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Are Patients with Loeys-Dietz Syndrome Misdiagnosed with Beals Syndrome? Rebecca Woolnough, Andrew Dhawan, Kimberly Dow and Jagdeep S

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Are Patients with Loeys-Dietz Syndrome Misdiagnosed with Beals Syndrome? Rebecca Woolnough, Andrew Dhawan, Kimberly Dow and Jagdeep S Are Patients With Loeys- Dietz Syndrome Misdiagnosed With Beals Syndrome? Rebecca Woolnough, MD, a Andrew Dhawan, MD,b Kimberly Dow, MD,a Jagdeep S. Walia, MBBS, FRCPCa Beals syndrome, also known as congenital contractural arachnodactyly abstract (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described in 2005, is associated with mutations for the transforming growth factor β receptor and is characterized by findings of cerebral, thoracic, and abdominal arterial aneurysms. This report describes a 17-year-old male patient with a typical neonatal diagnosis of Beals syndrome. At age 15 years, an echocardiogram conducted in response to an aortic dissection in his father showed moderate aortic root dilation, prompting comprehensive testing for aortopathies, revealing a mutation in TGFBR1, a Department of Pediatrics, and bSchool of Medicine, thereby changing the diagnosis to Loeys-Dietz syndrome. Previously Queen’s University, Kingston, Ontario, Canada published reports have not implicated any mutation of the transforming Dr Woolnough drafted the initial manuscript; growth factor β receptor genes in cases of Beals syndrome. This case Dr Dhawan reviewed and revised the manuscript; underscores that due to significant phenotypic overlap, there is utility in and Drs Dow and Walia conceptualized, edited, and a full panel of testing, including genes for hereditary connective tissue designed the case report. All authors approved FBN2. the fi nal manuscript as submitted and agree to be disorders with vascular involvement, as well as Likewise, young accountable for all aspects of the work. FBN2 patients who have tested negative for should be tested for hereditary DOI: 10.1542/peds.2016-1281 connective tissue disorders with vascular involvement. Accepted for publication Sep 12, 2016 Address correspondence to Jagdeep S. Walia, MBBS, Department of Pediatrics, Kingston General Beals syndrome (Online Mendelian features are limited to mitral valve Hospital, 76 Stuart St, Kingston, ON, Canada, K7L Inheritance in Man [OMIM]: 121050) prolapse, compared with the more 2V7. E-mail: [email protected] is described in the literature as severe cardiac complications typically PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, an autosomal dominant disorder, associated with Marfan syndrome (eg, 1098-4275). typically characterized by congenital aortic root dilation). Copyright © 2017 by the American Academy of contractures and arachnodactyly. 1, 2 Pediatrics The implicated pathogenic mechanism Loeys-Dietz syndrome (OMIM: FINANCIAL DISCLOSURE: The authors have is a mutation in the FBN2 gene, 609192), initially described in 2005, indicated they have no fi nancial relationships relevant to this article to disclose. coding for fibrillin protein, in region is associated with mutations in the 5q23-31. 3 This syndrome shares genes coding for the transforming FUNDING: No external funding. a number of clinical features with growth factor β receptors TGFBR1 POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential confl icts of Marfan syndrome (OMIM: 154700), and TGFBR2. 4 – 6 This syndrome is interest to disclose. including a marfanoid body habitus clinically characterized by findings and arachnodactyly. However, of cerebral, thoracic, and abdominal there are a number of differing arterial aneurysms. Common To cite: Woolnough R, Dhawan A, Dow K, et al. Are features, particularly the fact that skeletal abnormalities associated Patients With Loeys-Dietz Syndrome Misdiagnosed Beals syndrome is believed to be a with Loeys-Dietz syndrome include With Beals Syndrome?. Pediatrics. 2017;139(3): e20161281 benign condition in which cardiac pectus deformities, arachnodactyly, Downloaded from www.aappublications.org/news by guest on October 1, 2021 PEDIATRICS Volume 139 , number 3 , March 2017 :e 20161281 CASE REPORT FIGURE 1 Patient photographs taken from birth. A, Facial photo showing right-sided ptosis. B, Facial profile showing crumpled ear helix, low-set ears, microretrognathia, and frontal bossing. C and D, Multiple congenital contractures with arachnodactyly. E, Bilateral talipes equinovarus. and club feet; common craniofacial pregnancy and perinatal course; he frontal bossing, partial right ptosis, abnormalities include hypertelorism, was initially referred shortly after and malar hypoplasia. There was also bifid uvula, and cleft palate. birth to medical genetics due to microretrognathia and a high arched Aneurysms in this condition occur