A case of LEOPARD syndrome with cor triatriatum.
- Author:
Seong Goo LEE
1
;
So Yeon LEE
;
So Hi IM
;
Ki Dong YOO
;
Sang Hong BAEK
;
Chul Min KIM
;
Gyu Bo CHOI
Author Information
1. Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea. yookd@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
LEOPARD syndrome;
Lentigo;
Cor triatriatum
- MeSH:
Adult;
Bundle-Branch Block;
Cardiomyopathy, Hypertrophic;
Cor Triatriatum*;
Deafness;
Electrocardiography;
Female;
Genitalia;
Heart;
Humans;
Hypertelorism;
Lentigo;
LEOPARD Syndrome*;
Panthera*;
Pulmonary Valve Stenosis
- From:Korean Journal of Medicine
2003;65(1):99-103
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The LEOPARD syndrome is an acronym and serves as a mnemonic for the features of this autosomal dominant syndrome : L - lentigines (multiple), E - electrocardiographic conduction abnormalities, O - ocular hypertelorism, P - pulmonary stenosis, A - abnormalities of genitalia, R - retardation of growth, and D - deafness (sensoryneural). The main features of the syndrome are multiple lentigines in combination with congenital heart malformations. These frequently accompanied cardiac abnormalities are pulmonary stenosis, hypertrophic cardiomyopathy, and various ECG abnormalities. It is advisable to make cardiac evaluation in a patient with LEOPARD syndrome in spite of no clinical symptoms or signs, since cardiac dysfunction may be progressive or developed later. We experienced a case of this syndrome in a 31 year-old female, presenting multiple lentigines, ocular hypertelorism, and congenital cardiac abnormalities of incomplete right bundle branch block and cor triatriatum. We report the case with brief literature review.
