Table 2.
Multidisciplinary management of Marfan syndrome according to the aim and method of care in each discipline
| Discipline | Aim of care | Method of care |
|---|---|---|
| Core disciplines | ||
| Pediatrician/pediatric cardiologist | To diagnose MFS and other GAS as early in life as possible To prevent cardiovascular, ophthalmic, or orthopedic complications To achieve full integration into school, physical education, and support early career choices To achieve a successful transition from adolescence to adulthood |
Periodical evaluation of cardiovascular features (ECG, TTE), growth, skeletal features, ocular symptoms, pulmonary airway, integument, dural ectasia, and dental features Review diagnosis periodically in unclear cases Provide prophylactic medication including BAB, ARB, or ACEi and endocarditis prophylaxis Review physical activity restrictions/lifestyle modifications |
| Human geneticist | To inform patients and families about implications of GAS To confirm the clinical diagnosis by identifying the disease-causing mutation To molecularly differentiate MFS from other GAS |
Complete family history and analysis of the pedigree Genetic counseling Arrange appropriate molecular genetic testing Interpret and counsel regarding the results |
| Cardiologist | To establish a correct diagnosis of MFS or of other GAS To predict, prevent, retard, or treat aortic aneurysm, mitral or aortic valve regurgitation or IE, or myocardial dysfunction To protect women from aortic complications when they plan pregnancy |
Inform patients about life-style modifications including some restrictions in adults such as no contact sports, no isometric exertion, no exertion at maximal capacity Treat with BAB, ARB, or ACEi Perform baseline NT-pro-BNP serum levels, 12-lead resting ECG, 24-hour blood pressure measurements, TTE, MRI of entire aorta (in Germany, not in the US) Perform annual follow-up visits including NT-pro-BNP serum levels, 12-lead resting ECG, blood pressure measurements, TTE, and MRI of the aorta if indicated |
| Heart surgeon | To rescue life when aortic dissection or rupture occurs To normalize life-expectancy by performing prophylactic aortic root replacement for growing aneurysm or reconstructive surgery of other heart valves To protect women from aortic complications when they plan pregnancy To improve life quality by avoiding anticoagulation, artificial prosthetic noise, or unnecessary cosmetic impairment |
Emergency replacement of the aortic root using composite- graft replacement with a mechanical valve or valve-sparing root replacement techniques (favor for David technique119) when aortic dissection or rupture occurs Prophylactic aortic root replacement using the reimplantation technique according to David118 Mitral valve repair surgery Participate in cardiologic post-surgical follow-up visits |
| Vascular surgeon/vascular interventionist | To rescue life when aortic dissection or rupture occurs (type B) To protect against rupture of the descending thoracic or abdominal aorta, or both To protect against organ malperfusion from aortic dissection or vascular embolism |
Open surgery or endovascular treatment of aortic aneurysm (prophylactic), dissection (acute and chronic), or rupture of the thoracic or abdominal aorta Treatment of vascular complications of main aortic branches |
| Orthopedic surgeon | To enable and support professional and private living arrangements To convince parents of the importance of regular sporting activities To support and instruct orthopedic colleagues, who less frequently are confronted with MFS patients |
Imaging of the spine Podiatrist care, “short foot exercise” Preparticipation evaluation (PPE) before athletic participation Conservative and operative treatment options to both children and adults with scoliosis or with protrusive hip arthritis |
| Ophthalmologist | To assess ophthalmic diagnostic criteria of MFS To provide a reliable statement on the ophthalmic prognosis and treatment options To implement and improve new ophthalmic screening techniques |
Basic ophthalmological examinations: distance corrected visual acuity, intraocular pressure measurement, documentation of pupil centration (miosis), slit-lamp examination to determine iris stromal atrophy and dilated funduscopy of the retina and thorough lens position and zonular status determination New techniques: corneal topography, tomography, and dynamic in vivo curve analysis |
| Nurse | To provide whole-person-perspective-care comprising five dimensions, ie, physical, psychological, sociocultural, development based, and spiritual dimension | Strengthen the individual patient’s daily self-care activities Networking between specialized departments to provide individualized care Education to make patients experts of their own disease |
| Auxiliary disciplines | ||
| Forensic pathologist | To determine the cause of death in persons who died outside the clinical setting To identify possible treatment failures including misdiagnosis and malpractice To identify genetic causes of death such as GAS To initiate family member support |
