Patient: [Patient Name]
MRN: [Medical Record Number]
Date: [Date of Encounter]
Chief Complaint:
Follow-up for Marfan syndrome / New or worsening symptoms suggestive of Marfan syndrome (specify)
(e.g., chest pain, shortness of breath, joint pain, vision problems)
History of Present Illness:
For follow-up visits, inquire about any new or worsening symptoms since the last encounter.
Describe the character, duration, and severity of new symptoms.
Mention any recent changes in medications, lifestyle habits, or exposures that may affect Marfan syndrome (e.g., new medications, weight changes, injury).
Past Medical History:
Date of Marfan syndrome diagnosis and the underlying cause (if known):
Familial (positive family history)
Sporadic (no family history)
Specific Marfan syndrome features present (e.g., aortic root dilation, mitral valve prolapse, ectopic lens dislocation)
Past surgeries related to Marfan syndrome (e.g., aortic valve replacement, aortic root replacement)
Other relevant medical history (e.g., chronic pain, lung complications)
Medications:
List all current medications, including any medications for Marfan syndrome management (e.g., beta-blockers, angiotensin receptor blockers).
Social History:
Inquire about tobacco use (can worsen aortic health).
Ask about participation in competitive sports (contraindicated in some Marfan cases).
Family History:
Presence of Marfan syndrome or related connective tissue disorders in first-degree relatives.
Physical Exam:
General observation: Assess for signs of:
Tall stature with disproportionately long limbs (arachnodactyly)
Pectus excavatum (chest wall deformity) or pectus carinatum (chest wall protrusion)
Scoliosis (curvature of the spine)
Hyperextensible joints
Cardiovascular exam: Listen for heart murmurs suggestive of mitral valve prolapse.
Ophthalmologic exam (if not done recently): Consider referral for slit-lamp examination to assess for lens dislocation.
Laboratory Tests:
Not routinely required for Marfan syndrome diagnosis, but may be indicated based on specific concerns (e.g., CBC for anemia if fatigue is a concern).
Imaging Studies (as indicated):
Echocardiogram: The primary imaging study to assess aortic root size, mitral valve function, and other cardiac abnormalities.
Chest X-ray: May reveal signs of scoliosis or pectus abnormalities.
Aortic MRI or CT scan: May be used for more detailed evaluation of the aorta, especially if echocardiogram findings are concerning.
Slit-lamp examination: Performed by an ophthalmologist to assess for lens dislocation.
Assessment:
Marfan syndrome status: Confirm or rule out Marfan syndrome based on clinical presentation, family history, and imaging findings.
Specific features present: List the specific features of Marfan syndrome identified in the patient (e.g., aortic root diameter, mitral valve prolapse severity).
Cardiovascular risk assessment: Evaluate the risk of aortic complications based on aortic root diameter and other factors.
Plan:
Treatment:
Medical management with beta-blockers or angiotensin receptor blockers to slow aortic root growth and prevent complications.
Lifestyle modifications (avoidance of strenuous activities, smoking cessation).
Referral for genetic counseling if not already completed.
Consideration of prophylactic aortic surgery if aortic root diameter reaches a certain threshold.
Management of other Marfan syndrome features (e.g., mitral valve prolapse, scoliosis).
Monitoring: Schedule regular follow-up visits with physical exams, echocardiograms, and potentially other imaging studies as needed to monitor disease progression and treatment response.
Education: Educate the patient about Marfan syndrome, inheritance patterns, importance of compliance with medications and lifestyle modifications, and the need for regular follow-up. Provide resources for support groups or patient advocacy organizations.
Disclaimer: This template is for informational purposes only and should be adapted to the specific needs of each patient. Marfan syndrome is a complex genetic disorder requiring lifelong management by a healthcare professional familiar with the condition. It is recommended to consult with relevant medical resources and Marfan syndrome management guidelines for comprehensive care planning.