PDF(Pubmed)
Abstract：
UNASSIGNED: In heritable aortic diseases, different vascular involvement may occur with potential variable implications in aortic dilation/dissection risk. This study aimed to analyze the aortic anatomy of individuals with Marfan syndrome and Loeys-Dietz syndrome to identify possible morphological differences.
UNASSIGNED: Computed tomography and magnetic resonance imaging of the thoracoabdominal aorta from the proximal supra-aortic vessels to the femoral bifurcation level of 114 patients with Marfan and Loeys-Dietz syndromes and 20 matched control subjects were examined. Aortic diameters, areas, length, and tortuosity were measured in different aortic segments using specific vessel analysis software.
UNASSIGNED: Patients with Marfan syndrome showed a higher prevalence of ascending aorta and aortic root dilation (P = .011), larger and longer aortic roots (P = .013) with pear-shaped phenotype, larger isthmus/descending aorta diameter ratio (P = .015), and larger suprarenal aorta and iliac arteries. Patients with Loeys-Dietz syndrome showed longer indexed segments and a significantly longer arch (P = .006) with type 2/3 arch prevalence (P = .097). Measurement ratios analysis provided cut-off values (aortic root to ascending aorta length/aortic root diameter, aortic root/sinotubular junction, aortic root/ascending aorta diameter) differentiating patients with Marfan syndrome from patients with Loeys-Dietz syndrome, even in the early stage of the disease.
UNASSIGNED: Both syndromes show peculiar anatomic patterns at different aortic levels irrespective of aortic dilation and disease severity. These features may represent the expression of different genetic mutations on aortic development, with a potential impact on prognosis and possibly contributing to better management of the diseases. The systematic adoption of whole body imaging with magnetic resonance or computed tomography should always be considered, because they allow a complete vascular assessment with practical indicators of differential diagnosis.
UNASSIGNED: Computed tomography and magnetic resonance imaging of the thoracoabdominal aorta from the proximal supra-aortic vessels to the femoral bifurcation level of 114 patients with Marfan and Loeys-Dietz syndromes and 20 matched control subjects were examined. Aortic diameters, areas, length, and tortuosity were measured in different aortic segments using specific vessel analysis software.
UNASSIGNED: Patients with Marfan syndrome showed a higher prevalence of ascending aorta and aortic root dilation (P = .011), larger and longer aortic roots (P = .013) with pear-shaped phenotype, larger isthmus/descending aorta diameter ratio (P = .015), and larger suprarenal aorta and iliac arteries. Patients with Loeys-Dietz syndrome showed longer indexed segments and a significantly longer arch (P = .006) with type 2/3 arch prevalence (P = .097). Measurement ratios analysis provided cut-off values (aortic root to ascending aorta length/aortic root diameter, aortic root/sinotubular junction, aortic root/ascending aorta diameter) differentiating patients with Marfan syndrome from patients with Loeys-Dietz syndrome, even in the early stage of the disease.
UNASSIGNED: Both syndromes show peculiar anatomic patterns at different aortic levels irrespective of aortic dilation and disease severity. These features may represent the expression of different genetic mutations on aortic development, with a potential impact on prognosis and possibly contributing to better management of the diseases. The systematic adoption of whole body imaging with magnetic resonance or computed tomography should always be considered, because they allow a complete vascular assessment with practical indicators of differential diagnosis.
摘要：
■在遗传性主动脉疾病中，不同的血管受累可能对主动脉扩张/夹层风险有潜在的不同影响.本研究旨在分析Marfan综合征和Loeys-Dietz综合征患者的主动脉解剖结构，以确定可能的形态学差异。
■对114例Marfan和Loeys-Dietz综合征患者和20例匹配的对照受试者进行了胸腹主动脉从主动脉近端上血管到股分叉水平的计算机断层扫描和磁共振成像检查。主动脉直径,区域,长度,使用特定血管分析软件测量不同主动脉段的弯曲度。
■马凡氏综合征患者升主动脉和主动脉根部扩张的患病率较高（P=.011），较大和较长的主动脉根部（P=0.013），具有梨形表型，较大的峡部/降主动脉直径比（P=.015），和较大的肾上主动脉和髂动脉。Loeys-Dietz综合征患者显示出更长的指数化节段和明显更长的弓（P=.006），2/3型弓患病率（P=.097）。测量比率分析提供了临界值（主动脉根到升主动脉长度/主动脉根直径，主动脉根/窦管交界处，主动脉根/升主动脉直径）将马凡氏综合征患者与Loeys-Dietz综合征患者区分开来，甚至在疾病的早期阶段。
■两种综合征均在不同的主动脉水平显示出独特的解剖模式，而与主动脉扩张和疾病严重程度无关。这些特征可能代表了不同基因突变对主动脉发育的表达，对预后有潜在影响，并可能有助于更好地管理疾病。应始终考虑采用磁共振或计算机断层扫描的全身成像，因为它们允许使用实用的鉴别诊断指标进行完整的血管评估。
■对114例Marfan和Loeys-Dietz综合征患者和20例匹配的对照受试者进行了胸腹主动脉从主动脉近端上血管到股分叉水平的计算机断层扫描和磁共振成像检查。主动脉直径,区域,长度,使用特定血管分析软件测量不同主动脉段的弯曲度。
■马凡氏综合征患者升主动脉和主动脉根部扩张的患病率较高（P=.011），较大和较长的主动脉根部（P=0.013），具有梨形表型，较大的峡部/降主动脉直径比（P=.015），和较大的肾上主动脉和髂动脉。Loeys-Dietz综合征患者显示出更长的指数化节段和明显更长的弓（P=.006），2/3型弓患病率（P=.097）。测量比率分析提供了临界值（主动脉根到升主动脉长度/主动脉根直径，主动脉根/窦管交界处，主动脉根/升主动脉直径）将马凡氏综合征患者与Loeys-Dietz综合征患者区分开来，甚至在疾病的早期阶段。
■两种综合征均在不同的主动脉水平显示出独特的解剖模式，而与主动脉扩张和疾病严重程度无关。这些特征可能代表了不同基因突变对主动脉发育的表达，对预后有潜在影响，并可能有助于更好地管理疾病。应始终考虑采用磁共振或计算机断层扫描的全身成像，因为它们允许使用实用的鉴别诊断指标进行完整的血管评估。
