Mitral valve replacement in a 12 year old boy with Marfan syndrome and severe mitral regurgitation

A 12 year old boy with Marfan syndrome associated with severe mitral regurgitation underwent successful mitral valve replacement. Careful evaluation of the cardiovascular system and specific surgical intervention help long-term survival of  patients.


Introduction
The cardiac, ocular and skeletal system of our body are commonly affect in Marfan syndrome of which cardiac manifestation is the most serious that reduces the life expectancy.It usually involves the aorta 1 and manifests as the dilatation of aortic root with or without aortic valve, aortic dissection, aortic aneurysm or aortic rupture, thus endanger the life. 2 Isolated mitral valve involvement is rare. 3It may or may not have positive family history. 4In mitral valve involvement, the leaflets may be prolapsed or thicken that cause regurgitation of blood to the left atrium, 5 mitral regurgitation and associated with symptoms.It may also cause left ventricular hypertrophy and left atrial dilatation. 5, 6Mostly it occurs in childhood. 7Early evaluation of valve morphology and effective surgical intervention can exhibits the long-term expectancy of life.
The skeleton as well as the ocular manifestation are also helpful for diagnosis of Marfan syndrome patient.Skeletal disorders are the most common and earliest to detect. 8They are progressive with age and are completed in adolescence.The skeletal feature typically encompasses with abnormally long finger, limbs are relative long to trunk length, the sternum either elevated or depressed, thoracolumbar scoliosis. 9On examination of the eye, the mention findings myopia, cataract, retinal detachment and superior dislocation of the lens are also suggestive of Marfan syndrome. 10 an autosomal dominant condition Marfan syndrome affects multisystem of our body as a consequence of point mutation of FBN1 gene which is encoding for fibrillin-1 and is located on chromosome 15q21 8 with a prevalence of approximately 1 per 5,000 population 4 and 26% of the cases have no family history. 5,6 ere is no geographic, ethnic or gender predilection. 9

Case Report
A 12 year old boy presented with shortness of breath on exertion, palpitation and undue fatigue for 1 year.Symptoms were gradual in onset then progressive.At presentation, he was found dyspnoeic.He had progressive loss of vision since childhood and diminishing vision was also compromising his quality of life.He was the tallest member of his family.His grandfather also had similar phenotypic characteristics and died of heart disease at 55 years of age.
Physical examination revealed him to be a tall thin person with abnormally thin and long face with disproportionately long limbs compared to the trunk with long tapering fingers and hammer toes.His height was 178 cm (upper half of body 77 cm and lower half 101 cm) and a reduced upper to lower segment ratio (0.76).His arm span was more than height (178 cm) and arm span to height ratio was 1. Chest deformity was present in the form of pectus excavatum with decreased thorax expansion.Wrist (walker's) sign (Figure 1) and Thumb sign (Figure 2) was positive.He also had high arched palate and pes planus.Ocular examination revealed inferotemporal dislocation of both lens.
The patient was tachypnoeic with respiratory rate of 26/min.Pulse was 90/min in radial artery and blood pressure was 100/60 mm of Hg.On cardiovascular examination, apex beat was visible, palpable and displaced outside the

Abstract
A 12 year old boy with Marfan syndrome associated with severe mitral regurgitation underwent successful mitral valve replacement.Careful evaluation of the cardiovascular system and specific surgical intervention help long-term survival of patients.left midclavicular line. 1 st heart sound was soft. 2 nd heart sound was normal.Pansystolic murmur was best heard over the mitral area with radiation towards the left axilla.Auscultatory findings were suggestive of mitral regurgitation.Chest X-ray showed cardiomegaly.ECG reveals biventricular hypertrophy.Echocardiography show -ed severe mitral regurgitation grade 4, thickened AML and PML with prolapsed AML, dilatation of all cardiac chambers, hugely dilated left atrium and left ventricle, mild tricuspid regurgitation with mild pulmonary hypertension, mild pulmonary regurgitation and EF 55%.Histopathology showed thickened fibrous tissue with areas of myxomatous degeneration.
The phenotypic characteristics, clinical findings and investigation report were consistent with Marfan syndrome with mitral regargitation.
Per-operative showed floppy mitral valve (Figure 3) and he underwent mitral valve replacement with 31 mm Saint Judes mechanical bileaflet valve under cardiopulmonary bypass, cross clamp time was 60 min and extracorporeal circulation time was 90 min.He was discharged with satisfactory hemodynamic condition on 12 th postoperative day and subsequent follow-up at one month and three months revealed satisfactory hemodynamic and cardiac performance.

Discussion
This patient with Marfan syndrome have tall and thin body condition, he also present long extremities that are disproportionate to the trunk.The fingers and toes of this patient are characteristically long of which the fingers can be wrapped completely around the opposite wrist and frequently overlapping (positive Walker's sign) and when the thumb enclosed within the clenched fist it protrudes beyond the ulnar border (positive Steinberg sign) 11 this phenotypic feature was suggestive for diagnosis of the patient.
Cardiovascular involvement determine the prognosis of Marfan syndrome, since they cause the highest mortality near about 70-95% of cases. 12Progressive shortness of breath on exertion and palpitation were cardiac manifestations of this patient.It was due to mitral valve prolapsed.It's incidence depends on the age 40-80% in children.
In a study it has been estimated that only 0.25% of patients with mitral valve prolapsed have Marfan syndrome. 13The most common complication is mitral valve prolapsed that result in severe regurgitation as well as left atrial and ventricular dilatation due to progressive degeneration of the valve and chorde, with myxomatous infiltration.Bacterial endocarditis and sudden death may also occur due to severe mitral regargitation or mitral valve prolapsed.Primary mitral valve surgery is currently performed most frequently to specifically treat mitral valve prolapsed.Surgical treatment for the floppy mitral valve abnormalities comprises repair or replacement of the valve.
Ocular involvement is common (70%) and progressive. 14On eye examination, this patient present unable to see the distal objects with occasionally double vision which is more specific due to inferotemporal sublaxation of lens and the refractive errors was corrected accordingly to preserve the maximum visual function.

Conclusion
Early evaluation of the cardiovascular system, regular valvular monitoring, initiation of medical therapy as well as mitral valve replacement can improve and extend the lives of many patients of Marfan syndrome with mitral regargitation.