Q87.40
Marfan syndrome, unspecified
Clinical Classification Guidelines
Medical Intelligence & Overview
Marfan syndrome is a genetic condition that impacts the body’s connective tissue, which provides support and structure to various organs and tissues. The syndrome can affect many parts of the body, including the heart, eyes, bones, and blood vessels. When the specific type is not identified, it is classified as Marfan syndrome, unspecified (ICD-10 Code: Q87.40). While the severity varies among individuals, early recognition and management are crucial to prevent complications, especially those related to the cardiovascular system.
Causes & Symptoms
Clinical Causes: Marfan syndrome is caused by mutations in the FBN1 gene, which encodes a protein called fibrillin-1 that is essential for the elasticity and strength of connective tissue. Inherited in an autosomal dominant pattern, meaning only one copy of the altered gene can cause the disorder. In some cases, the mutation occurs spontaneously without a family history, known as a de novo mutation.
Key Symptoms: Long, slender limbs and fingers (arachnodactyly) Disproportionately tall stature with a slim build Flexible joints and flat feet Chest deformities such as pectus excavatum (sunken chest) or pectus carinatum (pigeon chest) Eye problems including nearsightedness, lens dislocation, or early-onset glaucoma Weakness in the heart's aortic wall, which may lead to dilation or aneurysm Scoliosis or other spinal deformities High arched palate and dental crowding Stretch marks on the skin that are not related to weight changes
Diagnostic & Treatment
Diagnosis Path: Diagnosis of Marfan syndrome involves a combination of medical history, physical examination, and various diagnostic tests:
Treatment Protocols: While there is no cure for Marfan syndrome, treatment aims to manage symptoms and prevent complications:
Clinical Advice & FAQs
Billing Guidance
Is Q87.40 a billable ICD-10 code?
Yes, Q87.40 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report Q87.40?
Clinical documentation must specify the nature of Marfan syndrome, unspecified and any associated comorbidities for accurate reporting.
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