Marfan Syndrome Presenting Research Articles

A Case of Marfan Syndrome Presenting as Tension Pneumothorax in A Tertiary Care Setup

Marfan Syndrome is a rare connective tissue condition that affects several systems, including musculoskeletal, cardiovascular and ocular systems. Although less frequent, pulmonary involvement can nevertheless lead to emphysema, bullae, apical blebs, and a higher risk of spontaneous pneumothorax. Another option is pectus excavatum, carinatum, or scoliosis-related restrictive lung disease. We will discuss a case of 18 year old girl, with marfanoid habitus, non-smoker with history of ATT taken on radiological grounds, with complains of shortness of breath on and off and presenting with sudden onset worsening of shortness of breath and dry cough for 3 weeks. Chest x-ray showed tension pneumothorax. After emergency management echo was done and it showed MVP with MR. Patient was diagnosed as a case of Marfan Syndrome following Ghent criteria. The case indicates that pneumothorax though rare can be first presentation of Marfan Syndrome.

Marfan Syndrome: an uncommon cause of heart failure with late presentation and management challenges in a Nigerian (case report)

Marfan syndrome is an autosomal dominant disorder with life-threatening cardiovascular complications. It is an uncommon cause of heart failure in our environment. We hereby highlight a case of Marfan syndrome presenting with heart failure, challenges of late presentation and management of Marfan syndrome in our environment. A 56-year-old man with a 4-year history of hypertension presented with 3 months history of exertional dyspnoea and orthopnoea. He had associated musculoskeletal abnormalities and reduced vision since childhood. No family history of Marfan syndrome. Examination revealed features of severe chronic aortic regurgitation, bilateral supero-nasally dislocated lenses, kyphoscoliosis, positive thumb and wrist signs. The resting electrocardiogram showed left ventricular hypertrophy with strain pattern. Ocular ultrasound confirmed bilateral ectopia lentis. Echocardiography revealed aortic root aneurysm, severe aortic regurgitation, left ventricular dilatation and reduced ejection fraction. The computed tomography (CT) aortogram revealed aortic root aneurysm, tortuous abdominal aorta, thoracolumbar scoliosis and pectus excavatum. Using revised Ghent's criteria, a diagnosis of Marfan syndrome in heart failure was made. Management was multidisciplinary with plans for aortic root replacement, family and genetic screening. He commenced beta blocker and angiotensin receptor blocker with symptomatic relief. He reportedly died at home after sudden onset tiredness. His management was hampered by late clinical presentation, difficulty assessing surgery and out of pocket health funding.

A Case Report of Marfan Syndrome Presenting With Atypical Chest Pain: A 28-Year-Old Male With Non-ST-Elevation Myocardial Infarction (NSTEMI)

Marfan syndrome is a rare autosomal dominant disorder of the connective tissue. It results in a mutation in the Fibrillin-1 protein gene. We present a case of Marfan’s syndrome in a young adult with life-threatening, sudden onset of chest pain secondary to a non-ST elevation myocardial infarction (NSTEMI) in the setting of an aortic pseudoaneurysm. Taking into consideration potential life-threatening underlying processes, a thorough and detailed methodology must be undertaken when encountering chest pain in a Marfan’s syndrome patient. This case highlights the importance of utilizing a multi-disciplinary approach to the complexities of Marfan syndrome.

