Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome

被引：17

作者：

Bekir, NA ^{[1
]}

Güngör, K ^{[1
]}

机构：

[1] Gaziantep Univ, Fac Med, Dept Ophthalmol, TR-27070 Kolejtepe, Gaziantep, Turkey

来源：

ACTA OPHTHALMOLOGICA SCANDINAVICA | 2000年 / 78卷 / 01期

关键词：

Axenfeld-Rieger syndrome; secondary glaucoma; interatrial aneurysm; atrial septal defect;

D O I：

10.1034/j.1600-0420.2000.078001101.x

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose: The aim of this presentation is to report a rare association between interatrial aneurysm and Axenfeld-Rieger syndrome. Methods: We present a 20-year-old girl with Axenfeld-Rieger syndrome, in whom the diagnosis was confirmed by the facial dysmorphic appearance, slit-lamp examination, applanation tonometer, gonioscopy, and cardiovascular examination, Results: The patient had prominent Schwalbe's line in all quadrants, iris atrophy, and secondary glaucoma in both eyes. The echocardiogram revealed an atrial septal defect with interatrial aneurysm. Conclusion: This is the first case report of coexisting Axenfeld-Rieger syndrome and interatrial aneurysm. We would like to stress that aneurysm can be a potential occult source of cerebral embolism.

引用

页码：101 / 103

页数：3

共 15 条

[1]

ALKEMADE PPH, 1969, DYSGENESIS MESODERMA, P155

[2] Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss - A possible new genetic syndrome [J].

Cunningham, ET ;

Eliott, D ;

Miller, NR ;

Maumenee, IH ;

Green, WR .

ARCHIVES OF OPHTHALMOLOGY, 1998, 116 (01) :78-82

[3] DELETION FROM LONG ARM OF CHROMOSOME 4 (46,XX,4Q-) ASSOCIATED WITH CONGENITAL ANOMALIES [J].

GOLBUS, MS ;

CONTE, FA ;

DAENTL, DL .

JOURNAL OF MEDICAL GENETICS, 1973, 10 (01) :83-85

[4]

*GRUPP IMER, 1997, IMER NEWSL, P17

[5]

Haye C, 1965, Arch Ophtalmol Rev Gen Ophtalmol, V25, P621

[6] THE NEURAL CREST AS A POSSIBLE PATHOGENETIC FACTOR IN COARCTATION OF THE AORTA AND BICUSPID AORTIC-VALVE [J].

KAPPETEIN, AP ;

GITTENBERGERDEGROOT, AC ;

ZWINDERMAN, AH ;

ROHMER, J ;

POELMANN, RE ;

HUYSMANS, HA .

JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, 1991, 102 (06) :830-836

[7] Cardiovascular anomaly in Rieger syndrome: Heterogeneity or contiguity? [J].

Mammi, I ;

De Giorgio, P ;

Clementi, M ;

Tenconi, R .

ACTA OPHTHALMOLOGICA SCANDINAVICA, 1998, 76 (04) :509-512

[8] LINKAGE OF RIEGER SYNDROME TO THE REGION OF THE EPIDERMAL GROWTH-FACTOR GENE ON CHROMOSOME-4 [J].

MURRAY, JC ;

BENNETT, SR ;

KWITEK, AE ;

SMALL, KW ;

SCHINZEL, A ;

ALWARD, WLM ;

WEBER, JL ;

BELL, GI ;

BUETOW, KH .

NATURE GENETICS, 1992, 2 (01) :46-49

[9] IMPROVED MORPHOLOGICAL CHARACTERIZATION OF ATRIAL SEPTAL ANEURYSM BY TRANSESOPHAGEAL ECHOCARDIOGRAPHY - RELATION TO CEREBROVASCULAR EVENTS [J].

SCHNEIDER, B ;

HANRATH, P ;

VOGEL, P ;

MEINERTZ, T .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1990, 16 (04) :1000-1009

[10] AXENFELD-RIEGER SYNDROME - A SPECTRUM OF DEVELOPMENTAL DISORDERS [J].

SHIELDS, MB ;

BUCKLEY, E ;

KLINTWORTH, GK ;

THRESHER, R .

SURVEY OF OPHTHALMOLOGY, 1985, 29 (06) :387-409

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