Cardiovascular Management of Marfan Syndrome and Pectus Excavatum

Associated Conditions

Marfan syndrome is commonly associated with pectus excavatum, scoliosis, kyphoscoliosis, or other skeletal abnormalities, as reported by the American Thoracic Society and the American Heart Association 1, 2
Marfan syndrome is characterized by multisystem involvement affecting the cardiovascular, ocular, skeletal, pulmonary, and integumentary systems, with cardiovascular complications being the primary cause of morbidity and mortality 3

Chest radiography is an initial screening tool to identify structural abnormalities of the sternum, ribs, and thoracic spine, but has limitations in precise localization and characterization, as suggested by the American College of Radiology and the Journal of the American College of Radiology 4, 4
MRI is superior for soft tissue evaluation and is particularly valuable for post-treatment evaluation, according to the American College of Radiology 4
CT scans are the gold standard for evaluation of chest wall deformities, allowing precise characterization of anatomy and degree of deformity, and are useful for surgical planning, with 3D reconstructions providing valuable information for patient education, as recommended by the Journal of the American College of Radiology 5
Ultrasound has a limited role in primary evaluation but may help evaluate associated pleural or diaphragmatic complications, as indicated by the Journal of the American College of Radiology 4

Diagnosis of Marfan syndrome can be made with any of the following combinations: dilated aortic root and ectopia lentis, dilated aortic root and pathogenic FBN1 mutation, dilated aortic root and systemic score ≥7 points, or ectopia lentis and FBN1 mutation associated with aortic disease 3
Systemic score can be calculated based on features such as wrist and thumb sign, pectus carinatum, hindfoot deformity, pneumothorax, dural ectasia, and protrusio acetabuli, with each feature contributing a specific number of points 3
A comprehensive echocardiogram is recommended to assess aortic root diameter, aortic valve function, mitral valve for prolapse and regurgitation, and left ventricular function in patients with Marfan's syndrome, with follow-up intervals based on aortic root size:
Aortic Root Size Follow-up Interval
Normal every 2-3 years
>4.5 cm or rate of increase >0.5 cm/year every 6 months
<4.5 cm and rate of increase <0.5 cm/year annually
3, 6

Aortic Root Size	Follow-up Interval
Normal	every 2-3 years
>4.5 cm or rate of increase >0.5 cm/year	every 6 months
<4.5 cm and rate of increase <0.5 cm/year	annually

Beta-blocker therapy is standard treatment, with a target systolic blood pressure <120 mmHg, as recommended by the American College of Medical Genetics and the European Heart Journal 3, 6
Consider angiotensin receptor blockers (ARBs) as an alternative or in combination with beta-blockers for cardiovascular protection, as recommended by the European Heart Journal and the American Heart Association 6, 7
Surgical intervention is recommended when aortic root diameter reaches 4.5 cm or shows rapid growth, with cardiovascular management always taking precedence over pectus repair, as recommended by the American College of Cardiology and the American College of Medical Genetics 3, 7
Non-surgical approaches, such as bracing for mild to moderate pectus carinatum and physical therapy for associated musculoskeletal issues, can be effective in managing chest wall deformities, although the strength of evidence for these approaches is not specified, as suggested by the Chest society 8
Surgical approaches, including the minimally invasive repair of pectus excavatum (MIRPE/Nuss procedure) and the modified Ravitch procedure, can be used to correct chest wall deformities, with the choice of procedure depending on the severity of the deformity and the patient's overall health, as noted by the Journal of the American College of Radiology 5

Regular echocardiographic monitoring is essential, with frequency depending on aortic root size and growth rate, as recommended by the American College of Medical Genetics 3
Annual evaluation for scoliosis is recommended until adult height is reached, as suggested by the American Academy of Pediatrics 3
Offer genetic testing to confirm diagnosis and identify specific mutation, and screen first-degree relatives with echocardiography and clinical evaluation, as recommended by the American College of Medical Genetics and the European Heart Journal 3, 6
Continued medical therapy for cardiovascular protection is essential even after any surgical intervention, to reduce the risk of aortic dilation and other cardiovascular complications, as suggested by the American Heart Association 7
Delay surgical repair of pectus excavatum if aortic root dilation is present and approaching surgical thresholds (≥4.5 cm), as aortic root surgery takes precedence over pectus repair, recommended by the American College of Cardiology and the American College of Medical Genetics 7, 3