Blood pressure was 160/100 mmHg, the pulse was 110 beats per minute, with a regular rhythm and a collapsing character. The patient had a temperature of 37.8 and was slightly tachypneic with a respiratory rate if 22 breaths per minute.

Closer examination of the hands showed Characteristic Marfan bony changes, in which wrist and thumb signs were noted as well as chest x ray showed mild pectus excavatum.

Fig 3: A thumb flexed across the palm that extends deyond the ulnar side of the hand suggests hyperextensibility of the small joints

The patient suffered from a high arched palate but no dental abnormalities were present.

Fig 4: High arched palate

During Echo a grade four early diastolic murmur was heard over the tricuspid and aortic areas, but it was with a greater intensity over the tricuspid region. S1 and S2 were both audible, however S2 was louder. On percussion and auscultation of the back, right basal crackles were heard with dullness over the right lower lobe of the lung. Examination of the abdomen showed visible pulsation above the umbilicus, and stretch marks. There was no venous distension, organomegaly, cyanosis, or ascites. Peripheral pulses were felt, and no edema was detected in the lower limbs.

On systematic review, no abnormalities were found other than the patient’s presenting symptoms, with blurring of vision and some mild joint pain at the knees. Regular tests were first carried out, such as CBC and X rays.

Echo showed a severe aortic regurgitation, a mild mitral prolapse with a minor mitral regurgitation and a trivial pulmonary regurgitation. A severe dilatation of the aorta (6.8 cm) and sinus of valsalva (6.6 cm) with a type (A) dissection flap of the ascending aorta were seen.

CT was also done and showed a very large aneurysm affecting the ascending thoracic aorta starting at the level of the aortic valve and terminating just proximal to the arch, measuring approximately 9x7cm in maximum dimension. The dissection was shown to be starting very low at the level of the valve and involving the entire aneurismal aorta, preserving the arch. There was no involvement of the arch or the major vessels arising from the arch. The remainder of the thoracic aorta including the arch, the descending thoracic aorta and also the abdominal aorta were all normal in caliber with no evidence of dissection. The iliac arteries were within normal limits. No CT evidence of aortic rupture was shown. A gross cardiomegaly was also visible.

According to patient her father also having the same features, but not consulted any physician. Mrs. Bhavya is married and having three children. No history of any other medical or surgical illness in her family. As all the symptoms were newly diagnosed patient was not ready accept her condition. After patient and family counseling patient was started with beta blockers and patient was discharged on 10^th day by advising her to come for regular follow-ups.

DISCUSSION:

Pathophysiology and Etiology:

Fibrillin is an important component of the microfibrillar system that acts as a scaffold for elastogenisis. Classical Marfan syndrome is associated with a mutation in FBN1, the gene that encodes for fibrillin-1. The pathophysiological outcomes of the degeneration of elastic fibers in Marfan syndrome seem to explain the majority of manifestations of this condition. Stiffness and reduced distensibility of the aorta in response to increased pulse pressure, is the main most important consequence of elastin degeneration.⁵ Recently, another hypothesis has emerged trying to explain the pathophysiology behind Marfan syndrome. Transforming growth factor β (TGFβ), a cytokine that regulates cell morphogenesis, is thought to contribute to the Marfan syndrome phenotype. Abnormal fibrillin causes failure of the sequestration of the inactive latent precursor of TGFβ, resulting in excessive TGFβ activation, and thus producing the phonotypical manifestations of Marfan’s.⁴

Clinical Presentation:

Marfan syndrome primarily involves the skeletal, ocular and cardiovascular systems. Typically patients with Marfan syndrome present with tall stature, ectopia lentis, aortic root dilatation, and positive family history. This patient presented with all the mentioned symptoms.

Management:

The major goal in management of patients with Marfan Syndrome is to prevent life threatening complications through early diagnosis and treatment. While there is no cure for the disorder, careful management can improve the prognosis and lengthen the life span. Ideally,those with Marfan Syndrome should be treated by a physician familiar with the condition and its effects on all body systems.

An annual echo is needed to monitor the size and function of the aorta. To reduce stress on the aorta and lower blood pressure β blockers may be appropriate.

Although clinical management of genetic disorders is not backed up by extensive clinical trials on humans, numerous studies conducted in vivo managed to establish a direct link between the administration of angiotensin receptor blockers (ARBs) and the inhibition of TFGβ signaling.⁴Various retrospective studies have assessed the beneficial effects of beta blockers (BB) therapy in Marfan syndrome, and considered it to be the standard of care.All Marfan syndrome patients who can tolerate beta blockers should be treated regardless of the presence or absence of aortic dilatation. No randomized trials reported solid evidence on the use of angiotensin converting enzyme inhibitors (ACEI), however this class of drugs has the theoretical advantage of reducing the ejection impulse and vascular smooth muscle apoptosis which is implicated in cystic medial degeneration.⁵

Annual evaluation of the skeletal system including monitoring abnormal curvatures of the spine and chest are recommended.Initial eye examination with a slit lamp to detect lens dislocation and periodic follow ups are advisable.

Recent trials have been aiming to manufacture drugs that are directed at the fibrillin-1 or TGFβ axis to produce the maximum desirable effect.⁷ Many comparative studies have shown that there is a better outcome with early aortic root surgery than with an emergency or later surgery. Prophylactic surgery is recommended when the diameter at the sinus of Valsalva exceeds 5.5 cm in adults.

Life style adaptations such as avoiding strenuous exercise are necessary to avoid deleterious effects of increased blood pressure on the diseased aorta.

CONCLUSION:

Marfan syndrome is the most common inherited connective tissue disorder with diverse clinical manifestations. Although many studies have been conducted which aimed at improving the medical aspect of management, those trials produced conflicting results and generally involved relatively few patients. This report underscores the importance of detailed family history and physical examination in the diagnosis of Marfan syndrome. Additionally, good insight about the pathogenesis and the clinical presentation of Marfan syndrome improve the effectiveness of medical therapies.

ACKNOWLEDGMENT:

Many thanks to the patient, Medicine V unit team of JSS hospital and special thanks to the MSc Nursing students who were actively involved in taking care of this patient.

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4. Lacro RV, Dietz HC, Wruck LM, Bradley TJ, et al. Rationale and Design of a Randomized Clinical Trial of Beta Blocker Therapy (Atenolol) vs. Angiotensin II Receptor Blocker Therapy (Losartan) in Individuals with Marfan Syndrome. Am Heart J. 2007 October; 154(4):624–631.

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Received on 30.12.2013 Modified on 01.02.2014

Asian J. Nur. Edu. & Research 4(2): April- June 2014; Page 203-206