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

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 

机构地区：[1]Department of Emergency and Organ Transplantation,Cardiology Unit of Policlinic University of Bari,Bari 70124,BA,Italy [2]Division of Medical Genetics,Department of Biomedical Sciences and Human Oncology,Policlinic University of Bari,Bari 70124,BA,Italy

出　　处：《World Journal of Clinical Cases》2021年第25期7472-7477,共6页世界临床病例杂志

摘　　要：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 disease.Early diagnosis is essential,as these conditions can first manifest themselves with sudden cardiac death.Electrical 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 preserved.CASE 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 hypotension.The 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 significant.During 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 gene.While 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 lockdown.CONCLUSIONThis 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 

分 类 号：R541[医药卫生—心血管疾病]