scholarly journals P705 Is chest wall deformity a serious issue? A rare case of TGFBR1 mutation in the paediatric population

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
L Abood ◽  
S Padmanabhan
Keyword(s):  
Chest Wall ◽  
Clinical Significance ◽  
Clinical Features ◽  
Aortic Root ◽  
Missense Variant ◽  
Paediatric Population ◽  
Ascending Aorta ◽  
Whole Body ◽  
Chest Wall Deformity ◽  
Aortic Root Dilatation

Abstract INTRODUCTION Mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2) have recently been found in association with a continuum of clinical features. Mild association – a presentation similar to that of Marfan"s syndrome. Severe association – a complex phenotype in which aortic dissection or rupture commonly occurs in childhood and at aortic diameters, that ordinarily would not be predictive of these events. Classified as the Loeys–Dietz syndrome. Is chest wall asymmetry a serious issue? A study of 71 patients with Loeys-Dietz – 9% died from aneurysm rupture or dissection with aortic diameters of less than 4.5cm and as early as 6 months of age. Genetic variants of unknown clinical significance - how should they be managed? CASE History 3-year old girl seen in general paediatric clinic with 5 months history of worsening chest wall deformity. Examination Asymmetrical pectus deformity. Spinal asymmetry and soft systolic murmur at the lower left sternal edge. INVESTIGATION Chest x-ray: Grossly enlarged and distorted cardiac/mediastinal silhouette. Echocardiogram Massive ascending aortic root dilatation (5.5cm) with significant aortic regurgitation. MRI whole body angiogram Massively dilated aortic root and ascending aorta to the proximal arch, hugely tortuous and ectatic cerebral vessels, diffuse marked dural ectasia, asymmetrical pectus deformity and a diaphragmatic morgagni hernia in the lower right hemi thorax. Genetic analysis Heterozygous missense variant of unknown clinical significance in exon 3 of TGFBR1 gene. The first heterozygous missense variant of its kind in the paediatric population for which its clinical significance remains unknown. TREATMENT As risk of dissection, a Bentall procedure was performed. Family screening - Father has a dilated proximal ascending aorta. LEARNING POINTS Chest wall deformity should prompt clinicians to expedite investigations for aortic root dilatation/aneurysm and connective tissue disorders. The continuum of clinical features of these genetic associations emphasises the importance of early recognition of the phenotype, prophylactic intervention and meticulous surveillance of the distal aorta and vascular tree for optimal management. A genetic variant of uncertain significance (VUS) should not be used in clinical decision making. Efforts to resolve the classification of the variant as pathogenic or benign should be undertaken with good working relationships with clinical geneticists. A VUS is difficult for patients and parents to understand and may also cause psychological distress. The importance of careful clinical and molecular characterisation to identify patients and families at risk cannot be overemphasised. This allows the use of a structured approach to intervention, informed counselling regarding the risk of recurrence, concerns related to pregnancy, and guidelines for clinical management. Abstract P705 Figure. Case Photography and Imaging

Abstract 2248: Prevalence and Long-term Clinical Significance of Aortic Root Dilatation in Competitive Athletes

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Fernando M Di Paolo ◽  
Elvira De Blasiis ◽  
Emanuele Guerra ◽  
Cataldo Pisicchio ◽  
Filippo M Quattrini ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Aortic Root ◽  
Large Population ◽  
Multivariate Regression Analysis ◽  
Left Ventricular ◽  
Normal Limits ◽  
Competitive Athletes ◽  
Clinical Surveillance ◽  
Aortic Root Dilatation

OBJECTIVES: Prevalence, clinical significance, and long-term consequences of aortic root (AoR) dilatation in competitive athletes are not yet investigated. Our aim was to assess the distribution and determinants of AoR size in a large population of competitive athletes. METHODS: AoR dimension were assessed by echocardiography in 2,361 athletes participating in 48 different sports. Of them, 43 were excluded because aortic structural abnormalities, such as bicuspid aortic valve, Marfan’s Syndrome, aortic prosthesis. The remaining 2,318, including 1,301 (56%) males and 1,017 (44%) females were the study population. Arbitrary cut-off of ≥ 40 mm, according to #36 th Bethesda Conference, was used as upper normal limits for AoR. RESULTS: AoR dimension was 32.2 ± 2.7 mm (23 to 44) in males, and 27.5 ± 2.6 mm (20 to 36) in females. AoR dimension exceeded accepted upper limits in only 18 male athletes (0.8%). Figure . Multivariate regression analysis showed left ventricular (LV) mass and body size explaining majority of AoR variability (R 2 = 0,59). Surprisingly, type of sport was not a determinant for AoR dimension. The 18 athletes with enlarged AoR were periodically followed for 7.0 ± 4.2 years. None developed cardiovascular events or symptoms. Two showed progression of AoR dilatation (from 40 to 48, and 43 to 46 mm, respectively), one had incident myocarditis and one developed moderate aortic regurgitation with enlarged LV cavity. CONCLUSIONS: Dilated aortic root is an uncommon finding in competitive athletes and do not represent expression of physiologic cardiac remodelling of the athlete’s heart. Therefore, athletes with dilated AoR deserves continued clinical surveillance.

