Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

Abstract

Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV) were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

Linksventrikuläre Non-Compaction-Kardiomyopathie

“…3 "Genlandkarte" über in der Literatur beschriebene Gene, die bei Mutation kausal mit spezifischen Kardiomyopathien in Verbindung gebracht wurden. Es ist ersichtlich, dass bei LVNC-Kardiomyopathie keine eindeutige Genotyp-Phänotyp-Korrelation besteht, sondern dass Mutationen in "LVNC-Genen" häufig auch andere Kardiomyopathien verursachen [16]. ** Die sehr seltenen Mutationen in diesen Genen sind aus Herzmuskelperspektive eher mit LVNC-Kardiomyopathie als mit anderen Kardiomyopathien assoziiert, jedoch sind auch diese Gene z.…”

“…Außerdem variieren Schweregrad und Beginn der Symptomatik bei ein und derselben Mutation mitunter sehr deutlich, bis hin zu Individuen, die trotz vorhandener, klar als pathogen eingestufter Mutation in einem LVNC-assoziierten Gen ihr Leben lang kein nennenswertes Herzproblem entwickeln. [16,17].…”