of scoliosis, and vitreoretinal and cataract surgeries have been used successfully in many patients. Aortic root dilation (>4.5 cm) may be delayed with the use of beta-blocker, or angiotensin II receptor blocker. Social and psychological support and regular follow-up are required.[1],[2],[3],[4]

Consent

Written informed consent was obtained from the patient for publication of this case report and any accompanying images.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Prockop DJ, Bateman JF. Heritable disorders of connective tissue. In: Jameson J, Fauci AS, Kasper DL, Hauser SL, Longo DL, Loscalzo J, editors. Harrison's Principles of Internal Medicine. 20th ed. New York: McGraw Hill; 2018. p. 2975-6.  Back to cited text no. 1
    
2.
Pyeritz AE. The Marfan sndrome. Annu Rev Med 2000;51:481-510.  Back to cited text no. 2
    
3.
von Kodolitsch Y, Backer JD, Schuler H, Bannas P, Behzadi C, Bernhardt AM, et al. Perspective on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet 2015;8:137-55.  Back to cited text no. 3
    
4.
Sheikhzadeh S, Kusch ML, Rybczynski M, Kade C, Keyser B, Bernhardt AM, et al. A simple clinical model to estimate the probability of Marfan syndrome. QJM 2012;105:527-35.  Back to cited text no. 4
    


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