scholarly journals Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

2018 ◽  
Vol 56 (4) ◽  
pp. 220-227 ◽  
Author(s):  
Elyssa Cannaerts ◽  
Marlies Kempers ◽  
Alessandra Maugeri ◽  
Carlo Marcelis ◽  
Thatjana Gardeitchik ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Aortic Root ◽  
Transforming Growth Factor ◽  
Premature Stop Codon ◽  
Missense Variant ◽  
Artery Dissection ◽  
Aortic Dilatation ◽  
Arterial Aneurysm ◽  
Missense Variants ◽  
Aortic Root Dilatation

BackgroundMissense variants in SMAD2, encoding a key transcriptional regulator of transforming growth factor beta signalling, were recently reported to cause arterial aneurysmal disease.ObjectivesThe aims of the study were to identify the genetic disease cause in families with aortic/arterial aneurysmal disease and to further define SMAD2 genotype–phenotype correlations.Methods and resultsUsing gene panel sequencing, we identified a SMAD2 nonsense variant and four SMAD2 missense variants, all affecting highly conserved amino acids in the MH2 domain. The premature stop codon (c.612dup; p.(Asn205*)) was identified in a marfanoid patient with aortic root dilatation and in his affected father. A p.(Asn318Lys) missense variant was found in a Marfan syndrome (MFS)-like case who presented with aortic root aneurysm and in her affected daughter with marfanoid features and mild aortic dilatation. In a man clinically diagnosed with Loeys-Dietz syndrome (LDS) that presents with aortic root dilatation and marked tortuosity of the neck vessels, another missense variant, p.(Ser397Tyr), was identified. This variant was also found in his affected daughter with hypertelorism and arterial tortuosity, as well as his affected mother. The third missense variant, p.(Asn361Thr), was discovered in a man presenting with coronary artery dissection. Variant genotyping in three unaffected family members confirmed its absence. The last missense variant, p.(Ser467Leu), was identified in a man with significant cardiovascular and connective tissue involvement.ConclusionTaken together, our data suggest that heterozygous loss-of-function SMAD2 variants can cause a wide spectrum of autosomal dominant aortic and arterial aneurysmal disease, combined with connective tissue findings reminiscent of MFS and LDS.

Alcohol Consumption and Aortic Root Dilatation: Insights from the Corinthia Study

Angiology ◽  
2019 ◽  
Vol 70 (10) ◽  
pp. 969-977 ◽  
Author(s):  
Evangelos Oikonomou ◽  
George Lazaros ◽  
Sotirios Tsalamandris ◽  
Georgia Vogiatzi ◽  
Evangelia Christoforatou ◽  
...  
Keyword(s):  
Alcohol Consumption ◽  
Aortic Root ◽  
Root Diameter ◽  
Ascending Aorta ◽  
Social Drinkers ◽  
Daily Alcohol Consumption ◽  
Aortic Root Dilatation ◽  
Study Population ◽  
Group 2 ◽  
Aorta Dilatation

Aortic diameter and progression to thoracic aortic aneurysm are influenced by several factors. In this study, we investigated the association of alcohol consumption with aortic root and ascending aorta dilatation. In the context of the Corinthia study, we examined 1751 patients with echocardiography. Several demographic and clinical characteristics were recorded. Alcohol consumption was assessed based on a questionnaire of frequency, type, and quantity. Accordingly, patients were categorized as everyday alcohol consumers (EDACs) and as social drinkers (SoD). Everyday alcohol consumers were further categorized to group 1: 0 to 1 drink/d; group 2: 1 to 2 drinks/d; and group 3: ≥3 drinks/d. From the study population, 40% were categorized as EDAC and had an increased aortic root diameter (AoRD) and an elevated AoRD index compared with SoD. Interestingly, there was a stepwise increase in aortic root and ascending aorta diameter according to daily alcohol consumption. Specifically, patients consuming ≥3 drinks of alcohol/d had increased indexed aortic by 1.4 mm/m2 compared with SoD even after adjustment for possible confounders. Daily alcohol consumption is associated with increased aortic root diameter. These findings may have important clinical implications, especially in patients with borderline or dilated aortic root, and merit further investigation.

scholarly journals Clinical Significance of Extra-Thyroid99mTc-Pertechnetate Uptake Before Initial Radioiodine Therapy For Differentiated Thyroid Carcinoma

