Santobuono VE, Guaricci AI, Carulli E, Bozza N, Pepe M, Ranauro A, Ranieri C, Carella MC, Loizzi F, Resta N, Favale S, Forleo C. Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report. World J Clin Cases 2021; 9(25): 7472-7477 [PMID: 34616814 DOI: 10.12998/wjcc.v9.i25.7472]
Corresponding Author of This Article
Vincenzo Ezio Santobuono, MD, PhD, Doctor, Department of Emergency and Organ Transplantation, Cardiology Unit of Policlinic University of Bari, Piazza Giulio Cesare 11, Bari 70124, BA, Italy. eziosantobuono@gmail.com
Research Domain of This Article
Cardiac & Cardiovascular Systems
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Sep 6, 2021; 9(25): 7472-7477 Published online Sep 6, 2021. doi: 10.12998/wjcc.v9.i25.7472
Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report
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
Vincenzo Ezio Santobuono, Andrea Igoren Guaricci, Eugenio Carulli, Nicola Bozza, Martino Pepe, Alfredo Ranauro, Maria Cristina Carella, Francesco Loizzi, Stefano Favale, Cinzia Forleo, Department of Emergency and Organ Transplantation, Cardiology Unit of Policlinic University of Bari, Bari 70124, BA, Italy
Carlotta Ranieri, Nicoletta Resta, Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology, Policlinic University of Bari, Bari 70124, BA, Italy
Author contributions: All authors played a key-role in the diagnostic and therapeutic workup of the patient, contributed to the writing of the manuscript, and approved the final version to be submitted.
Informed consent statement: The patient provided oral and written informed consent prior to study enrolment.
Conflict-of-interest statement: No conflicts of interest to declare.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared according to the CARE checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Vincenzo Ezio Santobuono, MD, PhD, Doctor, Department of Emergency and Organ Transplantation, Cardiology Unit of Policlinic University of Bari, Piazza Giulio Cesare 11, Bari 70124, BA, Italy. eziosantobuono@gmail.com
Received: April 18, 2021 Peer-review started: April 18, 2021 First decision: May 24, 2021 Revised: May 26, 2021 Accepted: July 14, 2021 Article in press: July 14, 2021 Published online: September 6, 2021 Processing time: 134 Days and 13.9 Hours
Abstract
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 order to minimize in-person clinical evaluations during the coronavirus disease 2019-related lockdown.
CONCLUSION
This case aims to raise awareness of the cardiological manifestations of laminopathies, which can be dangerously misdiagnosed as other, more common conditions.
Core Tip: Cardiolaminopathy diagnosis, especially in its initial stage, is challenging. In presence of misleading factors, such as coronary stenosis, and limiting factors, such as the coronavirus disease 2019-related lockdown, the difficulties increase. Remote monitoring for assessing arrhythmic burden and clinical suspicion make it possible to safely diagnose this rare disease.
