Case report of WHIM syndrome with cardiac malformation as the first symptom
10.3760/cma.j.cn101070-20191130-01195
- VernacularTitle:以心脏杂音为首发症状的WHIM综合征1例
- Author:
Na LIU
;
Huyong ZHENG
;
Linya WANG
;
Xueling ZHENG
;
Hairui HU
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(1):64-66
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a WHIM syndrome child with cardiac malformation as the first symptom in December 2017 in Beijing Children′s Hospital Affiliated to Capital Medical University was retrospectively analyzed.A 5-year-old female patient presented with cardiac malformation, neutropenia and recurrent infection.Heterozygous mutation(c.1000C>T) was detected in CXCR4 gene.Echocardiography and CT exhibited cardiac malformation.WHIM syndrome is very rare, and it was the first case with cardiac malformation as the first manifestation in China, thus hoping to improve clinicians′ understanding of this disease.
