Non-compaction cardiomyopathy in a 5-generation Chinese family
10.3760/cma.j.issn.0253-3758.2012.04.013
- VernacularTitle:高致死性心肌致密化不全一家系报道
- Author:
Zhong-Ru DING
1
;
Guo-Ming HUANG
;
Hong-Ru WANG
;
Xiao-Wen TU
;
Chuan-Yin LIU
Author Information
1. 解放军第94医院
- Keywords:
Cardiomyopathies;
Mutation;
Matrilineal hereditarily
- From:
Chinese Journal of Cardiology
2012;40(4):323-326
- CountryChina
- Language:Chinese
-
Abstract:
Objective Familial left ventricular noncompaction( LVNC ) is quite rare.We screened for the presence of LVNC and related clinical characteristics in a 5-generation Chinese family.Methods Comprehensive medical history was obtained from 40 members in a 5-generation Chinese family.Systemic clinical investigations including echocardiography (UCG),routine and ambulatory electrocardiogram (ECG),X-rays were performed in 33 family members.Cardiovascular magnetic resonance image (MRI) was carried out in 2 family members.Results Sudden cardiac death (including 1 occurred while following-up)was reported in 7 family mcmbers( 17.5％,7/40 ).LVNC was diagnosed in 10 out of the 33 family members (30.3％ )and heart enlargement was evidenced in 3,heart failure in 2,complete left branch conductive block in 3,serious sick sinus syndrome (SSS) treated with permanent pacemaker implantation in 1 and paroxysmal supraventricular tachycardia treated with radiofrequency ablation procedure in 1 out of these 10 LVNC patients.Primary pedigree analysis revealed that offspring from female patients were at the highest risk to be affected by LVNC ( 15/18,83.3％ ) while LVNC was absent in offspring of male LVNC patients (0/8).Moreover,clinical heart failure symptoms and arrhythmias were more severe in female LVNC patients than in male LVNC patients.Conclusion Primary familial investigation reveals the matrilineal inheritauce of familial LVNC in this 5-generation Chinese family,further investigations are warranted to explore the potential mutations in the mitochondrial genome responsible for LVNC in this family.