1603 Abdominal Pain in a Patient With Marfan Syndrome

INTRODUCTION: Marfan syndrome is an inherited systemic disease affecting the aorta and multiple organ systems. Aortic dissection is the leading cause of mortality in Marfan syndrome. We describe a case of person well known to have Marfan syndrome, who had abdominal pain and diarrhea and eventually turned out to have type B aortic dissection. CASE DESCRIPTION/METHODS: This is a 33-year-old female known to have Marfan syndrome presenting with one week of dark diarrhea and nausea. Patient also had prior to presentation one day of crampy, sharp lower back and abdominal pain. CT scan abdomen and pelvis with IV and oral contrast done showed mild bowel wall thickening involving the ascending colon. Patient underwent EGD and colonoscopy were unremarkable. After the colonoscopy, she developed extreme abdominal pain in her lower quadrants radiating to the back. CT angiogram chest abdomen pelvis showed intact vasculature, but showed interval development of a moderate amount of new proteinaceous fluid seen within the pelvis, the hepatic and the splenic flexure. Patient underwent emergent open laparotomy for a concern of colonic perforation post colonoscopy. Patient was found to have partial bowel obstruction with a band of adhesion that came across the transverse colon. She underwent lysis of adhesions. Her abdominal persisted after the surgery, but was manageable with pain medications, so she was discharged home. Two days later, she presented with severe chest pain radiating to the back. Due to the high level of suspicion, she underwent CT angiogram chest abdomen pelvis showing aortic dissection arising just distal to the origin of the left subclavian artery and extending inferiorly along the abdominal aorta to the level of the right common iliac artery. Patient underwent emergent endovascular repair of the descending aortic dissection. Patient did well post operatively and was discharged home. DISCUSSION: Aortic dissection is a well known complication of Marfan syndrome, but only 10% of aortic dissections occur distal to the left subclavian. New abdominal pain in patients with Marfan should raise suspicion for aortic dissection, especially when the pain radiates to the back. Free fluid in the abdomen post colonoscopy should not be only seen as colonic perforation, but also a sign of vascular complication in patients with Marfan. Even when CT scan was negative a few days ago, repeating CT scans in the appropriate clinical setting can be life-saving.

Marfan syndrome presenting with diffuse emphysematous change of the lung

A 29-year-old never-smoking woman who had been diagnosed with Marfan syndrome at 9 years of age was admitted with persistent exertional dyspnoea. She had previously developed pneumothorax three times and...

Marfan syndrome presenting with abdominal aortic aneurysm during pregnancy

Methods We report a case of successfully performed Caesarean section followed by reconstruction of the abdominal aorta in a patient with Marfan syndrome.

Marfan's syndrome presenting as an ascending aortic dissection : A Case Study

Marfan's syndrome presenting as an ascending aortic dissection : A Case Study

Successful endovascular stent-graft treatment in a patient with Marfan syndrome presenting with complicated acute Type B dissection

Successful endovascular stent-graft treatment in a patient with Marfan syndrome presenting with complicated acute Type B dissection

Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome

The authors describe the case of a 12-year-old girl with Marfan syndrome, sacral dural ectasia, and tonsillar herniation, who presented with headache. Initially, it was hypothesized that the headaches were secondary to the tonsillar herniation, and the patient consequently underwent surgical decompression of the foramen magnum. Postoperatively, the patient's condition did not improve, and additional magnetic resonance (MR) imaging demonstrated evidence of a cerebrospinal fluid (CSF) leak at the level of the dural ectasia. It was surmised that the girl's symptoms were due to spontaneous intracranial hypotension (SIH) and that the tonsillar herniation was caused by the leakage. The patient responded well to application of a blood patch at the level of the demonstrated leak, and her headache resolved. This appears to be the first reported case of a patient with Marfan syndrome presenting with a symptomatic spontaneous CSF leak complicated by tonsillar herniation. In this rare association of SIH and connective tissue disorders, recognition of the clinical signs and typical MR imaging features of SIH may lead to more appropriate and less invasive treatment, potentially avoiding surgery.

Replacement of the Descending Thoracic Aorta for Massive Aneurysm in Neonatal Marfan Syndrome

We describe a patient with neonatal Marfan syndrome presenting with massive ascending and descending thoracic aortic aneurysm. Because of rapidly progressive respiratory distress due to tracheobronchial compression, emergency replacement of the descending thoracic aorta with a 12-mm PTFE vascular prosthesis was undertaken at 1 month of age. The postoperative course was complicated by bilateral tension pneumothorax contributing to irreversible respiratory failure. The unique clinico-pathological features and the relevant surgical implications of the case are discussed.

Marfan's Syndrome Presenting as a Type 3 Aortic Dissection

(2) Is the risk of proximal dissection high enough to warrant prophylactic repair before clinically significant aortic insufficiency occurs? (3) If surgery is not warranted now, what indication should be used to determine appropriate timing of surgery (ie, aortic regurgitation by clinical examination, symptomatic aortic regurgitation, signs of congestive heart failure)? (4) How common is a type 3 aortic dissection in Marfan’s syndrome? How does this affect overall survival?