Introduction: Marfan syndrome is an autosomal dominant disorder of connective tissue that results from abnormal fibrillin-1. It is caused by a mutation in the FBN1 gene making it a multisystemic disease. It is the most common but may have overlap with other thoracic aortic syndromes. It is primarily diagnosed using the 2010 revised Ghent nosology criteria that rely on the presence of family history, progressive aortic root dilatation or dissection, ectopia lentis, genetic testing, and systemic features. Unfortunately, a lack of nationwide awareness, family history, and medical access may lead to delayed diagnosis and treatment in our setting.

Case Summary: We report 4 cases of Marfan Syndrome from May to October 2019, which were seen at our institution. They presented with either recently diagnosed aortic aneurysm, dissection, or severe heart failure. We used the Revised Ghent Nosology for diagnosis and treated them with the standard of care. However, outcomes were different across patients.

Discussion: The life expectancy is comparable to the general population If early diagnosis is achieved. A myriad of known cardiovascular complications can manifest from severe valvular heart disease secondary to mitral valve prolapse, aortic root dilatation, and, most commonly, aortic dissection.

Conclusion: A late diagnosis presenting as aortic dissection or severe valvular heart disease may have a poor quality of life and prognosis. A thoracic aortic syndrome, most commonly Marfan, should still be considered in patients with aortic criterion and premature aortic syndrome even if a systemic score of 7 is not fulfilled. The screening of first-degree relatives of affected patients is an effective strategy to diagnose them at an early stage where they are still asymptomatic.

Marfan Case Series ; Premature Aortic Disease ; Thoracic Aortic Syndromes