Contemporary management of congenital malformations of the heart in infants with Ellis - Van Creveld syndrome: A report of nine cases

Cardiology in the Young

Volumn 21, Issue 2, 2011, Pages 145-152

  O'Connor, Matthew J ^a   Rider, Nicholas L ^b,c   Thomas Collins II, R ^a   Hanna, Brian D ^a   Holmes Morton, D ^b,c,d   Strauss, Kevin A ^b,c,d  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b Clinic for Special Children   (United States)

^c LANCASTER GENERAL HOSPITAL   (United States)

^d FRANKLIN AND MARSHALL COLLEGE   (United States)

Author keywords

Amish; cardiac; surgery

Indexed keywords

AORTA VALVE ATRESIA; AORTA VALVE DISEASE; ARTICLE; CAUSE OF DEATH; CLINICAL ARTICLE; DISEASE ASSOCIATION; ELLIS VAN CREVELD SYNDROME; HEART ATRIUM SEPTUM DEFECT; HEART SURGERY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; INFANT; MITRAL VALVE ATRESIA; NEWBORN MORBIDITY; OUTCOME ASSESSMENT; POSTOPERATIVE PERIOD; RESPIRATORY FAILURE; RETROSPECTIVE STUDY; SURGICAL MORTALITY; SURVIVAL TIME; TRACHEOSTOMY; TREATMENT INDICATION; COMPARATIVE STUDY; CONGENITAL HEART MALFORMATION; ECHOCARDIOGRAPHY; FOLLOW UP; METHODOLOGY; MORTALITY; NEWBORN; PRESCHOOL CHILD; SURVIVAL RATE; TIME; TREATMENT OUTCOME; UNITED STATES;

CARDIAC SURGICAL PROCEDURES; CHILD, PRESCHOOL; ECHOCARDIOGRAPHY; ELLIS-VAN CREVELD SYNDROME; FOLLOW-UP STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; PENNSYLVANIA; RETROSPECTIVE STUDIES; SURVIVAL RATE; TIME FACTORS; TREATMENT OUTCOME;

EID: 79960127530     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951110001587     Document Type: Article

References (30)

1. Ellis RWB, van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia, and congenital morbus cordis: report of three cases. Arch Dis Child 1940; 15: 65-84.
2. McKusick VA, Egeland JA, Eldridge R, Krusen DE. Dwarfism in the Amish I. The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp 1964; 115: 306-336.
3. Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis 2007; 2: 27-31.
4. Abeles AI, Tobias JD. Anesthetic implications of Ellis-van Creveld syndrome. J Clin Anesth 2008; 20: 618-621.
5. McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Genet 2000; 24: 203-204. (Pubitemid 30132181)
6. Ruiz-Perez VL, Ide SE, Strom TM, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000; 24: 283-286. (Pubitemid 30132199)
7. Ruiz-Perez VL, Tompson SW, Blair HJ, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellisvan Creveld syndrome. Am J Hum Genet 2003; 72: 728-732. (Pubitemid 36255972)
8. Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, et al. Evc is a positive mediator of Ihh-regulated bone growth that localizes at the base of chondrocyte cilia. Development 2007; 134: 2903-2912. (Pubitemid 47386903)
9. Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet 2009; 151C: 341-351.
10. Digilio MC, Marino B, Ammirati A, Borzaga U, Giannotti A, Dallapiccola B. Cardiac malformations in patients with oralfacial- skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet 1999; 84: 350-356. (Pubitemid 29211396)
11. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet 1999; 85: 140-146. (Pubitemid 29288339)
12. De Biase L, Di Ciommo V, Ballerini L, Bevilacqua M, Marcelletti C, Marino B. Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down's syndrome. J Thorac Cardiovasc Surg 1986; 91: 467-469. (Pubitemid 16118010)
13. McLaughlin VV, Archer SL, Badesch DB, et al. ACCF/AHA 2009 expert consensus document on pulmonary hypertension: a report of the American College of Cardiology Foundation task force on expert consensus documents and the American Heart Association, developed in collaboration with the American College of Chest Physicians, American Thoracic Society, Inc., and the Pulmonary Hypertension Association. J Am Coll Cardiol 2009; 53: 1573-1619.
14. Formigari R, Di Donato RM, Gargiulo G, et al. Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome. Ann Thorac Surg 2004; 78: 666-672. (Pubitemid 38980794)
15. Formigari R, Michielon G, Digilio MC, et al. Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg 2009; 35: 606-614.
16. Haller JA, Colombani PM, Humphries CT, Azizkhan RG, Loughlin GM. Chest wall constriction after too extensive and too early operations for pectus excavatum. Ann Thorac Surg 1996; 61: 1618-1624.
17. Robicsek F, Fokin AA. How not to do it: restrictive thoracic dystrophy after pectus excavatum repair. Interact Cardiovasc Thorac Surg 2004; 3: 566-568. (Pubitemid 39574489)
18. Phillips CI, Stokoe NL, Bartholomew RS. Asphyxiating thoracic dystrophy (Jeune's disease) with retinal aplasia: a sibship of two. J Pediatr Ophthalmol Strabismus 1979; 16: 279-283. (Pubitemid 9253793)
19. Brueton LA, Dillon MJ,Winter RM. Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? J Med Genet 1990; 27: 252-255.
20. Yang SS, Langer LO, Cacciarelli A, et al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short ribpolydactyly syndrome spectrum: a clinicopathologic study. Am J Med Genet Suppl 1987; 3: 191-207.
21. Tahernia AC, Stamps P. "Jeune syndrome" (asphyxiating thoracic dystrophy). Report of a case, a review of the literature, and an editor's commentary. Clin Pediatr (Phila) 1977; 16: 903-908. (Pubitemid 8210805)
22. Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. Eur J Hum Genet 2000; 8: 645-648. (Pubitemid 30639373)
23. Mitchell FN, Waddell WW. Ellis-van Creveld syndrome a report of two cases in siblings. Acta Paediatr 1958; 47: 142-151.
24. Dagoneau N, Goulet M, Genevieve D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short ribpolydactyly syndrome type III. Am J Hum Genet 2009; 84: 706-711.
25. Digilio MC, Marino B, Giannotti A, Dallapiccola B, Opitz JM. Specific congenital heart defects in RSH/smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. Birth Defects Res A Clin Mol Teratol 2003; 67: 149-153. (Pubitemid 37238054)
26. Tüysüz B, Baris S, Aksoy F, Madazli R, Üngü r S, Sever L. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: evaluation and classification of 13 patients. Am J Med Genet Part A 2009; 149A: 1727-1733.
27. de Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr 2010; 169: 77-88.
28. Cetta F, Minich LL, Edwards WD, Dearani JA, Puga FJ. Atrioventricular septal defects. In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF (eds). Moss and Adams' Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult, 7th edn. Lippincott Williams and Wilkins, Philadelphia, 2008; 646-667.
29. White AC, Lavine KJ, Ornitz DM. FGF9 and SHH regulate mesenchymal vegfa expression and development of the pulmonary capillary network. Development 2007; 134: 3743-3752. (Pubitemid 350104383)
30. Hosein RBM, Clarke AJB, McGuirk SP, et al. Factors influencing early and late outcome following the Fontan procedure in the current era. The 'Two Commandments'? Eur J Cardiothorac Surg 2007; 31: 344-353. (Pubitemid 46329389)