Hereditary Aortopathy

Marfan Syndrome Aortopathy Pathway

A structured aortic measurement, serial growth and guideline-linked surveillance pathway using automatic Pediatric Heart Network / Lopez 2017 aortic Z-scores.

Clinical pathway

Marfan syndrome cardiovascular surveillance

Web pathway

Focus on the aortic root, ascending aorta, growth rate, valve disease, family history and other high-risk features. Automatic PHN / Lopez 2017 Z-scores are shown when body-size and measurement data are supplied.

Hereditary aortopathy

How to measure the aortic root

Standardised measurement technique is essential for serial assessment of hereditary aortopathy. Measurements should be performed consistently and according to the convention used by the selected reference dataset.

Aortic root and ascending aorta measurement sites for Marfan and Turner syndrome surveillance.

How to measure the aortic root in hereditary aortopathy surveillance, including the annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta.

Use the parasternal long-axis view for TTE assessment.
Measure perpendicular to the long axis of the vessel.
Use the phase and edge convention required by the selected reference dataset, and keep the technique consistent across serial studies.
If TTE is inadequate, cross-sectional imaging may be required.

Patient / assessment inputs

Body-size and aortic measurements

AgeyearsHeightcmWeightkgAortic annulusmmAortic root / sinuses of ValsalvammSinotubular junctionmmProximal ascending aortammPrevious ascending/root measurementmmSerial Z-score parameterPrevious heightcmPrevious weightkgPrevious study dateCurrent study date

BSA is calculated with the Haycock method: 0.024265 × height(cm)^0.3964 × weight(kg)^0.5378. Current BSA: —.

Reference model status

PHN / Lopez aortic Z-scores

Reference model: Pediatric Heart Network / Lopez 2017

Automatic aortic Z-scores use the official PHN coefficients and explicit millimetre-to-centimetre conversion.

PHN/Lopez Z-scores are not presented as validated beyond age 18 years.

Results

Aortic measurements and indexing

Aortic measurementsIncomplete

Body-size / indexing resultIncomplete

Degree of aortic dilationEnter age, height, weight and an aortic measurement

Change from previous studyNo serial result

Clinical context

Risk modifiers

Guideline-linked context

Surveillance and specialist review

Imaging surveillance

Establish a baseline cardiovascular assessment and use serial echocardiography when appropriate. Consider more frequent imaging when dilation, rapid growth, or other high-risk features are present.

Use CMR or CT when TTE is inadequate or when assessment of the distal aorta is needed.

Clinical management

Blood-pressure surveillance and management, individualised activity advice, and review by an experienced aortopathy team are important. Medical therapy and exercise decisions require the treating team’s context.

For Marfan syndrome, consider family history, genotype/high-risk features, valve disease, and aortic growth rate alongside measurements.

Interpretation boundary

These pathway outputs support structured review. They do not issue an automatic surgical or “operate” recommendation. Findings meeting a guideline threshold should prompt specialist aortic surgical assessment.

References and provenance

Morris SA et al. Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the AHA. Circulation. 2024;150:e228–e254. DOI: 10.1161/CIR.0000000000001265
Pediatric Heart Network Echo Z-Scores
Lopez L et al. Relationship of Echocardiographic Z Scores Adjusted for Body Surface Area to Age, Sex, Race, and Ethnicity: The Pediatric Heart Network Normal Echocardiogram Database. Circ Cardiovasc Imaging. 2017;10:e006979. DOI: 10.1161/CIRCIMAGING.117.006979
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease. DOI: 10.1161/CIR.0000000000001106

BSA: Haycock GB, Schwartz GJ, Wisotsky DH. J Pediatr. 1978;93(1):62–66. PubMed

Developed by Dr Michael Sammaan · Paediatric Cardiology · Advanced Echocardiography & Cardiac CT · Evidence reviewed: September 2026

For healthcare professional use. Guideline interpretation should be individualised and applied alongside local specialist practice. ZED Cardio does not replace specialist clinical judgement.