Left ventricular noncompaction associated with hypertrophic cardiomyopathy: echocardiographic diagnosis and genetic analysis of a new pedigree in China.
BACKGROUND
Hypertrophic cardiomyopathy (HCM) and left ventricular noncompaction (LVNC) are both genetically determined and familial diseases that possess variable but overlapping genetic defects. Previous literature has mostly reported their occurrences as either separate disorders in different members of a family or coexisting entities in sporadic cases rather than familial cases. This study explored the echocardiographic diagnostic values and familial features in a family with coexistence of HCM and LVNC.


METHODS
A four-generation family comprised of 30 members was studied; 28 members underwent familial screening by routine transthoracic echocardiography (TTE), contrast echocardiography (CE), and/or cardiac magnetic resonance imaging (cMRI). Echocardiographic and cMRI findings were then compared.


RESULTS
Four members (13.3%) died of sudden death or heart failure. Eleven members (39%) suffered from HCM, LVNC or both. There were 13 left ventricular hypertrophic segments among the echocardiographic images of 9 locally archived patients, including septal, inferior and anterior wall segments (8, 3, 2 respectively) as well as 20 noncompaction segments, including lateral, apical, anterior, antero-septal and inferior wall segments (8, 5, 4, 2, 1 respectively). Left atrial dilatation and diastolic dysfunction were significant in these subjects. Findings from TTE and CE were in accordance with those from cMRI in lesion locations. CE provided more information about noncompaction segments located in the antero-septum and near field than TTE.


CONCLUSIONS
HCM and LVNC coexist in one Chinese family, with overlapping phenotypes and different ages, clinical manifestations and multimodality imaging findings. TTE is an excellent tool to diagnose HCM and LVNC with supplementation by CE.
Department of Ultrasonography, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Hubei Provincial Key Laboratory of Molecular Imaging, Wuhan 430022, People's Republic of China.
Li
L
Yuan
Department of Ultrasonography, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Hubei Provincial Key Laboratory of Molecular Imaging, Wuhan 430022, People's Republic of China.
Mingxing
M
Xie
Department of Ultrasonography, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Hubei Provincial Key Laboratory of Molecular Imaging, Wuhan 430022, People's Republic of China; Department of Medicine, George Washington University Medical Center, 2150 Pennsylvania Avenue, N.W., Washington, D.C. 20037, USA. Electronic address: tcheng@mfa.gwu.edu.
Tsung O
TO
Cheng
Department of Ultrasonography, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Hubei Provincial Key Laboratory of Molecular Imaging, Wuhan 430022, People's Republic of China.
Xinfang
X
Wang
Department of Cardiology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, People's Republic of China.
Feng
F
Zhu
Department of Radiology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Hubei Provincial Key Laboratory of Molecular Imaging, Wuhan 430022, People's Republic of China.
Xiangquan
X
Kong
Radiology Department, Flacq Hospital, Ministry of Life & Quality of Life, Mauritius.
Devina
D
Ghoorah
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005820:Genetic Testing; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014463:Ultrasonography
Contrast echocardiography; Familial screening; Genetics; Hypertrophic cardiomyopathy; Left ventricular noncompaction