multiple congenital anomalies ( Fig 1). palate. His ears were low-set, with early in life and can have severe The patient’s family history was crumpled helices, normally rotated, complications; the reported mean age negative for any similar medical and with no associated pits ( Fig 1B). of death in these patients is 26.1 years. conditions or birth defects, and there The present article describes the were no craniofacial abnormalities in Initial Investigations case of a patient who was initially the patient’s mother or father. diagnosed with Beals syndrome At the time of initial consultation, General Examination before the recognition of Loeys-Dietz an echocardiogram revealed a syndrome; this diagnosis occurred On general physical examination, at small patent ductus arteriosus that after the development of aortopathy 7 weeks of age, the patient was at the resolved spontaneously. The aortic in the patient’s father, who received 25th percentile for weight, the 95th root was found to be dilated with a genetic testing, confirming a percentile for head circumference, diameter of 14 mm (z score, 4.04). diagnosis of Loeys-Dietz syndrome in and the 90th percentile for length. He A karyotype was unremarkable. No himself. This case serves to highlight had an elongated chest, with marked further targeted genetic testing was the fact that due to the significant nonfixed contractural arachnodactyly available at the time of the patient’s clinical overlap between the Beals ( Fig 1 C and D). Both feet were noted initial genetic consultation. and Loeys-Dietz syndromes, there to be clubbed from birth ( Fig 1E). is a crucial need for targeted There was normal male genitalia Initial Diagnosis genetic testing to differentiate these and a small umbilical hernia. No syndromes and to assess the need for neurologic deficits or cardiovascular Based on these features, without follow-up of cardiac parameters to abnormalities were noted on the availability of specific genetic improve prognosis for these patients. examination. testing at the time of presentation, a clinical diagnosis of Beals syndrome Craniofacial Abnormalities was made. In particular, the CASE REPORT This patient was found to have a findings of congenital contractural The male patient was born in 1998 number of craniofacial abnormalities. arachnodactyly increased suspicion at term after an uncomplicated In particular, there was prominent for this syndrome. Downloaded from www.aappublications.org/news by guest on October 1, 2021 e2 WOOLNOUGH et al Clinical Course The noteworthy features in this patient that evolved over time included childhood myopia, with ophthalmologic assessments not revealing ectopia lentis at any point. Because Beals syndrome was believed to be unrelated to persistent cardiac issues, in view of the moderately dilated aortic root at birth, cardiac monitoring was arranged as a 1-year follow-up FIGURE 2 echocardiogram, which showed Congenital contractural arachnodactyly. a normal aortic root. No further follow-up was arranged until his father was diagnosed with aortic dissection. The patient’s dysmorphic features persisted ( Figs 2 – 4), notably with significant craniofacial dysmorphism and arachnodactyly. The patient grew to become the tallest member of his family with a height of 187 cm (mid- parental height, 184.3 cm). Developmentally, he displayed a mild learning disability but FIGURE 3 remained otherwise well. A, Pedal anomalies. B, Long, contracted toes are evident. He developed a worsening kyphoscoliosis that ultimately aortic dissection, which prompted to re-evaluation and genetic required corrective orthopedic investigation of the study patient testing for a panel of 17 genes for surgery at age 13 years. with echocardiography; this test aortopathies. Genetic testing in our When the study patient was 15 revealed persistent moderate patient confirmed a mutation in years old, his father experienced an aortic dilation. This finding led TGFBR1, consistent with Loeys-Dietz FIGURE 4 Craniofacial appearance. Abnormalities include: A, partial right eye ptosis; B and C, microretrognathia; B and C, low-set ears; and C, malar hypoplasia and crumpled ear helices. Downloaded from www.aappublications.org/news by guest on October 1, 2021 PEDIATRICS Volume 139 , number 3 , March 2017 e3 syndrome type 1. The mutation Marfan syndrome are rarely seen features described as typical for identified was in exon 4, a nucleotide with Beals syndrome. Loeys-Dietz syndrome: strabismus, substitution at c.722C>T, resulting Loeys-Dietz is a recently discovered a high arched palate, a broad uvula, in an amino acid alteration of genetic syndrome that also shares cervical vertebral abnormalities, p.Ser241Leu. Results of genetic features with Beals and Marfan knee laxity, talipes equinovarus, and
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