Busjahn Christoph A, Schulz-Menger Jeanette, Abdel-Aty Hassan, Rudolph Andre, Jordan Jens, Luft Friedrich C, Busjahn Andreas
Medical Faculty of the Charité, Franz-Volhard Clinic, HELIOS Klinikum-Berlin, Experimental and Clinical Research Center and Max Delbrueck Center for Molecular Medicine, Berlin, Germany.
Eur Heart J. 2009 Jul;30(13):1643-7. doi: 10.1093/eurheartj/ehp142. Epub 2009 Apr 30.
Earlier studies in monozygotic (MZ) and dizygotic (DZ) twins showed genetic variance on echocardiographically determined heart size. However, cardiovascular magnetic resonance (CMR) is more precise and reproducible. We performed a twin study relying on CMR, focusing on left ventricular (LV) mass and papillary muscle, since there are no genetic reports on this structure.
We measured left heart dimensions of 25 healthy twin pairs with a 1.5T MR scanner, analysed with the mass, Medis Software. We performed heritability analysis and tests for genetic influences shared between cardiac structures. We found that CMR-based heritability estimates (h(2) = 84%) substantially exceeded estimates based on echocardiography. We also found significant genetic influence on papillary muscle mass (h(2) = 82%). Bivariate analysis of papillary and LV muscle mass revealed significant genetic influences shared by both phenotypes (genetic correlation 0.59) and suggested an additional genetic component specific to papillary muscle. We observed correlations between body mass index, surface area, and systolic blood pressure with cardiac dimensions, even in this small study. Environmental influences were relevant as well, indicating reciprocal influences on papillary vs. LV muscle mass.
Cardiovascular magnetic resonance, even with few subjects, allows a genetic assessment of cardiac structures that cannot be attained with echocardiography. Hitherto fore unappreciated relationships can be uncovered by this method.
早期对单卵(MZ)和双卵(DZ)双胞胎的研究表明,超声心动图测定的心脏大小存在遗传变异。然而,心血管磁共振成像(CMR)更为精确且可重复。由于此前尚无关于该结构的遗传报告,我们开展了一项基于CMR的双胞胎研究,重点关注左心室(LV)质量和乳头肌。
我们使用1.5T磁共振扫描仪测量了25对健康双胞胎的左心尺寸,并使用Medis软件分析其质量。我们进行了遗传力分析以及心脏结构间共享遗传影响的测试。我们发现,基于CMR的遗传力估计值(h(2)=84%)大幅超过基于超声心动图的估计值。我们还发现乳头肌质量存在显著的遗传影响(h(2)=82%)。乳头肌与左心室肌质量的双变量分析显示,两种表型存在显著的共享遗传影响(遗传相关性为0.59),并提示存在特定于乳头肌的额外遗传成分。即使在这项小型研究中,我们也观察到体重指数、体表面积和收缩压与心脏尺寸之间存在相关性。环境影响也很重要,表明对乳头肌与左心室肌质量存在相互影响。
心血管磁共振成像,即使样本量较少,也能对超声心动图无法实现的心脏结构进行遗传评估。通过这种方法可以揭示此前未被认识到的关系。