Autopsy of all persons who die of unclear cause outside a hospital setting Perform genetic testing in deceased persons with aortic disease and a risk for GAS Genetic counseling of family members of the deceased person |
| Radiologist | To assess diagnostic criteria of MFS To identify aortic and vascular complications of MFS or other GAS including aneurysms of cerebral-, carotid-, visceral, and peripheral arteries. To specify chronic aortic and vascular pathology as aneurysm, tortuosity, dissection To identify acute aortic syndromes (AAD, IMH, PAU) and vascular complication including the rupture and organ malperfusion |
Tomographic imaging of the entire aorta (index and follow-up CT or MRI scans) Tomographic imaging of the dura as diagnostic criteria of MFS Cranial radiographs (craniofacial characteristics), Conventional chest radiography and CT (lung emphysema and pneumothorax) |
| Pulmonologist and sleep specialist | To identify emphysema, pneumothorax, and restrictive lung disease (from skeletal deformities) and to prevent or treat pulmonary complication To identify and treat individuals with sleep apnea to improve cardiovascular prognosis |
Counseling on potential restriction in physical activities Pulmonary function testing Chest radiography or CT Polygraphy to screen for OSA/CSA CPAP therapy |
| Rhythmologist | To identify patients at risk for SCD, to stratify such risk, and to initiate preventive therapy, where indicated | Methods for risk stratification of SCD: TTE: myocardial dysfunction? Aortic regurgitation? Mitral valve prolapse? Mitral valve regurgitation? 12-lead resting ECG: PVCs? 24-hour-Holter ECG: PVCs >10/h, non-sustained and sustained VTs, abnormal heart rate turbulence (TS and TO abnormal) NT-proBNP serum levels: elevated (>200–600 pg/mL) Genetics: FBN1-mutations within exon 24–32? |
| Orthodontist/dentist | To identify dental and skeletal class II configurations, joint hypermobility To prevent temporomandibular joint dysfunction and condylar resorption To identify and prevent periodontal inflammation to reduce the risk of IE To prevent reduced chewing efficiency, lip incompetence and craniofacial dysmorphology |
Bite correction and regulation of craniofacial growth in childhood and in adolescence Diagnosis of temporomandibular joint dysfunction If required prescribe physiotherapy Professional tooth cleaning at regular intervals to reduce periodontal inflammation Prescribe myofunctional therapy to achieve lip competence and to strengthen the orofacial muscle |
| Neurologist | To assess neurologic diagnostic criteria to establish the diagnosis of MFS To prevent or identify cardioembolic stroke, cervical and vertebral artery dissections, and intracranial aneurysms subarachnoid hemorrhage, especially in LDS To consider GAS in young individuals with stroke and cervical artery dissection |
Neurological examination Regular neurovascular imaging in LDS Interpretation of accentuated vertebral and carotid artery tortuosity Neurosurgical and endovascular treatment of cerebral aneurysms Acute treatment and secondary prevention of stroke |
| Obstetric surgeon | To allow mothers and families to make an autonomous decision on family planning and pregnancy To prevent or to manage complications of pregnancy in mother and child successfully |
Counseling for family planning and pregnancy in terms of risks of mother and child TTE prior to, during and until 3 months after pregnancy Obstetric board meetings during pregnancy Emergency planning in high-risk pregnancies |
| Psychologist | To reduce the burden of anxiety, trauma, feeling of stigmatization To improve coping with MFS by strengthening the patients’ self-confidence |
Establish a solid, trust-based patient-therapist-alliance Identify body image disorders, family conflicts, accidental risk behavior, sex-specific aspects |
| Rehabilitation specialist | To achieve the best possible support of the patient’s capacities with respect to biological, psychological, and social aspects | Formulation of patient’s individual rehabilitation goals to make rehabilitation plan Provide specialized education Daily bicycle ergometry, gymnastics, fitness training, and nordic walking units to overcome patients’ uncertainty regarding their physical abilities Psychological counseling Relaxation training Counseling for job-related issues and dietary counseling |
Abbreviations: AAD, acute aortic dissection; ACEi, angiotensin converting enzyme inhibitor; ARB, angiotensin-receptor blockers, BAB, beta-adrenergic blockers; CPAP, continuous positive airway pressure; CSA, central sleep apnea; CT, computed tomography; ECG, electrocardiography; GAS, genetic aortic syndromes; IE, infective endocarditis; IMH, intramural hematoma; LDS, Loeys-Dietz syndrome; MFS, Marfan syndrome; MRI, magnetic resonance imaging, NT-pro-BNP, N-terminal probrain natriuretic peptide; OSA, obstructive sleep apnea; PAU, penetrating therosclerotic ulcer; PVCs, premature ventricular contractions; SCD, sudden cardiac death; TTE, transthoracic echocardiography.