PPM - Evaluation of the Individual with Possible Marfan Syndrome-Description and References

Description and References

Pdf Summary

This document outlines guidelines for evaluating individuals suspected of having Marfan syndrome, a connective tissue disorder with significant skeletal implications. Accurate diagnosis is crucial to ensure appropriate monitoring and management of patients and their families, given the potential for serious complications involving the cardiovascular, ocular, skeletal, and other systems. The American College of Medical Genetics and Genomics (ACMG) guidelines, alongside the 2010 revised Ghent nosology, provide the primary frameworks for clinical assessment. These tools help differentiate Marfan syndrome from other conditions presenting with similar features, including other skeletal dysplasias.<br /><br />The clinical geneticist plays a key role in assessing individuals—both children and adults—who present with clinical features suggestive of Marfan syndrome, particularly skeletal manifestations such as disproportionate limb length, chest deformities, or scoliosis. The evaluation emphasizes a thorough clinical history, physical examination, and use of validated diagnostic criteria.<br /><br />The literature referenced includes comprehensive resources such as the GeneReviews entry on FBN1-related Marfan syndrome, which details the molecular basis and clinical presentations; the revised Ghent criteria that standardize diagnosis; and recent reviews that summarize advances in understanding Marfan syndrome and its management. The National Marfan Foundation provides additional tools, including diagnostic scoring forms, to assist clinicians.<br /><br />In summary, this module aims to equip healthcare providers with knowledge and tools to: 1) correctly apply current diagnostic guidelines when evaluating possible Marfan syndrome, and 2) recognize alternative diagnoses in individuals who do not meet the full clinical criteria. This careful, standardized approach supports early identification, appropriate surveillance, and family counseling to mitigate the morbidity associated with this complex disorder.

Keywords

Marfan syndrome

connective tissue disorder

skeletal manifestations

ACMG guidelines

2010 revised Ghent nosology

clinical geneticist

FBN1 gene

diagnostic criteria

National Marfan Foundation

differential diagnosis