This page is part of the MII Implementation Guide Seltene Erkrankungen (v2027.0.0-ballot: 2027 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

Case Example Marfan Syndrome

Overview

This document contains the semantic annotations for a case example of Marfan syndrome in a 19-year-old male patient.

Timeline

1. Ophthalmological presentation (2024-10-15)

• Reason: cataract consultation
• Finding: bilateral cataract
• Setting: outpatient
• Further procedure: surgery planning

2. Cataract surgery (2024-11-12)

• Procedure: phacoemulsification with lens implantation
• Setting: outpatient/day clinic
• Complications: none
• Finding: successful lens implantation

3. First cardiological presentation (2024-12-15)

• Reason for referral: chest pain, suspected Marfan syndrome
• Diagnosis: Marfan syndrome confirmed
• Findings:
  • Aortic root dilatation (48 mm)
  • Aortic valve regurgitation grade II
  • Mitral valve regurgitation grade I
• Therapy: losartan 50 mg once daily initiated

4. Planned aortic root replacement surgery (2025-03-15)

• Procedure: composite graft implantation (David procedure)
• Setting: inpatient, planned
• Indication: progressive aortic root dilatation in Marfan syndrome

Semantic annotations

Patient

• Sex: male
• Date of birth: ~2005 (19 years old)
• Body height: 2.13 m (pathologically increased)
• Characteristics:
  • Leg length discrepancy (right shortened)
  • Marfanoid habitus

Phenotypic features

Skeletal manifestations

1. Tall stature:
   • HPO: HP:0000098 "Tall stature"
   • Value: 2.13 m
   • Percentile: >99th percentile
2. Leg length discrepancy:
   • HPO: HP:0100559 "Lower limb asymmetry"
   • Description: right leg shortened
   • SNOMED CT: 707738004 "Leg length discrepancy"

Cardiovascular manifestations

1. Chest pain:
   • HPO: HP:0100749 "Chest pain"
   • SNOMED CT: 29857009 "Chest pain"
   • Onset: acute
2. Aortic root dilatation:
   • HPO: HP:0002616 "Aortic root aneurysm"
   • SNOMED CT: 251036003 "Aortic root dilatation"
   • Measurement: 48 mm (pathologically dilated)
3. Aortic valve regurgitation:
   • HPO: HP:0001659 "Aortic regurgitation"
   • SNOMED CT: 60234000 "Aortic valve regurgitation"
   • Severity: grade II (moderate)
4. Mitral valve regurgitation:
   • HPO: HP:0001653 "Mitral regurgitation"
   • SNOMED CT: 48724000 "Mitral valve regurgitation"
   • Severity: grade I (mild)

Ophthalmological manifestations

1. Cataract:
   • HPO: HP:0000518 "Cataract"
   • ICD-10-GM: H26.9 "Cataract, unspecified"
   • SNOMED CT: 193570009 "Cataract"
   • Localization: bilateral

Diagnoses

1. Main diagnosis:
   • Name: Marfan syndrome
   • ICD-10-GM: Q87.4 "Marfan syndrome"
   • Orpha: 558 "Marfan syndrome"
   • SNOMED CT: 19346006 "Marfan syndrome"
   • OMIM: 154700
   • Status: clinically confirmed
   • Date of determination: 2024-12-15
2. Secondary diagnosis:
   • Name: cataract
   • ICD-10-GM: H26.9 "Cataract, unspecified"
   • Status: surgically treated

Procedures

1. Cataract surgery:
   • OPS code: 5-144.5a "Extracapsular extraction of the lens [ECCE]: phacoemulsification: with insertion of a capsule-fixated posterior chamber lens, monofocal intraocular lens"
   • SNOMED CT: 54885007 "Phacoemulsification of cataract with intraocular lens implantation"
   • Date: 2024-11-12
   • Status: completed
2. Planned aortic root replacement surgery:
   • OPS code: 5-354.0a "Other operations on heart valves: aortic valve: valve reconstruction"
   • SNOMED CT: 119564002 "Aortic root replacement"
   • Planned date: 2025-03-15
   • Status: planned
   • Technique: David procedure (valve-sparing root replacement)

Medication

1. Losartan:
   • ATC code: C09CA01
   • Dose: 50 mg
   • Frequency: once daily
   • Indication: slowing the progression of aortic root dilatation
   • Start date: 2024-12-15
   • SNOMED CT: 387069000 "Losartan"

Diagnostic examinations

Echocardiography (2024-12-15)

1. Aortic root diameter:
   • LOINC: 79992-2 "Aortic root diameter by US"
   • Value: 48 mm
   • Interpretation: pathologically dilated
2. Aortic valve regurgitation grade:
   • LOINC: 80140-5 "Aortic valve regurgitation severity by US"
   • Value: grade II
   • Interpretation: moderate
3. Mitral valve regurgitation grade:
   • LOINC: 80186-8 "Mitral valve regurgitation severity by US"
   • Value: grade I
   • Interpretation: mild

Treatment plan

• Cardiological monitoring: echocardiography every 6 months
• Drug therapy: continuation of losartan
• Surgical therapy: elective aortic root replacement surgery on 2025-03-15
• Genetic counseling: recommended for family planning
• Ophthalmological follow-up: post-operative check-ups

FHIR mapping

Profiles used

The list below states what the example instances actually declare in meta.profile. Resources without an entry deliberately use the plain FHIR base resource: this module profiles what is specific to rare diseases and points at the neighbouring MII modules for the rest — laboratory values belong to Laborbefund, variant findings to Molekulargenetischer Befund. Neither is a dependency of this module, and nothing here inherits from them.

