ALTERATION OF ELASTIC PROPERTIES IN CONGENITAL/INHERITED AORTIC DISEASES: MRI STUDY IN MARFAN SYNDROME AND BICUSPID AORTIC VALVE

Marfan Syndrome and Bicuspid Aortic Valve (BAV) are characterized by the congenital/inherited alteration of the fibrillin proteins of aortic wall extracellular matrix, with higher incidence of aortic dissection/rupture even without aortic dilation. Therefore, early identification and treatment of aortic involvement could improve prognosis. The purpose of this study was to evaluate aortic elastic properties of BAV and Marfan Syndrome patients to identify an index of early aortic involvement. Methods: A Magnetic Resonance Imaging (MRI) study was performed on 38 BAV patients, 20 Marfan patients and 14 healthy volunteers as a control group. A high-resolution gradient-echo sequence was applied in the axial plane at the level of pulmonary artery bifurcation to evaluate aortic distensibility. Results: Aortic distensibility was significantly different among the three groups (ANOVA, p = 0.0001) and was sensibly reduced in BAV (0.0056 ± 0.0048 versus 0.025 ± 0.006 control group) and Marfan (0.0085 ± 0.006 versus 0.025 ± 0.006 control group). Intraobserver and interobserver reproducibility for diastolic measurements were 1.2% and 0.4% respectively and for systolic measurements, they were 1.1% and 0.3% respectively. Conclusion: In BAV or Marfan Syndrome patients, MRI evaluation of abnormal distensibility may provide a reliable index of early aortic involvement, even before aortic dilation occurs.

Download Full-text

Aortic diseases

ESC CardioMed ◽

10.1093/med/9780198784906.003.0689_update_001 ◽

2018 ◽

pp. 2861-2863

Author(s):

Bernard Iung

Keyword(s):

Aortic Valve ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve ◽

Young Women ◽

Beta Blockers ◽

Aortic Aneurysms ◽

Maximum Diameter ◽

Aortic Diseases

Aortic diseases encountered in young women are mainly associated with syndromic diseases, which are often heritable, or bicuspid aortic valve. The most frequent syndromic disease is Marfan syndrome. In Marfan syndrome, the risk of aortic dissection is low during pregnancy when the maximum diameter of the ascending aorta is less than 45 mm. Dissection may affect the thoracic ascending or descending aorta. The risk of aortic dissection is low in bicuspid aortic valve when the aortic diameter is less than 50 mm. Beta blockers are recommended throughout pregnancy in Marfan syndrome and are often used in other causes of aortic aneurysms. Close echocardiographic follow-up is needed during pregnancy and after delivery.

Download Full-text

Aortic diseases

ESC CardioMed ◽

10.1093/med/9780198784906.003.0689 ◽

2018 ◽

pp. 2861-2863

Author(s):

Bernard Iung

Keyword(s):

Aortic Valve ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve ◽

Young Women ◽

Beta Blockers ◽

Aortic Aneurysms ◽

Maximum Diameter ◽

Aortic Diseases

Download Full-text

Abstract 5770: Abnormal Aortic Root Elastic Properties in Family Members of Bicuspid Aortic Valve Subjects, despite Normal Aortic Valve Morphology.

Circulation ◽

10.1161/circ.118.suppl_18.s_999 ◽

2008 ◽

Vol 118 (suppl_18) ◽

Author(s):

Asim Rafique ◽

Simon Biner ◽

Indraneil Ray ◽

Olivera Cuk ◽

Robert Siegel ◽

...

Keyword(s):

Aortic Valve ◽

Elastic Properties ◽

Bicuspid Aortic Valve ◽

Aortic Root ◽

Family Members ◽

Structural Heart Disease ◽

Aortic Distensibility ◽

Stiffness Index ◽

Valve Morphology ◽

2D Echocardiography

Background: Abnormal aorta dilatation and elastic properties have been documented in subjects with bicuspid aortic valve (BAV). 10% of first degree relatives (FDRs) of probands with BAV inherit this valvular abnormality. There is no data regarding the elastic properties of aortic root in family members of BAV subjects. We evaluated the elastic properties in FDRs with normal tricuspid aortic valves. Methods: Systolic and diastolic aortic root dimensions were measured by 2D echocardiography in BAV probands (n=48) their FDRs (n = 49) and controls without structural heart disease matched by age and gender (n=44) at sinuses of Valsalva level. In addition, systolic (SBP) and diastolic blood pressure (DBP) were measured to calculate aortic distensibility, stiffness index and strain. Results: Five subjects (10%) in FDR group were found to have BAV, thus they were included in BAV group. There was no difference in age, gender, SBP and DBP in the three groups. History of hypertension was less prevalent in FDRs when compared to BAV and controls (16% vs 43% and 33%, p=0.03). All three parameters of aortic elastic properties including distensibility ×10 −3 mmHg (1.2±1.0 and 1.5±1.1 vs 2.3±1.5, p<0.001), stiffness index (56.5±76.4 and 29.1±32.5 vs 12.6±9.2, p<0.001) and strain (2.9±2.4and 3.6±2.5 vs 6.0±3.6, p<0.001) were significantly worse in BAV and FDRs compared to controls (Figure ). Conclusions: Aortic root elastic properties are abnormal in the family members of subjects with BAV despite normal tricuspid aortic valve morphology. This finding supports the hypothesis that there is a common genetic basis for BAV and abnormal elastic properties of aorta.

