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Health Supervision for Children with Marfan Syndrome Abstract

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Health Supervision for Children with Marfan Syndrome Abstract FROM THE AMERICAN ACADEMY OF PEDIATRICS Guidance for the Clinician in Rendering Pediatric Care CLINICAL REPORT Health Supervision for Children With Marfan Syndrome Brad T. Tinkle, MD, PhD, Howard M. Saal, MD, and the COMMITTEE ON GENETICS abstract KEY WORD Marfan syndrome is a systemic, heritable connective tissue disorder Marfan syndrome that affects many different organ systems and is best managed by us- This document is copyrighted and is property of the American ing a multidisciplinary approach. The guidance in this report is Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements with the American designed to assist the pediatrician in recognizing the features of Mar- Academy of Pediatrics. Any conflicts have been resolved through fan syndrome as well as caring for the individual with this disorder. a process approved by the Board of Directors. The American Pediatrics 2013;132:e1059–e1072 Academy of Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of this publication. The guidance in this report does not indicate an exclusive INTRODUCTION course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be Marfan syndrome is a heritable, multisystem disorder of connective appropriate. tissue with extensive clinical variability. It is a relatively common condition, with approximately 1 in 5000 people affected.1 Cardinal features involve the ocular, musculoskeletal, and cardiovascular systems. Because of the high degree of variability of this disorder, many of these clinical features can be present at birth or can man- ifest later in childhood or even adulthood. Marfan syndrome is an autosomal dominant disorder mainly caused by defects in FBN1, the gene that codes for the protein fibrillin, although patients with mutations in other genes, including TGFBR1 and TGFBR2, have also been reported, albeit rarely.2 Mutations in FBN1 are asso- www.pediatrics.org/cgi/doi/10.1542/peds.2013-2063 ciated with a wide phenotypic spectrum ranging from classic features doi:10.1542/peds.2013-2063 of Marfan syndrome presenting in childhood and early adulthood to All clinical reports from the American Academy of Pediatrics severe neonatal presentation with rapidly progressive disease. At the automatically expire 5 years after publication unless reaffirmed, other end of the spectrum, isolated phenotypic features, such as revised, or retired at or before that time. ectopia lentis or skeletal manifestations alone, may be the only pre- PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). senting signs. Mutations in FBN1 are found in up to 95% of those Copyright © 2013 by the American Academy of Pediatrics meeting diagnostic criteria.3,4 However, the diagnosis of Marfan syn- drome is clinically based on well-defined criteria (revised Ghent di- agnostic criteria [Tables 1 and 2]) and does not include the whole spectrum of FBN1-related disorders, especially the milder, isolated features.5 Thus, genetic testing of FBN1 is best reserved for those patients in whom there is a strong clinical suspicion of Marfan syn- drome, including those with the “emerging” phenotype, using estab- lished guidelines of the interpretation of such results. Because many of the more specific clinical features are age dependent (eg, ectopia lentis, aortic dilation, dural ectasia, protrusio acetabuli), children and adolescents may not fulfill formal diagnostic criteria and are often described as having “potential” Marfan syndrome. Younger patients at risk for Marfan syndrome on the basis of clinical features or a posi- tive family history should be evaluated periodically (eg, at 5, 10, 15, and 18 years of age) in lieu of genetic testing. PEDIATRICS Volume 132, Number 4, October 2013 e1059 TABLE 1 Revised Ghent Diagnostic Criteria Approximately one-quarter of cases general population.9 Hormonal ther- for Marfan Syndrome occur as a result of a new mutation, apy to limit adult height is rarely used Diagnosis of definitive Marfan syndrome with the remainder inherited from an in males. Complications can include (any of the following) affected parent. Because of the broad accelerated growth, early puberty, • ≥ Aortic root 2 z score and ectopia lentis phenotypic variability, some parents and the undesirable consequences of • Aortic root ≥2 z score and FBN1 mutation • Aortic root ≥2 z score and systemic score ≥7 will not be readily recognized as hav- associated increased blood pressure, • Ectopia lentis and FBN1 mutation known to be ing Marfan syndrome.8 In such cases, which may increase the progression associated with Marfan syndrome both parents and at-risk first-degree of the aortic dilation. Prepubertal • Positive family history of Marfan syndrome and ectopia lentis relatives should have physical, oph- females have been treated with high- • Positive family history of Marfan syndrome thalmologic, and cardiac evaluation as dose estrogen therapy and pro- and systemic score ≥7 well, with consideration of genetic gesterone to reduce final adult height • Positive family history of Marfan syndrome and aortic root ≥3 z score in those <20 y of testing. in the past; however, this treatment age or ≥2 z score in those >20 y of age remains controversial in both its Diagnosis of potential Marfan syndrome GROWTH AND DEVELOPMENT psychosocial and medical benefits.10 • FBN1 mutation with aortic root with a z score <3 in those <20 y of age Overall growth is characterized by Lean muscle mass is also affected. excessive linear growth of the long Individuals with Marfan syndrome of- ten show a paucity of muscle mass and Many features of Marfan syndrome are bones. Typically, most individuals with Marfan syndrome are tall for age fat stores despite adequate caloric seen in isolation as well as in other intake. Weight is often below the 50th 6 (Figs 1 and 2), but it is important to genetic syndromes (Table 3). Di- percentile for age.9 agnosis should be clearly established note that not all affected individuals Cognitive ability in patients with Marfan when possible. For those suspected to are tall by population standards; they syndrome is usually within the typical have Marfan syndrome based on are typically taller than predicted for range for the general population. How- clinical grounds after physical, car- their family (excluding others with 9 fi ever, poor vision and underlying medical diac, and ophthalmic evaluation but Marfan syndrome). Mean nal height ± problems may interfere with learning. Q:3 who may not meet full clinical criteria, was 191.3 9 cm (75 in) for males ± Similarly, many patients report chronic one can consider FBN1 testing.7 and 175.4 8.2 cm (69 in) for females. fatigue, which may affect education The growth of the tubular bones is and can manifest as inattention or 11 accelerated in Marfan syndrome, poor concentration. The etiology of TABLE 2 Systemic Scoring System for the resulting in disproportionate features. the fatigue is likely heterogeneous, Revised Ghent Diagnostic Criteria in part because of the underlying for Marfan Syndrome (Shown in The extremities are often dispropor- Table 1) tionately long in comparison with the chronic condition, medications such β Feature Value trunk (dolichostenomelia), altering the as -blockers, sleep disturbance (eg, Wrist and thumb sign 3 upper-to-lower segment and the arm- sleep apnea), and/or orthostatic in- 12 Wrist or thumb sign 1 span-to-height ratios. The arm-span-to- tolerance. Pectus carinatum 2 fi Pectus excavatum or chest asymmetry 1 height ratio is relatively xed during childhood, but the upper-to-lower Hindfoot deformity (eg, valgus) 2 SKELETAL Pes planus 1 segment ratio changes during growth Pneumothorax 2 (Fig 3). Use of such measurements Skeletal system involvement in Marfan Dural ectasia 2 Protrusio acetabulae 2 should take into account racial, gender, syndrome is characterized by bone Reduced upper-to-lower segment ratio and 1 and age differences. Similarly, the tu- overgrowth. Such overgrowth may be increased arm-span-to-height ratio bular bones of the hand and fingers noticeable at birth or can develop in Scoliosis or thoracolumbar kyphosis 1 Reduced elbow extension 1 are elongated, but the palm is not young children, with a tendency to Craniofacial features: 3 of the following— 1 proportionately wider, resulting in rel- progress more rapidly during periods dolichocephaly, downward-slanting ative arachnodactyly as measured by of rapid growth, necessitating close palpebral fissures, enophthalmos, retrognathia, and malar hypoplasia the thumb and wrist signs (Fig 4). monitoring at such times (Table 4). Skin striae 1 Excessive growth in Marfan syndrome Overgrowth of the ribs can push the Myopia 1 is attributable, in part, to a peak sternum inward (pectus excavatum) Mitral valve prolapse 1 growth velocity that typically occurs as or outward (pectus carinatum). Nearly Adapted from Loeys et al.3 Z score calculations are based on Roman et al.38 much as 2 years earlier than the two-thirds of patients with Marfan e1060 FROM THE AMERICAN ACADEMY OF PEDIATRICS FROM THE AMERICAN ACADEMY OF PEDIATRICS TABLE 3 Differential Diagnoses: Syndromes With Overlapping Features of Marfan Syndrome Syndrome Manifestations Genetic Etiology Mitral valve prolapse syndrome Mitral valve prolapse; skeletal manifestations as seen in Marfan FBN1(in some) syndrome MASS phenotype Mitral valve prolapse; myopia; nonprogressive aortic dilation; FBN1 nonspecific skin and skeletal features Familial ectopia
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