• Clinical diagnosis: mii-pr-seltene-clinical-diagnosis
• Genetic diagnosis: mii-pr-seltene-genetic-diagnosis
• Therapy recommendation, medicinal (losartan): mii-pr-seltene-therapieempfehlung
• Therapy recommendation, non-medicinal: mii-pr-seltene-therapieempfehlung-nicht-medikamentoes
• Unprofiled base resources: Patient and the transaction Bundle

Resource overview

Patient and phenotype

Resource ID	Type	Description	Date	Status/details
mii-exa-seltene-patient-marfan-001	Patient	19-year-old man	Birth: ~2005	ID: MRF-2024-001
mii-exa-seltene-observation-height-001	Observation	Body height	2024-12-15	2.13 m (HPO:0000098)
mii-exa-seltene-observation-leg-asymmetry	Observation	Leg length discrepancy	2024-12-15	Right shortened (HPO:0100559)

Symptoms and findings

Resource ID	Type	Description	Date	HPO code	Severity
mii-exa-seltene-symptom-chest-pain	Observation	Chest pain	2024-12-15	HP:0100749	Acute
mii-exa-seltene-symptom-aortic-root	Observation	Aortic root dilatation	2024-12-15	HP:0002616	48 mm
mii-exa-seltene-symptom-aortic-regurg	Observation	Aortic valve regurgitation	2024-12-15	HP:0001659	Grade II
mii-exa-seltene-symptom-mitral-regurg	Observation	Mitral valve regurgitation	2024-12-15	HP:0001653	Grade I
mii-exa-seltene-symptom-cataract	Observation	Bilateral cataract	2024-10-15	HP:0000518	Bilateral

Diagnoses

Resource ID	Type	Description	Date of determination	ICD-10	Orpha
mii-exa-seltene-condition-marfan-genetic	Condition	Marfan syndrome	2024-12-15	Q87.4	558
mii-exa-seltene-condition-cataract	Condition	Bilateral cataract	2024-10-15	H26.9	-

Procedures

Resource ID	Type	Description	Date	OPS code	Status
mii-exa-seltene-procedure-cataract-surgery	Procedure	Phacoemulsification with IOL	2024-11-12	5-144.5a	Completed
mii-exa-seltene-procedure-aortic-planned	Procedure	Aortic root replacement (David procedure)	2025-03-15	5-354.0a	Planned

Medication

Resource ID	Type	Drug	Dose	Start	Indication
mii-exa-seltene-medication-losartan	MedicationStatement	Losartan	50 mg once daily	2024-12-15	Aortic protection

Diagnostics

Resource ID	Type	Examination	Date	Key findings
mii-exa-seltene-observation-echo-aortic	Observation	Aortic root echo	2024-12-15	48 mm (pathological)
mii-exa-seltene-observation-echo-av	Observation	AV regurgitation echo	2024-12-15	Grade II
mii-exa-seltene-observation-echo-mv	Observation	MV regurgitation echo	2024-12-15	Grade I

Encounters

Resource ID	Type	Description	Date	Setting	Specialty
mii-exa-seltene-encounter-ophthalmology	Encounter	Ophthalmological consultation	2024-10-15	Outpatient	Ophthalmology
mii-exa-seltene-encounter-cataract-surgery	Encounter	Cataract surgery	2024-11-12	Day clinic	Ophthalmology
mii-exa-seltene-encounter-cardiology	Encounter	First cardiological presentation	2024-12-15	Outpatient	Cardiology
mii-exa-seltene-encounter-surgery-planned	Encounter	Planned cardiac surgery	2025-03-15	Inpatient	Cardiac surgery

Clinical assessments

Resource ID	Type	Description	Date	Key aspects
mii-exa-seltene-clinical-impression-seltene-assessment	ClinicalImpression	Cardiological assessment	2024-12-15	Marfan confirmed, indication for surgery

Bundle

Resource ID	Type	Description	Number of entries
mii-exa-seltene-bundle-marfan-complete	Bundle	Transaction bundle with all resources	20 resources

Resource diagrams

Overall view of all resources and their relationships

Timeline

Implementation

The complete FHIR resources are defined in the FSH sources of this module (input/fsh/Beispiel_Marfan/), including the transaction bundle.