MARFANS SYNDROME-A CASE REPORT - TJPRC: International …
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www.tjprc.org [email protected] MARFANS SYNDROME-A CASE REPORT MEENA, PRAVEENA, PRIYA & KRITHIKA & VIMAL Department of Oral Medicine & Radiology, Thai Moogambigai Dental College & Hospital, Chennai, Tamil Nadu, India ABSTRACT Marfan’s syndrome is a connective tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1, with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body 1 . The diagnosis of Marfan’s syndrome is established in accordance with a review of the following diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan’s syndrome. Here with we are discussing a case of a 27 years old man who presented with typical features of Marfans syndrome. KEYWORDS: Connective Tissue Disease, Marfans Syndrome, Aortic Root Dilatation INTRODUCTION This condition was first described in 1896, the French pediatrician antoine Bernard-Jean Marfan. It involves the multi organ system like cardiovascular, skeletal and Ocular systems, the integument, lungs and Dura. Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. A family history of Marfan’s syndrome has been found to be present in 49% of the families of individuals with this condition 2 . In about 25-30% of the patients, the disorder occurs without a positive family history, and gene mutation is likely to be taken into consideration 3 . Most such severe cases appear to be due to sporadic mutation in a single germ cell of one parent. Many familial cases may have milder manifestations (for instance, mitral valve regurgitation is less frequent 4 ) and has better prognosis, but may be more difficult to detect during infancy 5 . The aortic root and arch diam- eters have been found to be significantly greater in patients with a family history than in those without such histories, and life expectancy has been found to be shorter 6 . The patient also presents with typical facial and oral features as in the following case. CASE REPORT A male patient of 27 yrs old came to our o.p with a chief complaint of painful decayed tooth in upper back tooth region for the past 4 days. Pain is moderate, continuous and dull. On general examination Patient was tall in stature, head appeared to be dolicocephalic ( fig.1). Arachnodactyly was assessed using ,walker Murdoch wrist sign(fig. 2).on extra oral examination drooping of eyelids,(fig.3)and retrognathic mandible was seen(fig.4).on intra oral examination high arched palate,crowding of teeth,supernumerary teeth(fig.5,6,7) was found. The patient was subjected to radiological investigation,(fig.8) opg revealed infected root stump in 17,periapical abscess in 13.on lateral ceph (fig9)malar hypoplasia TJPRC:International Journal of Cardiology, Echocardiography & Cardiovascular Medicine (TJPRC:IJCECM) Vol. 1, Issue 1 Jun 2015 1-6 © TJPRC Pvt. Ltd.
Transcript of MARFANS SYNDROME-A CASE REPORT - TJPRC: International …
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MARFANS SYNDROME-A CASE REPORT
MEENA, PRAVEENA, PRIYA & KRITHIKA & VIMAL
Department of Oral Medicine & Radiology, Thai Moogambigai Dental College & Hospital,
Chennai, Tamil Nadu, India
ABSTRACT
Marfan’s syndrome is a connective tissue disease inherited in an autosomal dominant manner and caused mainly
by mutations in the gene FBN1, with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary
connective tissue disorder affects many parts of the body1. The diagnosis of Marfan’s syndrome is established in
accordance with a review of the following diagnostic criteria, known as the Ghent nosology, through a comprehensive
assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the
family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular
malformations of Marfan’s syndrome. Here with we are discussing a case of a 27 years old man who presented with typical
features of Marfans syndrome.
KEYWORDS : Connective Tissue Disease, Marfans Syndrome, Aortic Root Dilatation
INTRODUCTION
This condition was first described in 1896, the French pediatrician antoine Bernard-Jean Marfan. It involves the
multi organ system like cardiovascular, skeletal and
Ocular systems, the integument, lungs and Dura. Marfan syndrome (MFS) is an autosomal dominant connective
tissue disorder. A family history of Marfan’s syndrome has been found to be present in 49% of the families of individuals
with this condition2. In about 25-30% of the patients, the disorder occurs without a positive family history, and gene
mutation is likely to be taken into consideration3. Most such severe cases appear to be due to sporadic mutation in a single
germ cell of one parent. Many familial cases may have milder manifestations (for instance, mitral valve regurgitation is
less frequent4) and has better prognosis, but may be more difficult to detect during infancy5. The aortic root and arch diam-
eters have been found to be significantly greater in patients with a family history than in those without such histories, and
life expectancy has been found to be shorter6. The patient also presents with typical facial and oral features as in the
following case.
