|
 
 |
| LETTER TO THE EDITOR |
|
| Year : 2022 | Volume
: 20
| Issue : 4 | Page : 265-266 |
|
Marfan syndrome
Arihant Seth, Ajay Mathur, Nitish Mathur, Hans Raj Pahadiya
Department of Medicine, SMS Medical College, Jaipur, Rajasthan, India
| Date of Submission | 20-May-2022 |
| Date of Decision | 23-Jun-2022 |
| Date of Acceptance | 24-Jun-2022 |
| Date of Web Publication | 17-Oct-2022 |
Correspondence Address:
Dr. Arihant Seth
Department of Medicine, SMS Medical College, Jaipur, Rajasthan
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/cmi.cmi_53_22
How to cite this article:
Seth A, Mathur A, Mathur N, Pahadiya HR. Marfan syndrome. Curr Med Issues 2022;20:265-6 |
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).
Click here to view |
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 | |  |
| 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. 20 th ed. New York: McGraw Hill; 2018. p. 2975-6.  |
| 2. | Pyeritz AE. The Marfan sndrome. Annu Rev Med 2000;51:481-510. |
| 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. |
| 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. |
[Figure 1]
|
Search Pubmed for