Non-compaction cardiomyopathy in a 5-generation Chinese family / 中华心血管病杂志
Chinese Journal of Cardiology
; (12): 323-326, 2012.
Article
in Zh
| WPRIM
| ID: wpr-275050
Responsible library:
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ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>Sudden 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.</p><p><b>CONCLUSION</b>Primary 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.</p>
Full text:
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Index:
WPRIM
Main subject:
Pedigree
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Epidemiology
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Death, Sudden, Cardiac
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Ventricular Dysfunction, Left
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Asian People
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Genetics
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Mutation
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Cardiomyopathies
Limits:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Language:
Zh
Journal:
Chinese Journal of Cardiology
Year:
2012
Type:
Article