Marfan Syndrome Correct diagnosis can save lives

Marfan syndrome is a heritable disorder of the connective tissue that affects many systems of the body. However, the most serious complication in patients with Marfan syndrome is progressive enlargement of the aortic root, which may lead to aortic dissection, rupture, or aortic regurgitation. Prevention of these life threatening complications is very important in the management of this condition. A 39-year-old Omani man presented with progressive shortness of breath and eventually underwent major but successful cardiac surgery. It is very important to recognise Marfan syndrome early as preventive actions are possible if the condition is diagnosed before complications occur.

unknown causes before reaching their first year of life and his mother had died suddenly at the age of 64.His maternal uncle had died suddenly at age 25.
The patient is the father of three children.He had no family history of hypertension, diabetes, heart disease, or any known inherited disorder.
On examination, the patient's respiratory rate was 24 breaths per minute with a collapsing pulse and a rate of 80 beats per minute.His blood pressure was 115/60 mmHg and oxygen saturation was 97%.He had a height of 182 cm and an arm span of 194 cm, giving him an arm span to height ratio of 1.06.He had hypermobile joints, a positive thumb sign, and a high arched palate with some element of teeth crowding.The patient had a pectus carinatum deformity and auscultation of the lungs revealed bilateral basal crepitations.A cardiovascular examination revealed a displaced heaving apex, dual heart sounds with palpable pulsation at the right parasternal area, a mid-systolic murmur and a Grade 3-4/6 early diastolic murmur which was best heard at the right sternal area radiating to the carotid.He had no pedal oedema.
An electrocardiogram (ECG) displayed a sinus rhythm with a heart rate of 80 beats per minute, but no other significant abnormality.A chest X-ray [Figure 1] showed mediastinal widening and cardiomegaly with interstitial pulmonary oedema.A troponin I assay was negative.He was assessed by the cardiologist on call.Left ventricular failure was suspected at that stage and intravenous furosemide was administered to the patient which led to significant improvement; therefore, he was discharged home on furosemide and carvedilol.Four weeks later, a transthoracic echocardiogram (TTE) was performed which showed a severely dilated left ventricle, severe aortic regurgitation, a dilated aortic root, and an ascending aorta (82 mm) with aortic dissection extending from the root to the ascending aorta.The patient was immediately sent for a contrast enhanced computed tomography (CT) of the chest.It demonstrated a large aneurysm of the ascending aorta measuring 9.9 x 9 cm with dissection and minimal pericardial effusion [Figures 2 and 3].The aortic arch and descending aorta were both normal.As a result, the patient was urgently   referred for surgical intervention.He underwent a Bentall procedure that involved a composite graft replacement of the aortic valve, aortic root, and ascending aorta, with re-implantation of the coronary arteries into the graft.The patient recovered well from this major surgery with significant improvement of his symptoms.A postoperative chest X-ray also showed a remarkable improvement [Figure 4].The patient was discharged on the seventh postoperative day.
Following surgery, the patient was examined by an ophthalmologist.He was found to have myopia of -2.5 diopters but had no signs of ectopia lentis or any other ocular features of Marfan syndrome.Screening of other family members was arranged and two of his children, aged 4 and 5 years, were found to have Marfanoid features along with aortic root dilatation on echo; they are currently being treated by a paediatric cardiologist.

Discussion
Marfan syndrome deserves particular attention by primary care physicians for two reasons.First, primary care is considered a patient's first portal of entry into the health care system.Second, there are helpful clinical clues that make it a screenable condition for primary care physicians.4] They employs a set of major and minor manifestations in numerous tissues, including the skeletal, ocular, cardiovascular, and pulmonary systems, and the dura, skin and integument.Diagnosis is made if major criteria are identified in at least two different organ systems, and if there is involvement of a third organ system with either a major or minor manifestation.4] Any doubt in the clinician's assessment warrants further diagnostic evaluation.] It is incumbent on the physicians who encounter these patients to emphasise preventive measures.These include periodic imaging of the aorta in order to evaluate its size and the progression of aortic enlargement; early administration of beta blockers mainly to delay aortic root enlargement, and prophylactic surgical repair when there is a high risk of dissection, rupture, or serious aortic regurgitation due to aortic dilatation. 7[9][10][11] Initially, a biannual TTE is recommended to determine the rate of aortic dilation; thereafter, an annual TTE is recommended if aortic size remains stable.In instances of aortic dilatation of more than 45 mm, more frequent imaging of the aorta should be considered as rapid increase in size portends an increased risk of dissection. 10Owing to these preventive measures, life expectancy has improved considerably. 6,12tients diagnosed with Marfan syndrome should have appropriate counselling before choosing a career.Physically demanding jobs should be avoided.These patients should also be cautioned against participating in high intensity exercise, particularly isometric exercises.Instead, they should be encouraged to participate in lower intensity dynamic exercise. 13It is important for primary health care providers to be aware of the current recommendations related to physical activity in these patients. 14ur case illustrates the importance of making a correct diagnosis of Marfan syndrome.The initial assessment should include a comprehensive medical history that includes a personal and family history of cardiovascular disease.Clinical assessment should include recognition of the physical stigmata of Marfan syndrome, an eye examination, and a TTE.

The Ghent criteria [Table
The primary care physician can play a crucial role in the early detection of this syndrome and is also important in facilitating a multi-disciplinary approach through coordination of care with other health care professionals.In addition, the primary health care provider should be aware of the availability of pharmacological means to prevent or delay aortic dilatation.

Conclusion
It is very important to recognise Marfan syndrome early.Despite the morbidity and mortality associated with Marfan syndrome, early medical and surgical management can improve the life expectancy of many patients.Advancing research holds the promise of further improvements.This case illustrates the importance of obtaining a complete family history, and the value of clinical correlation while assessing patients with unusual physical findings.Early diagnosis of this disease by physicians will help in initiating treatment and appropriate management, including patient education and genetic counselling, and will provide an opportunity for family screening.departments who contributed to the care of this patient.

Figure 1 :
Figure 1: Frontal chest X-ray showing mediastinal widening (top arrow) and dilatation of the ascending aorta (middle arrow) with signs of heart failure (bottom arrow).

Figure 2 :
Figure 2: Axial computed tomography (CT) image through ascending (AA) and descending (DA) thoracic aorta showing the aneurysmal dilatation of the ascending aorta (top-right arrow) with intimal flap (type A dissection, top-left arrow) and pericardial effusion (middle arrow).Compare the diameter of ascending aorta with descending aorta (bottom arrow).

Figure 3 :
Figure 3: Coronal reformat of the same computed tomography (CT) chest scan showing the extent of the aneurysmal dilatation of the ascending aorta as well as the dissection (both arrows).
i n f o r m e d c o n s e n t Informed consent was obtained from the patient to publish this case report.a c k n o w l e d g e m e n tThe authors would like to thank all SQUH

Table 1 :
Major and minor Ghent criteria for the diagnosis of Marfan syndrome Source: Ades L. CSANZ Cardiovascular Genetics Working Group.Guidelines for the diagnosis and management of Marfan syndrome. 3* = Positive thumb sign: entire thumbnail protrudes beyond ulnar border of clenched fist; ¶ = Positive wrist sign: thumb and fifth digit overlap when encircling the wrist.