Li Yuan1, Mingxing Xie1, Tsung O Cheng2, Xinfang Wang1, Feng Zhu3, Xiangquan Kong4, Devina Ghoorah5. 1. 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. 2. 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. 3. Department of Cardiology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, People's Republic of China. 4. 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. 5. Radiology Department, Flacq Hospital, Ministry of Life & Quality of Life, Mauritius.
Abstract
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.
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.
Authors: Xiaoxiao Zhang; Li Yuan; Linli Qiu; Yali Yang; Qing Lv; Lin Li; Jing Wang; Lin He; Li Zhang; Xinfang Wang; Mingxing Xie; Xu Yu Jin Journal: Front Med Date: 2016-12-23 Impact factor: 4.592