Selected Heritable Disorders of Connective Tissue and Disability (2022) / Chapter Skim
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3 Marfan Syndrome and Related Hereditary Aortopathies
3 Marfan Syndrome and Related Hereditary Aortopathies
Pages 47-72
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From page 47... ...
HISTORY OF MARFAN SYNDROME AND RELATED HEREDITARY AORTOPATHIES In 1896, the French pediatrician Antoine Marfan described a young girl with unusually long digits (arachnodactyly) and joint contractures from birth.
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DIAGNOSIS OF MARFAN SYNDROME AND RELATED HEREDITARY AORTOPATHIES Diagnosis of Marfan Syndrome The current diagnostic criteria for MFS are based on clinical and molecular features, summarized most recently in the 2010 revised Ghent nosology, also known as the Ghent II criteria (Loeys et al., 2010)
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. CHARACTERISTICS OF MARFAN SYNDROME AND RELATED HEREDITARY AORTOPATHIES Marfan Syndrome Clinical Picture The majority of MFS patients have notable involvement of the cardiovascular, musculoskeletal, and ocular systems, as well as abnormalities in the respiratory and central nervous systems (Loeys et al., 2010)
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• "Where aortic root dilatation (Z ≥ 2) or dissection is present, but ectopia lentis is absent and the FBN1 status is either unknown or negative, a Marfan syndrome diagnosis is confirmed by the presence of sufficient systemic findings (≥ 7 points, according to a scoring system)
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From page 51... ...
4. Ectopia lentis AND an FBN1 mutation with known aortic root dilatation = Marfan syndrome • "In the presence of ectopia lentis, but absence of aortic root dilata tion/dissection, the identification of an FBN1 mutation previously associated with aortic disease is required before making the diag nosis of Marfan syndrome" (Loeys et al., 2010, p.
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Chapter 5 contains additional information related to the physical and mental secondary impairments associated with and functional implications of MFS and related hereditary aortopathies (see Annex Tables 5-3–5-16 at the end of that chapter)
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. Aortic root dilatation is more common in males than in females, whereas mitral valve prolapse is more common in females than in males (Roman et al., 2017)
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. Neurologic manifestations commonly include dural ectasia, an enlargement of the dural sac around the spinal cord, and spinal arachnoid cysts or diverticula (Meester et al., 2017)
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From page 55... ...
Individuals with LDS can experience aortic dissection earlier in life and with smaller aortic diameters relative to those with MFS. Other cardiovascular manifestations seen in LDS but not in MFS include tortuous arteries in multiple anatomic locations (Loeys and Dietz, 2018)
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The vascular features of LDS include rapidly progressive aortic and peripheral arterial aneurysmal disease that can lead to dissection (Loeys and Dietz, 2018; Loughborough et al., 2018)
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. Aortic root
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, undersized lower jaw, protruding eyes, abnormal external ears, indented or protruding sternum, scoliosis, mitral valve prolapse, occasional aortic root dilatation and aneurysms, occasional aneurysms beyond the aorta, multiple abdominal wall hernias, infantile hypotonia, intellectual disability, bone loss, decreased subcutaneous tissues, and obstructive sleep apnea (Greally, 2020; Loeys et al., 2005; Robinson et al., 2005)
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Ophthalmologists diagnose and manage ectopia lentis, myopia, and strabismus in childhood, and monitor adults for the development of cataracts, glaucoma, and retinal tears. Physical and occupational therapists can provide interventions to mediate impairments and functional limitations.
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The more aggressive nature of aortic root dilatation and dissection in LDS warrants close monitoring, and surgery is recommended at an earlier stage of aortic dilation because of the increased likelihood of catastrophic events. Unlike management of MFS, management of LDS includes diagnostic or baseline vascular imaging with magnetic resonance angiography or computed tomography angiography of the head, neck, chest, abdomen, and pelvis to assess for aneurysms throughout the aorta and arterial tree and to look for arterial tortuosity (MacCarrick et al., 2014)
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. EMERGING TREATMENTS Better medications to protect the aorta remain an important and ongoing goal of research in MFS and related hereditary aortopathies; at present, beta blockers and angiotensin-converting enzyme blockage remain the mainstay of treatment.
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Conclusions 3-1. MFS and related hereditary aortopathies have multiple physical and mental manifestations that, individually or in combination, can cause functional limitations of varying severity.
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2007. Relation of aortic root dilatation and age in Marfan's syndrome. European Heart Journal 28(3)
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2019. Congenital contractural arachnodactyly.
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2018. Predictors of rapid aortic root dilation and referral for aortic surgery in Marfan syndrome.
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American Journal of Medical Genetics Part A 164a(8)
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From page 67... ...
American Journal of Medical Genetics Part A 135(3)
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From page 68... ...
American Journal of Medical Genetics Part A 167(12)
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MARFAN SYNDROME AND RELATED HEREDITARY AORTOPATHIES 69 Velvin, G., T Bathen, S
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From page 70... ...
and cataracts, trabeculodysgenesis, strabismus, aortic valve regurgitation, mitral valve regurgitation and prolapse, congestive heart failure, tricuspid valve prolapse, premature calcification of the mitral annulus, aortic root dilatation and dissection, ascending aortic root aneurysm, pulmonary artery dilatation, emphysema, pneumothorax, pulmonary blebs, pectus abnormalities, recurrent hernias, scoliosis, spondylolithesis, lumbar dural ectasia, protrusion acetabulae, long-bone overgrowth, joint hypermobility and contractures, hammer toes, pes planus and pes cavus, and decreased muscle mass. Loeys-Dietz syndrome Loeys-Dietz syndrome is an autosomal dominant inherited arthropathy Diagnostic criteria syndrome with widespread systemic involvement.
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From page 71... ...
and ventricular septal defect; bicuspid aortic valve; patent ductus Laboratory genetic (mutation) testing arteriosus; aortic root dilatation; interrupted aortic arch; pectus Fibrillin 2 (FBN2)
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