Echocardiographic features of genetic diseases: Part 4. Connective tissue

Journal of the American Society of Echocardiography

Volumn 13, Issue 4, 2000, Pages 325-330

  Alizad, Azra ^a   Seward, James B ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; CONNECTIVE TISSUE DISEASE; ECHOCARDIOGRAPHY; EHLERS DANLOS SYNDROME; GENETIC DISORDER; HUMAN; MARFAN SYNDROME; MORQUIO SYNDROME; REVIEW;

EID: 0034003028     PISSN: 08947317     EISSN: None     Source Type: Journal    
DOI: 10.1067/mje.2000.102344     Document Type: Article

References (28)

1. DW Hollister Disorders of connective tissue 19th ed AM Rudolph JIE Hoffman CD Rudolph Rudolph’s pediatrics 1991 Appleton & Lange Norwalk, CT 410 416
2. F Bellenot S Boisgard B Kantelip Type IV Ehlers-Danlos syndrome with isolated arterial involvement Ann Vasc Surg 4 1990 15 19
3. DM Milewicz AM Witz AC Smith DK Manchester G Waldstein PH. Byers Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring Am J Hum Genet 53 1993 62 70
4. NP Burrows AC Nicholls JR Yates AJ Richards FM. Pope Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes Clin Exp Dermatol 22 1997 174 176
5. DS Greenspan H Northrup KS Au COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II Genomics 25 1995 737 739
6. T Takahashi T Koide H Yamaguchi Ehlers-Danlos syndrome with aortic regurgitation, dilatation of the sinuses of Valsalva, and abnormal dermal collagen fibrils Am Heart J 123 1992 1709 1712
7. M Mishra JB Chambers R. Grahame Ventricular septal aneurysm in a case of Ehlers-Danlos syndrome Int J Cardiol 36 1992 369 370
8. AE. Lin The value of aortic valve and aortic arch imaging in the identification of genetic syndromes Echocardiography 13 1996 447 457
9. JE Deanfield BJ Gersh DD. Mair Adult congenital heart disease 8th ed RC Schlant RW Alexander The heart arteries and veins. 1994 McGraw-Hill New York 1829 1854
10. RC. Schlant Congenital heart disease 3rd ed JH Stein Internal medicine. 1990 Little, Brown and Company Boston 199 214
11. MEM Pierpont JH Moller Cardiac manifestations of systemic disease 4th ed FH Adams GC Emmanouilides TA Riemenschneider Moss’ heart disease in infants, children, and adolescents 1989 Williams & Wilkins Baltimore 778 801
12. J Hwa JG Richards H Huang The natural history of aortic dilatation in Marfan syndrome Med J Aust 158 1993 558 562
13. AC Tahernia Cardiovascular anomalies in Marfan’s syndrome: the role of echocardiography and beta-blockers South Med J 86 1993 305 310
14. T Geva SP Sanders MS Diogenes S Rockenmacher R. Van Praagh Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome Am J Cardiol 65 1990 1230 1237
15. ES Crawford JS Coselli Marfan’s syndrome: combined composite valve graft replacement of the aortic root and transaortic mitral valve replacement Ann Thorac Surg 45 1988 296 302
16. T Geva J Hegesh M. Frand The clinical course and echocardiographic features of Marfan’s syndrome in childhood Am J Dis Child 141 1987 1179 1182
17. CW Pan CC Chen SP Wang TL Hsu BN Chiang Echocardiographic study of cardiac abnormalities in families of patients with Marfan’s syndrome J Am Coll Cardiol 6 1985 1016 1020
18. S Tayel TW Kurczynski M Levine Marfanoid children: etiologic heterogeneity and cardiac findings Am J Dis Child 145 1991 90 93
19. MH el Habbal Cardiovascular manifestations of Marfan’s syndrome in the young Am Heart J 123 1992 752 757
20. MA Seliem CE Duffy SS Gidding K Berdusis DW Benson Jr. Echocardiographic evaluation of the aortic root and mitral valve in children and adolescents with isolated pectus excavatum: comparison with Marfan patients Pediatr Cardiol 13 1992 20 23
21. IA Simpson MA de Belder T Treasure AJ Camm CW Pumphrey Cardiovascular manifestations of Marfan’s syndrome: improved evaluation by transoesophageal echocardiography Br Heart J 69 1993 104 108
22. M Algom Z Schlesinger J Madjar S Tal D Krakowsky K. Fried Cardiovascular, skeletal and ophthalmologic manifestations in patients with Marfan’s syndrome Isr J Med Sci 25 1989 261 263
23. MJ Roman RB Devereux R Kramer-Fox MC. Spitzer Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome Am J Cardiol 63 1989 317 321
24. R Pini MJ Roman R Kramer-Fox RB. Devereux Mitral valve dimensions and motion in Marfan patients with and without mitral valve prolapse: comparison to primary mitral valve prolapse and normal subjects Circulation 80 1989 915 924
25. I Tzanova M Schwarz JP. Jantzen Securing the airway in children with the Morquio-Brailsford syndrome Anaesthesist 42 1993 477 481 German
26. E Baker XH Guo AM Orsborn The Morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3 Am J Hum Genet 52 1993 96 98
27. L Pagni L Bartolozzi D. Giacchetti Mucopolysaccharidosis: a case report of Morquio’s type-A disease (MPS IV-A) Minerva Stomatol 41 1992 527 533 Italian
28. RM John D Hunter RH. Swanton Echocardiographic abnormalities in type IV mucopolysaccharidosis Arch Dis Child 65 1990 746 749