Literature DB >> 23684596

Hereditary patterns of bicuspid aortic valve in a hundred families.

Juan Robledo-Carmona1, Isabel Rodríguez-Bailón, Fernando Carrasco-Chinchilla, Borja Fernández, Manuel Jiménez-Navarro, Carlos Porras-Martin, Angel Montiel-Trujillo, Jose M García-Pinilla, Miguel Such-Martínez, Eduardo De Teresa-Galván.   

Abstract

BACKGROUND: To study the following characteristics of bicuspid aortic valves (BAVs): 1) the recurrence rate in our population, 2) patterns of hereditary transmission in different BAV morphologies and 3) the aortic dimensions of BAVs in first-degree relatives (FDRs).
METHODS: A cross-sectional, prospective study of 100 consecutive families of BAV patients attending a university hospital. The following aortic valve morphologies were analysed and categorised: fusion of the right and left coronary cusps (BAV type A), right and noncoronary cusps (type B) and of the left and noncoronary cusps (type C).
RESULTS: There were 553 subjects studied, 100 cases with a BAV (46.8±15 years, 66% male, type 67% A, 32% B and 1% C; 42% with aortic dilatation), 348 FDRs (44.8% male), and 105 healthy control subjects (50% male). We detected 16 BAVs among 348 FDRs. The recurrence rates were 15% for families, 4.6% for FDRs, 7.05% in men and 2.60% in women. The morphologic concordance in family members was 68.8%. The aortic dimensions in 270 adult FDRs with a tricuspid aortic valve were significantly smaller compared with BAV patients (sinus index diameter 1.60±0.19 cm/m(2) vs. 1.82±0.29 cm/m(2), p<0.001; tubular index diameter 1.51±0.23 cm/m(2) vs. 2.00±0.45 cm/m(2), p<0.001) and similar to 103 control subjects(sinus index diameter 1.60±0.19 cm/m(2) vs. 1.59±0.17 cm/m(2), p=0.600 and tubular index diameter 1.51±0.23 cm/m(2) vs. 1.53±0.18 cm/m(2), p=0.519).
CONCLUSIONS: In our population, the BAV recurrence rate in FDRs was low (4.6%). The hereditary transmission of morphologic BAV types seems by chance, and the aortic dimensions in tricuspid FDRs are normal.
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Aortic dilatation; Bicuspid aortic valve; Hereditary patterns; Relatives

Mesh:

Year:  2013        PMID: 23684596     DOI: 10.1016/j.ijcard.2013.04.180

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN: 0167-5273            Impact factor:   4.164


  8 in total

1.  Comprehensive 4-stage categorization of bicuspid aortic valve leaflet morphology by cardiac MRI in 386 patients.

Authors:  I G Murphy; J Collins; A Powell; M Markl; P McCarthy; S C Malaisrie; J C Carr; A J Barker
Journal:  Int J Cardiovasc Imaging       Date:  2017-03-15       Impact factor: 2.357

2.  First-Degree Relatives Screening of Patients with Bicuspid Aortic Valve: Effectiveness and Feasibility in Pediatric Cardiology Daily Practice.

Authors:  Claire Massardier; Florence Desroches; Narcisse Singbo; Jean-Marc Côté; Christian Drolet; Christine Houde; Laurence Vaujois; Philippe Chetaille
Journal:  Pediatr Cardiol       Date:  2020-08-26       Impact factor: 1.655

3.  The American Association for Thoracic Surgery consensus guidelines on bicuspid aortic valve-related aortopathy: Full online-only version.

Authors:  Michael A Borger; Paul W M Fedak; Elizabeth H Stephens; Thomas G Gleason; Evaldas Girdauskas; John S Ikonomidis; Ali Khoynezhad; Samuel C Siu; Subodh Verma; Michael D Hope; Duke E Cameron; Donald F Hammer; Joseph S Coselli; Marc R Moon; Thoralf M Sundt; Alex J Barker; Michael Markl; Alessandro Della Corte; Hector I Michelena; John A Elefteriades
Journal:  J Thorac Cardiovasc Surg       Date:  2018-08       Impact factor: 5.209

Review 4.  Surgical treatment of bicuspid aortic valve disease: knowledge gaps and research perspectives.

Authors:  Alessandro Della Corte; Simon C Body; Anna M Booher; Hans-Joachim Schaefers; Rita K Milewski; Hector I Michelena; Arturo Evangelista; Philippe Pibarot; Patrick Mathieu; Giuseppe Limongelli; Prem S Shekar; Sary F Aranki; Andrea Ballotta; Giuseppe Di Benedetto; Natzi Sakalihasan; Gianantonio Nappi; Kim A Eagle; Joseph E Bavaria; Alessandro Frigiola; Thoralf M Sundt
Journal:  J Thorac Cardiovasc Surg       Date:  2014-01-21       Impact factor: 5.209

5.  Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.

Authors:  Elizabeth M Bonachea; Gloria Zender; Peter White; Don Corsmeier; David Newsom; Sara Fitzgerald-Butt; Vidu Garg; Kim L McBride
Journal:  BMC Med Genomics       Date:  2014-09-26       Impact factor: 3.063

6.  Experimental evidence of the genetic hypothesis on the etiology of bicuspid aortic valve aortopathy in the hamster model.

Authors:  María Teresa Soto-Navarrete; Bárbara Pozo-Vilumbrales; Miguel Ángel López-Unzu; Carmen Rueda-Martínez; M Carmen Fernández; Ana Carmen Durán; Francisco Javier Pavón-Morón; Jorge Rodríguez-Capitán; Borja Fernández
Journal:  Front Cardiovasc Med       Date:  2022-08-08

Review 7.  Unraveling Bicuspid Aortic Valve Enigmas by Multimodality Imaging: Clinical Implications.

Authors:  Arturo Evangelista Masip; Laura Galian-Gay; Andrea Guala; Angela Lopez-Sainz; Gisela Teixido-Turà; Aroa Ruiz Muñoz; Filipa Valente; Laura Gutierrez; Ruben Fernandez-Galera; Guillem Casas; Alejandro Panaro; Alba Marigliano; Marina Huguet; Teresa González-Alujas; Jose Rodriguez-Palomares
Journal:  J Clin Med       Date:  2022-01-17       Impact factor: 4.241

8.  Family screening in patients with isolated bicuspid aortic valve : Restriction to those with aortic dilatation is not justified.

Authors:  L Cozijnsen; R L Braam; M Bakker-de Boo; A M Otten; J G Post; T Schermer; B J Bouma; B J M Mulder
Journal:  Neth Heart J       Date:  2021-09-02       Impact factor: 2.380

  8 in total

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