International Journal of Health & Allied Sciences

: 2012  |  Volume : 1  |  Issue : 1  |  Page : 29--31

Marfan syndrome: Exploring its jurisdiction

Dilip Gude1, Dharam Pal Bansal2, Saurabh Patle1, Syed Naveed1,  
1 Department of Internal Medicine , Medwin Hospital, Nampally, Hyderabad, AP, India
2 Department of Internal Medicine and Pulmonology Critical Care, Medwin Hospital, Nampally, Hyderabad, AP, India

Correspondence Address:
Dilip Gude
Registrar, Internal medicine, Medwin Hospital, Nampally, Hyderabad - 500 001, AP


Marfan syndrome is an inherited disorder of connective tissue with multisystem involvement. Associations with tuberculosis may quagmire the diagnostic capacities in delineating the exclusivity of pulmonary spectra of Marfan syndrome from tuberculosis especially in sputum negative (for acid fast bacilli) patients. The disorder also casts a huge spectrum of clinical manifestations some of them less known. We discuss our case of Marfan syndrome with sputum positive tuberculosis and explore the occurrence of such unusual presentations.

How to cite this article:
Gude D, Bansal DP, Patle S, Naveed S. Marfan syndrome: Exploring its jurisdiction.Int J Health Allied Sci 2012;1:29-31

How to cite this URL:
Gude D, Bansal DP, Patle S, Naveed S. Marfan syndrome: Exploring its jurisdiction. Int J Health Allied Sci [serial online] 2012 [cited 2021 Apr 11 ];1:29-31
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Full Text


Marfan syndrome (MfS) is an autosomal dominant disorder caused by a heritable genetic defect of connective tissue (FBN1 gene which codes for the protein fibrillin). [1] It results in a wide spectrum of clinical manifestations, some of which are under reported. We present a case of MfS with pulmonary tuberculosis and a few remarkably deviant features. The pertaining literature is discussed.

 Case Report

An 18-year old male, born of a nonconsanguineous marriage presented with cough, breathlessness, and fever since 1 week. He also complained of aching in the very low back (almost in the tailbone), abdominal pain, headaches, and proximal leg pain. His family history was unremarkable. On examination he was a tall, thin built male with upper segment to lower segment (US: LS) ratio of 0.85, arm span more than height, and had hyperteloric facies, dolichocephalic skull [Figure 1], and retrognathia. His left eye sported a divergent squint with bluish sclera. His lower back showed stretch marks (striae atrophicae). He also had arachnodactyly [Figure 2], pectus carinatum ­[Figure 3], scoliotic spine, and a right-sided indirect inguinal hernia. He was hemodynamically stable and auscultation revealed crepts and occasional rhonchi on the left side. Examination of other systems was normal. But for the exotropia, ophthalmological exam was normal (ectopia lentis was absent). His sputum tested positive for acid fast bacilli and CT chest was suggestive of pulmonary Koch's related fibrocavitatory lesions and cystic bronchiectasis with atelectasis of left upper lobe. X-rays confirmed the bony abnormalities. 2D Echo demonstrated myxomatous mitral valve with mild prolapse, dilated aortic root, mild aortic, and tricuspid regurgitation with mild pulmonary arterial hypertension. Having diagnosed of Marfan's syndrome with sputum positive pulmonary Koch's he was started on antituberculous therapy.{Figure 1}{Figure 2}{Figure 3}


Our patient characteristically qualified the 2010 revised Ghent nosology [2] (aortic criteria and systemic score greater than 7; negative family history) for the diagnosis of MfS. However there were some unusually noteworthy associations that are discussed.

A case was reported where-in the upper lobe fibrosis, bronchiectasis, emphysematous changes, multiple blebs, small pneumothorax, pleural fibrosis, and pleural thickening were misdiagnosed as to be of tuberculous etiology. The cultures being negative for MTB (mycobacterium tuberculosis) it was later comprehended that the spectrum of such presentation was actually that of MfS. [3] A similar presentation was seen in our case but the sputum being positive for AFB incriminates tuberculosis as causative factor although a reasonable degree of overlap of MfS may also be present. MfS complicated by fibro-cavernous pulmonary tuberculosis and aspergillosis has also been reported. [4]

A study reported that the incidence of strabismus in MfS is 19.2% with exotropia (divergent squint) in 11.7%. [5] The higher prevalence of strabismus in MfS is postulated to be due to the abnormal afferent visual inputs to cortical centers caused by ectopia lentis, craniofacial abnormalities, and ­mechanical and genetic factors. Our patient sported exotropia but characteristically lacked ectopia lentis (usually present in 50-80% of MfS). Blue sclera, an inconstant sign of MfS, was also seen in our patient.

The raised right ventricular systolic pressure (42 mm of Hg) and tricuspid regurgitation in our patient may be the consequences of long-standing lung disease with some contribution from his mitral valve prolapse (MVP incidence in MfS of about 50%). [6] Severe PAH has been reported secondary to MVP. [7] His characteristic aortic root dilatation warrants regular follow-up with 2D echo. A case of MfS was reported which featured the Moya Moya phenomenon with aortic dissection. [8]

Among the bony abnormalities, protrusio acetabuli (an incidence in MfS of 31%) [9] is one of the striking features in our case. On an anterior--posterior (AP) pelvic film, medial protrusion of the acetabulum ≥3 mm beyond the ilio-ischial (Kohler) line is diagnostic. Its presence is not known to correlate with the bone mineral content of the hip and pelvis or with clinical symptoms. Our patient typically demonstrated the wrist and thumb signs (positive arachnodactyly), dolicocephaly (cephalic index of 70), scoliosis, pectus carinatum, and dolichostenomelia. The arm span to height ratio in our patient was exaggerated (1.2) and is mostly secondary to the scoliosis.

Stria atrophicae were found in mid back, lumbar region, upper arm, and axillary region. Elastic fibre fragmentation has been incriminated as to the etiopathology. Indirect inguinal hernia in our patient, although not one of cardinal feature mentioned in Ghent nosology, highlights the inherent connective tissue deficiency.

The vague symptoms of aching in the tailbone, headaches, proximal leg pain in our patient are due to dural ectasia (incidence in MfS of 63 to 92% although not very specific) confirmed on MRI. [10] The symptoms are worse when sitting or standing upright for too long, and are only rarely relieved by recumbency.


Our case exemplifies the need for clinicians to be aware of the plethora of unorthodox manifestations of Marfan syndrome and calls for a high index of suspicion in diagnosing the same. Such knowledge helps brace oneself to deal with the complications and bolsters our management strategies.


We thank our colleagues and staff of internal medicine.


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