Marfan Syndrome with Quadricuspid Aortic Valve

Abstract Marfan syndrome is commonly associated with cardiovascular abnormalities such as aortic root dilatation, aneurysm, dissection, mitral valve prolapse, and pulmonary artery dilatation. However, its association with a quadricuspid aortic valve (QAV) is exceedingly rare. To the best of our knowledge, only one such case has been reported in the literature – by Karagöz et al. in Turkey, 2007 – describing a similar anatomical variant in a patient with Marfan syndrome. Our case contributes to this extremely limited body of literature and represents the first such case reported from India. It highlights the importance of detailed imaging and clinical correlation in patients with connective tissue disorders. QAV is a rare congenital anomaly, with approximately 200 cases reported globally. The most widely used classification was proposed by Hurwitz and Roberts, which divides QAV into seven morphological types based on cusp size variation. The most common functional abnormality associated with QAV is pure aortic regurgitation (AR), observed in 74.7% of cases. In contrast, aortic stenosis (AS) is rare (0.7%), whereas combined AR and AS is seen in about 8.4% of cases. QAV can be accurately diagnosed using advanced echocardiographic techniques, including transesophageal echocardiography, which provides superior visualization of valve morphology. Aortic dimensions are usually interpreted using nomograms and Z-scores derived from large echocardiographic studies of normal children and adults. We report a rare case of a male patient with phenotypic features of Marfan syndrome, who presented with fever and anemia and was incidentally found to have a QAV on transthoracic echocardiography. This case highlights a potentially novel association between two rare conditions and emphasizes the need for meticulous echocardiographic evaluation in syndromic patients presenting with cardiac manifestations.