Luigi Lovato MD , Mariano Cefarelli MD, PhD , Luca Di Marco MD, PhD , Daniel Arcioni MD , Giada Tortora MD, PhD , Ada Dormi Mth D Biostatistical , Nicolò Schicchi MD , Elisabetta Mariucci MD, PhD , Marco Di Eusanio MD, PhD , Davide Pacini MD, PhD , Rossella Fattori MD, PhD
{"title":"Marfan 和 Loeys-Dietz 主动脉表型：诊断和管理的潜在工具","authors":"Luigi Lovato MD , Mariano Cefarelli MD, PhD , Luca Di Marco MD, PhD , Daniel Arcioni MD , Giada Tortora MD, PhD , Ada Dormi Mth D Biostatistical , Nicolò Schicchi MD , Elisabetta Mariucci MD, PhD , Marco Di Eusanio MD, PhD , Davide Pacini MD, PhD , Rossella Fattori MD, PhD","doi":"10.1016/j.xjon.2024.03.015","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>Patients with Marfan syndrome showed a higher prevalence of ascending aorta and aortic root dilation (<em>P</em> = .011), larger and longer aortic roots (<em>P</em> = .013) with pear-shaped phenotype, larger isthmus/descending aorta diameter ratio (<em>P</em> = .015), and larger suprarenal aorta and iliac arteries. Patients with Loeys-Dietz syndrome showed longer indexed segments and a significantly longer arch (<em>P</em> = .006) with type 2/3 arch prevalence (<em>P</em> = .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.</p></div><div><h3>Conclusions</h3><p>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.</p></div>","PeriodicalId":74032,"journal":{"name":"JTCVS open","volume":"19 ","pages":"Pages 223-240"},"PeriodicalIF":0.0000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666273624000950/pdfft?md5=23e6f3501be154863946e302aabaf4a2&pid=1-s2.0-S2666273624000950-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Marfan and Loeys-Dietz aortic phenotype: A potential tool for diagnosis and management\",\"authors\":\"Luigi Lovato MD , Mariano Cefarelli MD, PhD , Luca Di Marco MD, PhD , Daniel Arcioni MD , Giada Tortora MD, PhD , Ada Dormi Mth D Biostatistical , Nicolò Schicchi MD , Elisabetta Mariucci MD, PhD , Marco Di Eusanio MD, PhD , Davide Pacini MD, PhD , Rossella Fattori MD, PhD\",\"doi\":\"10.1016/j.xjon.2024.03.015\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>Patients with Marfan syndrome showed a higher prevalence of ascending aorta and aortic root dilation (<em>P</em> = .011), larger and longer aortic roots (<em>P</em> = .013) with pear-shaped phenotype, larger isthmus/descending aorta diameter ratio (<em>P</em> = .015), and larger suprarenal aorta and iliac arteries. Patients with Loeys-Dietz syndrome showed longer indexed segments and a significantly longer arch (<em>P</em> = .006) with type 2/3 arch prevalence (<em>P</em> = .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.</p></div><div><h3>Conclusions</h3><p>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.</p></div>\",\"PeriodicalId\":74032,\"journal\":{\"name\":\"JTCVS open\",\"volume\":\"19 \",\"pages\":\"Pages 223-240\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2666273624000950/pdfft?md5=23e6f3501be154863946e302aabaf4a2&pid=1-s2.0-S2666273624000950-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JTCVS open\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2666273624000950\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JTCVS open","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2666273624000950","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Marfan and Loeys-Dietz aortic phenotype: A potential tool for diagnosis and management
Objective
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.
Methods
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.
Results
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.
Conclusions
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.
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