Rare genetic conditions such as Marfan syndrome should be considered in young patients presenting with acute heart failure without typical risk factors, and can be efficiently screened using the modified Ghent nosology.
Prompts consideration of Marfan syndrome in young adults with acute HF, severe MR, and aortic dilatation; leaves open generalizability beyond this case.
A 28-year-old visiting from Central America presented with twenty-four hours of lower extremity swelling, dyspnea and orthopnea. Clinically, she was diagnosed with acute heart failure requiring inotropes with a transthoracic echocardiogram revealing severe mitral regurgitation with a normal ejection fraction. Subsequent transesophageal echocardiogram confirmed severe mitral regurgitation with aortic root dilatation (Z-score: 3.9). She was also found to have arachnodactyly, scoliosis on X-ray and severe mitral valve prolapse. Given her clinical features she was assessed for Marfan syndrome with the modified Ghent nosology systemic score and met diagnostic criteria. A FBN1 genetic test confirmed the diagnosis of Marfan syndrome discovering a frameshift mutation resulting in an inappropriate stop codon and peptide truncation. For patients presenting with heart failure at an atypical age without typical risk factors, rare conditions such as Marfan syndrome should be considered. Marfan syndrome can accurately and quickly be screened for and diagnosed using the systemic score from the modified Ghent nosology.
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Hendren et al. (2016) studied this question.
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