Lock It In
The Cardiovascular Priority
Marfan syndrome is an inherited connective tissue disorder caused most often by a pathogenic variant in FBN1 , the gene that encodes fibrillin 1.
Marfan syndrome is an inherited connective tissue disorder caused most often by a pathogenic variant in FBN1, the gene that encodes fibrillin-1. Its physical clues may be striking—a tall, slender habitus, long fingers, pectus deformity, or scoliosis—but the finding that drives nursing priority is usually less visible: progressive enlargement of the aortic root. The aortic root can enlarge silently for years. As the wall stretches, the risk of aortic dissection or rupture increases. A dissection may begin with sudden severe chest or back pain, but it can also present with syncope, neurologic deficits, pulse differences, acute aortic regurgitation, or organ malperfusion. A patient with Marfan syndrome and a new high-risk symptom is not a routine pain-assessment case. Mitral valve prolapse and mitral regurgitation are also common. They may produce a murmur, palpitations, exertional dyspnea, or eventually heart failure. These complications matter, but sudden symptoms suggesting acute aortic syndrome take priority over chronic skeletal or valvular findings.