Download Full-text

P5492Regional aortic stiffness in bicuspid aortic valve patients assessed by 4D-flow CMR: influence of aortic dilation and comparison with Marfan syndrome and degenerative aortic aneurysm

European Heart Journal ◽

10.1093/eurheartj/ehy566.p5492 ◽

2018 ◽

Vol 39 (suppl_1) ◽

Author(s):

A Guala ◽

J Rodriguez-Palomares ◽

G Teixido-Tura ◽

L Dux-Santoy ◽

A Ruiz-Munoz ◽

...

Keyword(s):

Aortic Valve ◽

Aortic Aneurysm ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve ◽

Aortic Stiffness ◽

Aortic Dilation ◽

4D Flow ◽

4D Flow Cmr

Download Full-text

Rapid ascending aorta stiffening in bicuspid aortic valve on serial cardiovascular magnetic resonance evaluation: comparison with connective tissue disorders

Journal of Cardiovascular Magnetic Resonance ◽

10.1186/s12968-021-00716-5 ◽

2021 ◽

Vol 23 (1) ◽

Author(s):

Alejandro Perez-Casares ◽

Audrey Dionne ◽

Kimberlee Gauvreau ◽

Ashwin Prakash

Keyword(s):

Cardiovascular Magnetic Resonance ◽

Magnetic Resonance ◽

Aortic Valve ◽

Connective Tissue ◽

Bicuspid Aortic Valve ◽

Aortic Stiffness ◽

Comparison Group ◽

Aortic Distensibility ◽

Connective Tissue Disorders ◽

Aortic Stiffening

Abstract Background Aortic stiffness has been shown to be abnormal in patients with bicuspid aortic valve (BAV), and is considered a component of the aortopathy associated with this condition. Progressive aortic stiffening associated with aging has been previously described in normal adults. However, it is not known if aging related aortic stiffening occurs at the same rate in BAV patients. We determined the longitudinal rate of decline in segmental distensibility in BAV patients using serial cardiovascular magnetic resonance (CMR) studies, and compared to previously published results from a group of patients with connective tissue disorders (CTD). Methods A retrospective review of CMR and clinical data on children and adults with BAV (n = 49, 73% male; 23 ± 11 years) with at least two CMRs (total 98 examinations) over a median follow-up of 4.1 years (range 1–9 years) was performed to measure aortic distensibility at the ascending (AAo) and descending aorta (DAo). Longitudinal changes in aortic stiffness were assessed using linear mixed-effects modeling. The comparison group of CTD patients had a similar age and gender profile (n = 50, 64% male; 20.6 ± 12 years). Results Compared to CTD patients, BAV patients had a more distensible AAo early in life but showed a steeper decline in distensibility on serial examinations [mean 10-year decline in AAo distensibility (× 10−3 mmHg−1) 2.4 in BAV vs 1.3 in CTD, p = 0.005]. In contrast, the DAo was more distensible in BAV patients throughout the age spectrum, and DAo distensibility declined with aging at a rate similar to CTD patients [mean 10 year decline in DAo distensibility (× 10−3 mmHg−1) 0.3 in BAV vs 0.4 in CTD, p = 0.58]. Conclusions On serial CMR measurements, AAo distensibility declined at significantly steeper rate in BAV patients compared to a comparison group with CTDs, while DAo distensibility declined at similar rates in both groups. These findings offer new mechanistic insights into the differing pathogenesis of the aortopathy seen in BAV and CTD patients.

Download Full-text

Bicuspid Aortic Valve in Children with Marfan Syndrome: High Appearance without Correlation to Severity of Clinical Symptoms

The Thoracic and Cardiovascular Surgeon ◽

10.1055/s-0037-1599039 ◽

2017 ◽

Vol 65 (S 02) ◽

pp. S111-S142

Author(s):

V.C. Stark ◽

T.S. Mir ◽

F. Arndt ◽

J. Olfe ◽

F. Seggewies ◽

...

