This case study presents an innovative endovascular approach using percutaneous gluteal artery access for embolizing the false lumen of a type B aortic dissection in a patient with Marfan syndrome. Following multiple complex surgeries, the patient developed an enlarging thoraco-abdominal aneurysm, necessitating an urgent intervention branched endoprosthesis despite persisting false lumen perfusion. Doppler ultrasound-guided percutaneous gluteal access was utilized for spiral-coil embolization of the false lumen. Successful embolization and exclusion of the aneurism, confirmed by follow-up angiography and computed tomography scans, demonstrated the technique\'s efficacy and safety. This approach underscores the need for innovative solutions addressing complex vascular pathologies in patients with Marfan.

Marfan syndrome (MFS) is a rare hereditary connective tissue disorder with autosomal dominant inheritance associated with an increased risk of cardiovascular complications due to connective tissue fragility. Acute myocardial infarction during pregnancy is also a rare event associated with poor maternal and fetal outcomes. Herein, we report a case of a 30-year-old pregnant woman with a known history of MFS. The patient had been treated surgically for an ascending aorta aneurysm and mechanical prosthetic aortic valve repair. She presented at 12 weeks of gestation with severe chest pain, which proved to be acute myocardial infarction. This is believed to be the first case of this complex medical condition presented in the first trimester of pregnancy.

Microspherophakia is a rare congenital anomaly characterized by an abnormally small and spherical crystalline lens, which can be associated with several systemic syndromes. We present an extremely rare case of bilateral anteriorly displaced microspherophakia in a female child with Marfanoid habitus. The patient displayed phenotypic features resembling Marfan syndrome, including tall stature, muscle hypotonia, dolichostenomelia, and increased arm span than body length. However, unlike Marfan syndrome, Marfanoid habitus is not associated with mutations in the fibrillin-1 gene. The association between microspherophakia and Marfanoid habitus is a unique presentation that has not been reported in the literature. This case report aims to increase awareness of microspherophakia as a possible ocular association of Marfanoid habitus.

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder associated with the mutation of the FBN1 gene. Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders with similar clinical features to MFS that often requires genetic testing to confirm a diagnosis of an EDS subtype. MFS is diagnosed using the Ghent Nosology criteria, which screens for cardiovascular, musculoskeletal, integumentary, ocular, and pulmonary abnormalities. Though genetic testing has recently been increasingly emphasized in diagnosing MFS, it is not currently a mandatory component of the Ghent Nosology. We present the case of a nine-year-old male who presented with joint hypermobility of the shoulders, knees, and thumbs, and a family history of joint hypermobility in his 15-year-old brother. Genetic testing ruled out MFS, and the patient subsequently underwent testing for EDS, which further ruled out classical and hypermobile EDS. This case highlights the importance of supplementing the Ghent Nosology criteria with genetic testing in diagnosing MFS because it can aid in generating a differential diagnosis and optimizing diagnostic accuracy.

Camptodactyly is a genetic disorder that causes fixed flexion deformity of one or more fingers of single or both hands. It is very rare and the occurrence is very low amongst the children. It is linked to a handful of congenital connective tissue syndromes. It is passed onto generations with reduced expressivity. However, its association with benign joint hypermobility syndrome is rarely known. Joint hypermobility syndrome is a condition where there is extreme joint flexibility and it is related to a set of articular and extra-articular sequelae. We herein report a case of camptodactyly with benign joint hypermobility syndrome in a patient presenting with fixed flexion deformity of the fingers, joint hyperextensibility, and striae.

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.

Colonoscopies have reduced colorectal cancer (CRC) burden in the United States, and their utility has expanded to include various diagnostic and therapeutic indications. Complications are seen in up to 1% and increase with age and polypectomy. As colonoscopies become widespread, specific populations seem to be at a much higher risk; notably patients with heritable connective tissue disorders (HCTD). As life expectancy increases, these patients undergo routine screenings and require careful peri-endoscopic care to reduce adverse outcomes. Amongst HCTD, Ehlers-Danlos syndrome (EDS) is commonly implicated, however, no reports of Marfan syndrome (MS) exist. We present a unique case of splenic injury after colonoscopy in a patient with MS. Successful outcomes require early suspicion and emergent surgical evaluation in patients with hemodynamic instability after a colonoscopy. Increased ligament laxity and bowel fragility are the most likely mechanisms. Alternative CRC strategies like fecal immunochemical test (FIT), fecal occult, Cologuard, or virtual colonography can be considered.

There are few literatures highlighting the presence of a mycotic aneurysm in the setting of bloodstream infection by Serratia. A 33-year-old male with a history of Marfan syndrome, mitral valve prolapse, and intravenous drug use (IVDU) presented to the ED with fever, nausea, and non-bloody emesis, and vague abdominal pain with concern for sepsis. With the strong association between IVDU and infective endocarditis, transthoracic and transesophageal echocardiograms were performed and were negative for vegetations. Abdominal CT and positron emission tomography (PET) scan were performed and revealed thrombosis at the first jejunal branch of the superior mesenteric artery (SMA), left renal pole infarct, and superior splenic pole infarct. Following CT angiography for potential thrombolysis, aneurysmal formation was discovered proximal to the filling defect within mid-SMA. Blood cultures drawn at presentation grew Serratia marcescens. The patient was treated with appropriate antibiotic, and recommended indefinite anticoagulation. The patient was then recommended to follow up with vascular surgery within two weeks for repeat abdominal CT angiogram.

We report the follow-up of a 29-year old female patient with Marfan disease described in another Journal when she suffered a Kommerell diverticulum (KD) dissection and underwent hybrid repair. She presented to us 2 years later with type I proximal endoleak, enlarging KD and descending thoracic aorta dissection, suffered from left ventricular dysfunction and prosthetic aortic valve stenosis. Definitive treatment included dismantlement of previous repairs and anatomical reconstruction.

This chapter will provide a practical look at the rapidly evolving field regarding the genetics of thoracic aortic aneurysm. It will start with a look at the history of the genetics of thoracic aortic aneurysm and will then move on to elucidating the discovery of familial patterns of thoracic aortic aneurysm. We will next review the Mendelian genetics of transmission of thoracic aortic aneurysm. We will move on to the molecular genetics at the DNA level and finish with a discussion of the molecular genetics at the RNA level, including a promising investigational \"RNA Signature\" test that we have been developing at Yale.