Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms

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• 作者：Roberto Barriales-Villa^a ; ^{rbarrialesv@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Juan Ramó ; n Gimeno-Blanes^b ; Esther Zorio-Grima^c ; Tomá ; s Ripoll-Vera^d ; Artur Evangelista-Masip^e ; ^f ; Angel Moya-Mitjans^e ; ^g ; Luis Serratosa-Ferná ; ndez^h ; ⁱ ; Dimpna C. Albert-Brotons^j ; ^k ; José ; Manuel Garcí ; a-Pinilla^l ; ^m ; Pablo Garcí ; a-Paví ; aⁿ ; ^o
• 关键词：Cardiomyopathies ; Channelopathies ; Marfan syndrome ; Sudden cardiac death
• 刊名：Revista Española de Cardiología (English Edition)
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：69
• 期：3
• 页码：300-309
• 全文大小：419 K

文摘

The term inherited cardiovascular disease encompasses a group of cardiovascular diseases (cardiomyopathies, channelopathies, certain aortic diseases, and other syndromes) with a number of common characteristics: they have a genetic basis, a familial presentation, a heterogeneous clinical course, and, finally, can all be associated with sudden cardiac death. The present document summarizes some important concepts related to recent advances in sequencing techniques and understanding of the genetic bases of these diseases. We propose diagnostic algorithms and clinical practice recommendations and discuss controversial aspects of current clinical interest. We highlight the role of multidisciplinary referral units in the diagnosis and treatment of these conditions.