Keyword(s):

Aortic Valve ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve ◽

Clinical Symptoms

Download Full-text

Dorsal Wrist Pain in the Extended Wrist-Loading Position: An MRI Study

Journal of Wrist Surgery ◽

10.1055/s-0037-1599829 ◽

2017 ◽

Vol 06 (04) ◽

pp. 276-279 ◽

Cited By ~ 1

Author(s):

Erin Nance ◽

David Byun ◽

Yoshimi Endo ◽

Scott Wolfe ◽

Steve Lee

Keyword(s):

Ganglion Cyst ◽

Weight Bearing ◽

Retrospective Chart Review ◽

Wrist Pain ◽

Control Group ◽

Level Of Evidence ◽

Ganglion Cysts ◽

Magnetic Resonance Imaging Mri ◽

Mri Study ◽

Dorsal Ganglion

Background The etiology of dorsal wrist pain associated with loading of the wrist in extension has not been clearly identified in the literature. Purpose Many exercise disciplines incorporate upper extremity weight-bearing exercises in an extended wrist posture, for example push-ups, plank position, and various yoga and Pilates poses. This study evaluates patients with dorsal wrist pain in the extended wrist-loading position and identifies anatomic abnormalities in the wrist using magnetic resonance imaging (MRI). Methods A retrospective chart review was performed comparing MRI of patients who complained of dorsal wrist pain while performing weight bearing in a wrist extension position with a control group of patients who complained of ulnar-sided wrist pain. The primary MRI outcome was dorsal wrist pathology, including occult dorsal ganglion cyst, scapholunate ligament tear or degeneration, and dorsal capsulitis. Results Dorsal wrist pathology was significantly more prevalent in patients with dorsal wrist pain (84%) than in the patient cohort with ulnar-sided wrist pain (12%). Occult dorsal ganglion cysts were the most common sources of pathology (76%). Conclusion MRI demonstrated an identifiable dorsal abnormality in 84% of patients with dorsal wrist pain associated with weight bearing on the extended wrist. Occult dorsal ganglion cysts are the most common cause of dorsal wrist pain, followed by partial scapholunate tears. When patients complain of dorsal wrist pain during specific extended loading wrist positions such as push-ups, yoga, or Pilates poses, an MRI may be warranted to help identify anatomic abnormalities that may help guide treatment choices. Level of Evidence Diagnostic, Level III.

Download Full-text

The Development of the Ascending Aortic Wall in Tricuspid and Bicuspid Aortic Valve: A Process from Maturation to Degeneration

Journal of Clinical Medicine ◽

10.3390/jcm9040908 ◽

2020 ◽

Vol 9 (4) ◽

pp. 908

Author(s):

Nimrat Grewal ◽

Adriana C. Gittenberger-de Groot ◽

Jan von der Thusen ◽

Lambertus J. Wisse ◽

Margot M. Bartelings ◽

...

Keyword(s):

Aortic Valve ◽

Young Child ◽

Bicuspid Aortic Valve ◽

Aortic Wall ◽

Age Groups ◽

Intimal Thickening ◽

Aortic Dilation ◽

Future Studies ◽

Increased Risk ◽

Two Phases

Background: Patients with a bicuspid aortic valve (BAV) have an increased risk for aortic dilation and dissection. In this study, we provide a histological stratification of the developing aorta in the tricuspid aortic valve (TAV) and the BAV populations as a reference for future studies on aortopathy and related syndromes. Methods: Non-dilated TAV and BAV ascending aortic wall samples were collected, including 60 TAV (embryonic–70 years) and 32 BAV specimens (fetal–72 years, categorized in eight age groups. Results: In TAV, intimal development starts in the neonatal phase. After birth, the thickness of the medial layer increases significantly by increase of elastic lamellae up to and including the “young child” phase stabilizing afterwards. The BAV shows already prenatal intimal thickening becoming significantly thinner after birth subsequently stabilizing. In BAV, increase in elastic lamellae is seen between the young child and the adolescent phases, stabilizing afterwards. Conclusions: Vascular development in TAV is described in three phases: maturation, stabilization, and degeneration. For BAV, the development can be described in two phases: maturation (already prenatally) and degeneration. After birth, the development of the aorta is characterized by degeneration, leading to weakening of the ascending aortic wall and increasing the risk of aortopathy.

Download Full-text

Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome

Cardiology in the Young ◽

10.1017/s1047951120000748 ◽

2020 ◽

Vol 30 (5) ◽

pp. 663-667 ◽

Cited By ~ 1

Author(s):

Emanuele Monda ◽

Adelaide Fusco ◽

Daniela Melis ◽

Martina Caiazza ◽

Felice Gragnano ◽

...

Keyword(s):

Young Adult ◽

Family History ◽

Aortic Valve ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve ◽

Young Patients ◽

P Value ◽

Z Score ◽

Aortic Sinus ◽

History Of

AbstractBackground:Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.Methods:A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.Results:Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).Conclusions:In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

Download Full-text