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Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient:A case report

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World Journal of Clinical Cases 2021年第25期9卷 7472-7477页

作者： Vincenzo Ezio Santobuono Andrea Igoren Guaricci eugenio carulli Nicola Bozza Martino Pepe Alfredo Ranauro Carlotta Ranieri Maria Cristina Carella Francesco Loizzi Nicoletta Resta Stefano Favale Cinzia Forleo Department of Emergency and Organ Transplantation Cardiology Unit of Policlinic University of BariBari 70124BAItaly Division of Medical Genetics Department of Biomedical Sciences and Human OncologyPoliclinic University of BariBari 70124BAItaly

BACKGROUND Laminopathies are rare diseases,whose cardiac manifestations are heterogeneous and,especially in their initial stage,similar to those of more common conditions,such as ischemic heart *** diagnosis is essential,as these conditions can first manifest themselves with sudden cardiac *** complications usually appear before structural complications;therefore,it is important to take into consideration these rare genetic disorders for the differential diagnosis of brady and tachyarrhythmias,even when left ventricle systolic function is still *** SUMMARY A 60-year-old man,without history of previous disorders,presented in September 2019 to the emergency department because of the onset of syncope associated with *** patient was diagnosed with a high-grade atrioventricular block.A dual chamber pacemaker was implanted,but after the onset of a sustained ventricular tachycardia during physical exertion,a drug eluting stent was implanted on an intermediate stenosis on the left anterior descending artery,which had previously been considered non-haemodynamically *** the follow-up,the treating cardiologist,suspicious of the overall clinical picture,recommended a genetic test for the diagnosis of cardiomyopathies,which tested positive for a pathogenetic mutation of the lamin A/C *** awaiting the result of the genetic test and,later,the pacemaker to be upgraded to a biventricular defibrillator,a remote monitoring device was given to the patient in 2019-related *** case aims to raise awareness of the cardiological manifestations of laminopathies,which can be dangerously misdiagnosed as other, more common conditions.

关键词： Lamin A/C-mutation Cardiolaminopathy Ventricular tachyarrhythmias Remote-monitoring COVID-19 Case report

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