Non-compaction cardiomyopathy in a 5-generation Chinese family.
- Author:
Zhong-ru DING
1
;
Guo-ming HUANG
;
Hong-ru WANG
;
Xiao-wen TU
;
Chuan-yin LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Asian Continental Ancestry Group; genetics; Cardiomyopathies; epidemiology; genetics; Child; Child, Preschool; Death, Sudden, Cardiac; Female; Humans; Infant; Male; Middle Aged; Mutation; Pedigree; Ventricular Dysfunction, Left; Young Adult
- From: Chinese Journal of Cardiology 2012;40(4):323-326
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEFamilial left ventricular noncompaction(LVNC) is quite rare. We screened for the presence of LVNC and related clinical characteristics in a 5-generation Chinese family.
METHODSComprehensive 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.
RESULTSSudden cardiac death (including 1 occurred while following-up) was reported in 7 family members (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.
CONCLUSIONPrimary familial investigation reveals the matrilineal inheritance 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.