CASE REPORT
A male patient of 27 yrs old came to our o.p with a chief complaint of painful decayed tooth in upper back tooth
region for the past 4 days. Pain is moderate, continuous and dull. On general examination Patient was tall in stature, head
appeared to be dolicocephalic ( fig.1). Arachnodactyly was assessed using ,walker Murdoch wrist sign(fig. 2).on extra oral
examination drooping of eyelids,(fig.3)and retrognathic mandible was seen(fig.4).on intra oral examination high arched
palate,crowding of teeth,supernumerary teeth(fig.5,6,7) was found. The patient was subjected to radiological
investigation,(fig.8) opg revealed infected root stump in 17,periapical abscess in 13.on lateral ceph (fig9)malar hypoplasia
TJPRC:International Journal of Cardiology, Echocardiography & Cardiovascular Medicine (TJPRC:IJCECM) Vol. 1, Issue 1 Jun 2015 1-6 © TJPRC Pvt. Ltd.
2 Meena, Praveena, Priya & Krithika& Vimal
www.tjprc.org [email protected]
was seen. On correlating the family history, the clinical features, oral findings and radiological investigations, the case was
provisionally diagnosed as Marfan syndrome.
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Marfans Syndrome-A Case Report 3
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4 Meena, Praveena, Priya & Krithika& Vimal
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DISCUSSIONS
Marfan syndrome is one of the most common potentially lethal diseases inherited in Mendelian fashion.
Characteristic features include progressive aortic dilatation associated with aortic valve incompetence, mitral valve
prolapse and incompetence lens dislocation and myopia, and a tall and thin body with long limbs, arachnodactyly, pectus
deformities and sometimes scoliosis7. The diagnosis of a genetic disorder in a family and the possibility of testing for the
disorder raise a number of issues. Involvement of genetics professionals (clinical geneticists and genetic councellors)
should be considered8. All family members potentially at risk should receive genetic counseling, life style modification
advice and appropriate counseling should be given to the patient. Several diseases of the connective tissue disorder like
Ehlers-Danlos syndrome, Shprintzen-Goldberg syndrome,Arterial tortuosity syndrome can be considered in the differential
diagnosis of marfans syndrome.some of the most complex diseases that show close resemblance to Marfans are MASS
Syndrome, Loeys-Dietz syndrome. Marfans is a rare hereditary connective tissue disorder which affects most parts of the
body, Ghent nosology is used to establish the diagnosis in cases of marfans syndrome. Cardiovascular complications like
aortic root dilatation and mitral valve prolapse are very common in marfans9,10 .The mortality can be reduced by oral
rehabilitation of the patient . Maintaining oral hygiene and palatal arch expansion can be carried out to improve the patients
dental status of the individual. Regular cardiovascular, ocular and skeletal check up by means of echocardiography, MRI
etc are highly recommended for the patients after the diagnosis of Marfans syndrome is established.
REFERRENCES
1. Haneline M, Lewkovich GN. A narrative review of pathophysiological mechanisms associated with cervical
artery dissection. J Can Chiropr Assoc. 2007;51(3):146-57.
2. Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic
dissection the only cause of sudden death? J Am Coll Cardiol. 2003;41(2):329-32.
3. Pahuja D. Marfan syndrome: diagnosis and workup of cardiac manifestations. The Internet Journal of Cardiology.
2006;3(1). Available from: http://www.ispub.com/journal/the_in-
ternet_journal_of_cardiology/volume_3_number_1_9/article/marfan_syndrome_diagno-
Marfans Syndrome-A Case Report 5
www.tjprc.org [email protected]
sis_and_workup_of_cardiac_manifestations.html. Accessed in 2010 (Sep 29).
4. Geva T, Hegesh J, Frand M. The clinical course and echocardiographic features of Marfan’s syndrome in
childhood. Am J Dis Child. 1987;141(11):1179-82.
5. Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of infantile marfan syndrome.
Pediatrics. 1990; 86(6):888-95
6. Silverman DI, Gray J, Roman MJ, et al. Family history of severe cardiovascular disease in Marfan syndrome is
associated with increased aortic diameter and decreased survival. J Am Coll Cardiol. 1995;26(4):1062-7.
7. Loeys BL et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476 -485.
8. Arslan-Kirchner, M. Arbustini, E. Boileau, C. et al. Clinical utility gene card for: Marfan syndrome type 1 and
related phenotypes [FBN1] European Journal of Human Genetics 2010.
9. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in
the fibrillin gene. Nature 1991;352:337–9.
10. Silverman D I, Burton K J, Gray J. et al Life expectancy in the Marfan syndrome. Am J
11. Cardiol199575157–160.160Study that documents improved survival of individuals with
12. Marfan syndrome.[PubMed.
