Fatal cardiac anomaly of unguarded mitral orifice with asplenia syndrome

详细信息    查看全文

• 作者：Kanta Kishi ; MD ; PhD^a ; ^{kantakishi2004@yahoo.co.jp} ; Hiroshi Katayama ; MD ; PhD ; FJCC^a ; Noriyasu Ozaki ; MD^a ; Yutaka Odanaka ; MD^a ; Midori Masuda ; MD^a ; Shintaro Nemoto ; MD ; PhD^b ; Hidetoshi Satomi ; MD^c ; Yoshikatsu Okada ; MD ; PhD^c ; Hiroshi Tamai ; MD ; PhD^a
• 关键词：Unguarded mitral orifice ; Asplenia syndrome ; Dysplastic tricuspid valve ; Double outlet right ventricle ; Atrioventricular valve regurgitation
• 刊名：Journal of Cardiology Cases
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：15
• 期：1
• 页码：6-9
• 全文大小：1102 K
• 卷排序：15

文摘

We report the case of a newborn baby with an unguarded mitral orifice associated with asplenia syndrome, double-outlet right ventricle, dysplastic tricuspid valve, and pulmonary stenosis. This case was accompanied by severe tricuspid regurgitation and severe right ventricular hypertrophy. The patient had a fatal clinical course due to severe hypoxia and congestive heart failure. Unguarded mitral orifice is a rare disease in which there has been no previous report of lethal clinical course during the neonatal period. Prior reports stated that unguarded mitral orifice was a new constellation of defects and that its etiology and embryology could be classified in the same category because of similar associated malformations of double-outlet right ventricle and pulmonary stenosis or atresia. However, the present case was diagnosed on autopsy as also having asplenia syndrome. Therefore, it is possible that the genetic etiology of unguarded mitral orifice in this case was different from cases of non-heterotaxy.<Learning objective: Unguarded mitral orifice is a rare disease that might be associated with asplenia syndrome and dysplastic tricuspid valve. If unguarded mitral orifice is associated with such defects, the clinical course can be fatal. Therefore, when this diagnosis is recognized, the physician should explain the possibility of neonatal death and plan the treatment of such a case to include grief therapy for the family.>