Our official English website, www.x-mol.net, welcomes your
feedback! (Note: you will need to create a separate account there.)
Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study.
Scientific Reports ( IF 3.8 ) Pub Date : 2019-09-26 , DOI: 10.1038/s41598-019-50458-9 Kasper Kyhl 1, 2 , Tóra Róin 1 , Allan Lund 3 , Niels Vejlstrup 2, 4 , Per Lav Madsen 5, 6 , Thomas Engstrøm 4, 6 , Jan Rasmussen 1, 4
Scientific Reports ( IF 3.8 ) Pub Date : 2019-09-26 , DOI: 10.1038/s41598-019-50458-9 Kasper Kyhl 1, 2 , Tóra Róin 1 , Allan Lund 3 , Niels Vejlstrup 2, 4 , Per Lav Madsen 5, 6 , Thomas Engstrøm 4, 6 , Jan Rasmussen 1, 4
Affiliation
|
Primary carnitine deficiency (PCD) not treated with L-Carnitine can lead to sudden cardiac death. To our knowledge, it is unknown if asymptomatic patients treated with L-Carnitine suffer from myocardial scarring and thus be at greater risk of potentially serious arrhythmia. Cardiac evaluation of function and myocardial scarring is non-invasively best supported by cardiac magnetic resonance imaging (CMR) with late gadolinium enhancement (LGE). The study included 36 PCD patients, 17 carriers and 17 healthy subjects. A CMR cine stack in the short-axis plane were acquired to evaluate left ventricle (LV) systolic and diastolic function and a similar LGE stack to evaluate myocardial scarring and replacement fibrosis. LV volumes and ejection fraction were not different between PCD patients, carriers and healthy subjects. However, LV mass was higher in PCD patients with the severe homozygous mutation, c.95 A > G (p = 0.037; n = 17). Among homozygous PCD patients there were two cases of unexplained myocardial scarring and this is in contrast to no myocardial scarring in any of the other study participants (p = 0.10). LV mass was increased in PCD patients. L-carnitine supplementation is essential in order to prevent potentially lethal cardiac arrhythmia and serious adverse cardiac remodeling.
中文翻译：
原发性肉碱缺乏症患者的心脏功能和无法解释的心肌瘢痕发生率-心脏磁共振研究。
未经左旋肉碱治疗的原发性肉碱缺乏症（PCD）可能会导致心脏猝死。据我们所知，使用L-肉碱治疗的无症状患者是否会出现心肌瘢痕形成并因此有更大的潜在严重心律失常的风险，这一点尚不清楚。心脏磁共振成像（CMR）和晚期g增强（LGE）最好地支持对功能和心肌瘢痕的心脏评估。该研究包括36名PCD患者，17名携带者和17名健康受试者。采集了短轴平面的CMR电影堆栈以评估左心室（LV）的收缩和舒张功能，并获得了类似的LGE堆栈以评估心肌瘢痕形成和置换性纤维化。PCD患者，携带者和健康受试者之间的LV体积和射血分数无差异。然而，具有严重纯合突变的PCD患者的LV质量更高，c.95 A> G（p = 0.037； n = 17）。在纯合PCD患者中，有2例原因不明的心肌瘢痕形成，这与其他任何研究参与者均无心肌瘢痕形成相反（p = 0.10）。PCD患者的LV质量增加。补充左旋肉碱对于预防潜在的致命性心律失常和严重的不良心脏重塑至关重要。
更新日期：2019-09-26
中文翻译：
原发性肉碱缺乏症患者的心脏功能和无法解释的心肌瘢痕发生率-心脏磁共振研究。
未经左旋肉碱治疗的原发性肉碱缺乏症（PCD）可能会导致心脏猝死。据我们所知，使用L-肉碱治疗的无症状患者是否会出现心肌瘢痕形成并因此有更大的潜在严重心律失常的风险，这一点尚不清楚。心脏磁共振成像（CMR）和晚期g增强（LGE）最好地支持对功能和心肌瘢痕的心脏评估。该研究包括36名PCD患者，17名携带者和17名健康受试者。采集了短轴平面的CMR电影堆栈以评估左心室（LV）的收缩和舒张功能，并获得了类似的LGE堆栈以评估心肌瘢痕形成和置换性纤维化。PCD患者，携带者和健康受试者之间的LV体积和射血分数无差异。然而，具有严重纯合突变的PCD患者的LV质量更高，c.95 A> G（p = 0.037； n = 17）。在纯合PCD患者中，有2例原因不明的心肌瘢痕形成，这与其他任何研究参与者均无心肌瘢痕形成相反（p = 0.10）。PCD患者的LV质量增加。补充左旋肉碱对于预防潜在的致命性心律失常和严重的不良心脏重塑至关重要。
京公网安备 11010802027423号