J Korean Soc Echocardiogr.  1995 Dec;3(2):209-215. 10.4250/jkse.1995.3.2.209.

A Case of Turner's Syndrome(46, XXqi) Associated with Large Atrial Septal Defect and Mitral Valve Prolapse

• Baek JC
• Kim W
• Kang HS
• Lee S
• Meong JI
• Gill GC
• Park JH
• Cho JG
• Park JC
• Kang JC

• KMID: 2410424
• DOI: http://doi.org/10.4250/jkse.1995.3.2.209

Abstract

We descrive a 23-year-old female of 46, XXqi Turner's syndrome associated with large atrial sepatal defect(secundum type) and mitral valve prolapse who was admitted due to amenorrhea, sexual infantilism and exertional dyspnea. This patient had only one spontaneous menstrual period at the age of 15 and had a short stature without webbed neck. Chromosomal aberrations cause primarily structural defects of cardiovasculaqr system, and a variety of structural aberrations involving the X chromosome and cause partial or complete Turner's syndrome. In Turner's syndrome, bicuspid aortic valve or coarctaton of aorta is frequently combined, also aortic root dilatation, partial anomalous venous drainage, hypoplastic left heart and ventricular septal defect, atrial septal defect has been reported. However, this patient had not abnormalities in aortic valve and whole aorta. Atrial septal defect simultaneously with mitral valve prolapse in 46 XXqi Turner's syndrome have not been reported in Korea. We report this case with a brief review of the literature.

Keyword

Turner's syndrom(46 XXqi); Atrial septal defect; Mitral valve prolapse

MeSH Terms

Amenorrhea
Aorta
Aortic Valve
Bicuspid
Chromosome Aberrations
Dilatation
Drainage
Dyspnea
Female
Heart
Heart Septal Defects, Atrial*
Heart Septal Defects, Ventricular
Humans
Korea
Mitral Valve Prolapse*
Mitral Valve*
Neck
Sexual Infantilism
Turner Syndrome
X Chromosome
Young Adult

Figure

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  Fig. 1. 23-year-old phenotypic female patient had short stature and sexual infantilism.

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  Fig. 2. Chromosomal study showed 46 XXqi karyotype.

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  Fig. 3. Chest PA showed cardiomegaly and increased pulmonary vascularity in both lung field.

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  Fig. 4. EKG showed sinus tachycardia, RVH, and inferior wall ischemia.

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  Fig. 5. The apical 4 chamber view of echocardiography showed large ASD and MV & TV prolapse.

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  Fig. 6. The parasternal long axis view of echocardiography showed mitral valve prolapse and small pericardial effusion.

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  Fig. 7. Normal aortography.

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  Fig. 8. Chest PA showed diminished pulmonary vascularity and cardiac size after operation.

Reference

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