2021 ◽  
Author(s):  
bin long ◽  
lifang yao ◽  
shoucong chen ◽  
jin shui ◽  
xuemei ye ◽  
...  
Keyword(s):  
Lymph Nodes ◽  
Clinical Significance ◽  
Clinical Features ◽  
Uptake Rate ◽  
Differentiated Thyroid Carcinoma ◽  
Whole Body ◽  
Iodine Uptake ◽  
99Mtc Pertechnetate ◽  
Uptake Rates ◽  
Technetium Uptake

Abstract Background: Over the last few decades, extra-thyroid 99mTc-pertechnetate uptake has rarely been reported. The clinical characteristics of extra-thyroid 99mTc-pertechnetate uptake were retrospectively analysed to explore the effect of the phenomenon on RAI therapy for DTC and its clinical significance. Methods: In this study, we retrospectively analysed 4930 RAI-treated DTC patients who had undergone 99mTc-pertechnetate scanning. Thirty-eight cases with extra-thyroid 99mTc-pertechnetate uptake were selected. The clinical features, location, location count and extra-thyroid 99mTc-pertechnetate uptake distribution were analysed, combined with the uptake rate, stimulated thyroglobulin (sTg) level, post-therapy whole-body scan and curative effect. Results: The results showed that sixty-five extra-thyroid 99mTc-pertechnetate foci were detected in 38 patients. The proportions of patients with abnormal uptake in the lymph nodes, lungs and bones were 68.4%, 10.5% and 10.5%, respectively. The corresponding uptake rates were 0.2%, 0.2% and 0.8%. The uptake rate was significantly lower in the lymph nodes than in the bones (Z = -2.722, p = 0.019). The uptake rate and sTg were positively correlated (r = 0.36, p = 0.027). 131I uptake was found in 36 cases at the technetium uptake site, and the number of iodine uptake foci was significantly higher than that of 99mTc-pertechnetate uptake foci. The sTg value and pathological staging significantly differed between the excellent and nonexcellent response groups (Z = 2.947, p = 0.003 and Z = 2.348, p = 0.019, respectively). Conclude: Extra-thyroid 99mTc-pertechnetate uptake mostly indicated metastases with specific clinical features, which may have prognostic value for the judgment of iodine uptake function and the RAI therapy plan.

scholarly journals Effects of ascending aorta replacement on aortic root dilatation

2005 ◽  
Vol 27 (1) ◽  
pp. 86-89 ◽  
Author(s):  
R DEPAULIS ◽  
E CETRANO ◽  
M MOSCARELLI ◽  
G ANDO ◽  
F BERTOLDO ◽  
...  
Keyword(s):  
Aortic Root ◽  
Ascending Aorta ◽  
Aortic Root Dilatation ◽  
Aorta Replacement ◽  
Ascending Aorta Replacement

scholarly journals Clinical significance of extra-thyroid 99mTc-pertechnetate uptake before initial radioiodine therapy for differentiated thyroid carcinoma

2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110126
Author(s):  
Bin Long ◽  
Li-Fang Yao ◽  
Shou-Cong Chen ◽  
Jin Shui ◽  
Xue-Mei Ye ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Clinical Significance ◽  
Clinical Features ◽  
Uptake Rate ◽  
Radioactive Iodine ◽  
Differentiated Thyroid Carcinoma ◽  
Whole Body ◽  
Iodine Uptake ◽  
Uptake Rates ◽  
Post Therapy

Objective To analyse the clinical characteristics of extra-thyroid 99mTc-pertechnetate uptake in order to explore the effect of the phenomenon on radioactive iodine (RAI) therapy for differentiated thyroid carcinoma (DTC) and its clinical significance. Methods This study retrospectively selected patients with DTC and extra-thyroid 99mTc-pertechnetate uptake. The clinical features, location, location count and extra-thyroid 99mTc-pertechnetate uptake distribution were analysed, combined with the uptake rate, stimulated thyroglobulin (sTg) level, post-therapy whole-body scan and curative effect. Results A total of 38 patients were enrolled in the study and 65 extra-thyroid 99mTc-pertechnetate foci were detected. Thirty-four patients showed abnormal 99mTc-pertechnetate uptake in the lymph nodes (26 of 38; 68.4%), lungs (four of 38; 10.5%) and bones (four of 38; 10.5%). The corresponding uptake rates were 0.2%, 0.2% and 0.8%, respectively. The uptake rate and sTg were significantly positively correlated ( r = 0.36). 131I uptake was found in 36 patients at the 99mTc-pertechnetate uptake site. The number of iodine uptake foci was significantly higher than that of 99mTc-pertechnetate uptake foci. The sTg value and pathological staging significantly differed between the excellent and nonexcellent response groups (Z = –2.947 and Z = –2.348, respectively). Conclusion Extra-thyroid 99mTc-pertechnetate uptake mostly indicated metastases with specific clinical features, which may have prognostic value for the judgment of iodine uptake function and the RAI therapy plan.

