Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome

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

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

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

Bicuspid Aortic Valve in Marfan Syndrome

Circulation Cardiovascular Imaging ◽

10.1161/circimaging.119.008860 ◽

2019 ◽

Vol 12 (3) ◽

Cited By ~ 3

Author(s):

Alan C. Braverman ◽

Mary J. Roman

Keyword(s):

Aortic Valve ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve

Download Full-text

Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome

Circulation Cardiovascular Imaging ◽

10.1161/circimaging.118.008129 ◽

2019 ◽

Vol 12 (3) ◽

Cited By ~ 6

Author(s):

Olivier Milleron ◽

Jacques Ropers ◽

Florence Arnoult ◽

Claire Bouleti ◽

Gabriel Delorme ◽

...

Keyword(s):

Aortic Valve ◽

Marfan Syndrome ◽

Clinical Significance ◽

Bicuspid Aortic Valve ◽

Aortic Root

Download Full-text

Aortic dissection in Marfan syndrome: is bicuspid aortic valve (BAV) a risk factor?

Archives of Cardiovascular Diseases Supplements ◽

10.1016/s1878-6480(17)30230-6 ◽

2017 ◽

Vol 9 (1) ◽

pp. 74

Author(s):

O. Milleron ◽

D. Baghdadi ◽

M. Langeois ◽

M. Spentchian ◽

F. Arnoult ◽

...

Keyword(s):

Risk Factor ◽

Aortic Valve ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve

Download Full-text

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

Journal of Mechanics in Medicine and Biology ◽

10.1142/s0219519406001807 ◽

2006 ◽

Vol 06 (01) ◽

pp. 47-53

Author(s):

LUIGI LOVATO ◽

PAOLO SBARZAGLIA ◽

SILVIA MAGI ◽

VINCENZO RUSSO ◽

ROMANO ZANNOLI ◽

...

Keyword(s):

Aortic Valve ◽

Marfan Syndrome ◽

Elastic Properties ◽

Bicuspid Aortic Valve ◽

Aortic Distensibility ◽

Control Group ◽

Aortic Dilation ◽

Aortic Diseases ◽

Magnetic Resonance Imaging Mri ◽

Mri Study

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

Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis

Analytical Biochemistry ◽

10.1016/j.ab.2009.03.032 ◽

2009 ◽

Vol 389 (2) ◽

pp. 102-106 ◽

Cited By ~ 11

Author(s):

Chia-Cheng Hung ◽

Shin-Yu Lin ◽

Chien-Nan Lee ◽

Hui-Yu Cheng ◽

Chiou-Ya Lin ◽

...

Keyword(s):

High Resolution ◽

Marfan Syndrome ◽

High Resolution Melting ◽

Gene Mutations ◽

High Resolution Melting Analysis ◽

Fibrillin 1 ◽

Melting Analysis

Download Full-text

Abstract 11621: Fibrillin-1 Gene Mutations in Left Ventricular Non-Compaction Cardiomyopathy

Circulation ◽

10.1161/circ.130.suppl_2.11621 ◽

2014 ◽

Vol 130 (suppl_2) ◽

Author(s):

John J Parent ◽

Jeffrey A Towbin ◽

John L Jefferies

Keyword(s):

Extracellular Matrix ◽

Gene Mutation ◽

Marfan Syndrome ◽

Gene Mutations ◽

Left Ventricular ◽

Current Evidence ◽

Causative Gene ◽

Fbn1 Gene ◽

Gene Testing ◽

Fibrillin 1

Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare and unique cardiomyopathy. Its presentation can range from a benign phenotype to overt heart failure and sudden cardiac death. The genetics of LVNC are not completely understood and current genetic testing has a yield of about 30% in identifying a causative gene mutation. We present a series of patients with LVNC and fibrillin-1 (FBN1) gene mutations. Hypothesis: We hypothesize that FBN1 gene mutations can lead to LVNC by way of its role in the myocardial extracellular matrix during cardiac development. Methods: A retrospective review of all patients with LVNC at our institution was performed for purposes of another investigation. The process unexpectedly identified patients with LVNC and FBN1 gene mutations, as well as LVNC and Marfan syndrome. Results: Approximately 150 patients are followed in our clinic with LVNC. We screened this population and found 51 patients on medical therapy for reduced function. We retrospectively reviewed gene testing in these 51 patients, when available, and identified 5 patients (10%) with an FBN1 gene mutation. All 5 patients had a dilated LVNC phenotype and previous or current evidence of left ventricular dysfunction. Syndrome breakdown as follows: 3 with Marfan, 1 with Shprintzen-Goldberg, and 1 with no identifiable syndrome. Dilated cardiomyopathy/LVNC gene testing was performed in 3 patients; 2 had disease causing myosin heavy chain 7 gene defects and 1 had no defects. Conclusions: The role of FBN1 in the human myocardium is not completely understood but it is expressed in the developing fetal heart and is a component of the myocardial extracellular matrix. Although causation has not been proven by our report, it certainly raises interest in a mechanistic relationship between LVNC and FBN1 given the increased prevalence of Marfan syndrome and probable increased prevalence of FBN1 gene mutations in this cohort of LVNC patients in light of FBN1.

Download Full-text