scholarly journals Root Dilatation Is More Malignant Than Ascending Aortic Dilation

2021 ◽  
Author(s):  
Paris D. Kalogerakos ◽  
Mohammad A. Zafar ◽  
Yupeng Li ◽  
Sandip K. Mukherjee ◽  
Bulat A. Ziganshin ◽  
...  
Keyword(s):  
Adverse Events ◽  
Aortic Root ◽  
Cox Regression ◽  
Ascending Aorta ◽  
Aortic Dilatation ◽  
Natural Behavior ◽  
Cox Regression Analysis ◽  
Aortic Root Dilatation ◽  
Hinge Points ◽  
Natural Histories

Background Data from the International Registry of Acute Aortic Dissection indicate that the guideline criterion of 5.5 cm for ascending aortic intervention misses many dissections occurring at smaller dimensions. Furthermore, studies of natural behavior have generally treated the aortic root and the ascending aorta as 1 unit despite embryological, anatomical, and functional differences. This study aims to disentangle the natural histories of the aforementioned aortic segments, allowing natural behavior to define specific intervention criteria for root and ascending segments of the aorta. Methods and Results Diameters of the aortic root and mid‐ascending segment were measured separately. Long‐term complications (dissection, rupture, and death) were analyzed retrospectively for 1162 patients with ascending thoracic aortic aneurysm. Cox regression analysis suggested that aortic root dilatation ( P =0.017) is more significant in predicting adverse events than mid‐ascending aortic dilatation ( P =0.087). Short stature posed as a serious risk factor. The dedicated risk curves for the aortic root and the mid‐ascending aorta revealed hinge points at 5.0 and 5.25 cm, respectively. Conclusions The natural histories of the aortic root and mid‐ascending aorta are uniquely different. Dilation of the aortic root imparts a significant higher risk of adverse events. A diameter shift for intervention to 5.0 cm for the aortic root and to 5.25 cm for the mid‐ascending aorta should be considered at expert centers.

Dilatation of the entire thoracic aorta in patients with bicuspid aortic valve: a magnetic resonance angiography study

VASA ◽  
2005 ◽  
Vol 34 (3) ◽  
pp. 181-185 ◽  
Author(s):  
Westhoff-Bleck ◽  
Meyer ◽  
Lotz ◽  
Tutarel ◽  
Weiss ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Angiography ◽  
Aortic Valve ◽  
Pulmonary Artery ◽  
Aortic Arch ◽  
Thoracic Aorta ◽  
Aortic Root ◽  
Ascending Aorta ◽  
Descending Aorta ◽  
Severe Aortic Regurgitation

Background: The presence of a bicuspid aortic valve (BAV) might be associated with a progressive dilatation of the aortic root and ascending aorta. However, involvement of the aortic arch and descending aorta has not yet been elucidated. Patients and methods: Magnetic resonance angiography (MRA) was used to assess the diameter of the ascending aorta, aortic arch, and descending aorta in 28 patients with bicuspid aortic valves (mean age 30 ± 9 years). Results: Patients with BAV, but without significant aortic stenosis or regurgitation (n = 10, mean age 27 ± 8 years, n.s. versus control) were compared with controls (n = 13, mean age 33 ± 10 years). In the BAV-patients, aortic root diameter was 35.1 ± 4.9 mm versus 28.9 ± 4.8 mm in the control group (p < 0.01). The diameter of the ascending aorta was also significantly increased at the level of the pulmonary artery (35.5 ± 5.6 mm versus 27.0 ± 4.8 mm, p < 0.001). BAV-patients with moderate or severe aortic regurgitation (n = 18, mean age 32 ± 9 years, n.s. versus control) had a significant dilatation of the aortic root, ascending aorta at the level of the pulmonary artery (41.7 ± 4.8 mm versus 27.0 ± 4.8 mm in control patients, p < 0.001) and, furthermore, significantly increased diameters of the aortic arch (27.1 ± 5.6 mm versus 21.5 ± 1.8 mm, p < 0.01) and descending aorta (21.8 ± 5.6 mm versus 17.0 ± 5.6 mm, p < 0.01). Conclusions: The whole thoracic aorta is abnormally dilated in patients with BAV, particularly in patients with moderate/severe aortic regurgitation. The maximum dilatation occurs in the ascending aorta at the level of the pulmonary artery. Thus, we suggest evaluation of the entire thoracic aorta in patients with BAV.

Lupus Aortitis Leading to Aneurysmal Dilatation in the Aortic Root and Ascending Aorta

2009 ◽  
Vol 12 (2) ◽  
pp. E105-E108 ◽  
Author(s):  
Derek R. Brinster ◽  
John D. Grizzard ◽  
Alok Dash
Keyword(s):  
Aortic Root ◽  
Ascending Aorta ◽  
Aneurysmal Dilatation
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