The evolution of technology has allowed heart rate monitoring devices to become smaller and smaller, putting them within the reach of each individual whether through a cell phone, small dedicated devices or even watches that allow continuous monitoring of the rhythm and performing an electrocardiogram.

There are two main forms of monitoring, one of which is based on plethysmography, either by light and cell phone cameras, sensors attached to fingertips, or on watches. This plethysmography technique allows even non-purpose cell phones to obtain a reasonably accurate heart rate reading, allowing heart rate counting and identification of rhythm irregularities that may be associated with atrial fibrillation. However, it is important to note that whenever an arrhythmia is detected in plethysmography-based devices, it must be confirmed by electrocardiogram.

The second way, more precise, but requiring adapted or dedicated devices, consists of reading the electrocardiogram itself. The devices contain electrodes that allow the capture of electrical signals from the heart, being able to record two leads when there are only two electrodes, but being able to record up to six leads in devices with more than two electrodes. This technology associated with artificial intelligence systems allows, in addition to recording the ECG, its interpretation, being able to alert the patient of the appearance of atrial fibrillation, high or low heartbeats.

Recently, the European Heart Rhythm Association (EHRA) prepared, with the contribution of LAHRS, a document entitled “How to use digital devices to detect and manage arrhythmias: a practical guide for EHRA” (1) where the characteristics and applications of these devices are described, discussed in a very interesting and in-depth way, including recommendations based on expert consensus are presented in this document.

Regarding the monitoring of Atrial Fibrillation (Figure 1), the intermittent use of these devices is indicated and is beneficial in people over 75 years of age, and they can also be used in people over 65 years of age with comorbidities that increase the risk of stroke. In younger or lower-risk individuals, sporadic screening can be performed, but in these cases, due to the very low incidence of AF, they have low detection rates. An important point regarding the detection of AF is that, when it was identified and evaluated in relation to the use of anticoagulants and risk factor management, there was evidence of benefits in the prevention of embolic events. (2)

Figure 1 – Electrocardiogram demonstrating atrial fibrillation detected on a watch with electrocardiogram recording

In patients with a previous diagnosis of AF, these devices also play an interesting role in patient management. The use of these devices can contribute to improving commitment and adherence to the ABC (3) strategy for the management of AF. Another very interesting use of these devices is after the AF ablation procedure, with the aim of detecting cases of recurrence during follow-up, which allows for better drug adjustment.

Another population where devices can help conventional treatment are patients with ventricular arrhythmias and syncope (Figure 2). However, one of the limitations of these devices is that they do not promote continuous electrocardiographic monitoring, and must be activated or inserted by the patient. In such cases, self-adhesive patch-based devices with continuous monitoring may be beneficial. Patients with paroxysmal palpitations lasting a few minutes, generally when they go to the emergency room to record the arrhythmia, they revert before arriving and, as the episodes are sporadic, often cannot be recorded on Holter or symptomatic event monitor. Currently, with the use of detection devices, it is easy to record the arrhythmia tracing, often identifying supraventricular tachycardias that are susceptible to ablation and complete control of the arrhythmia.

Figure 2 – Documented ventricular tachycardia in a patient with ischemic cardiomyopathy, inferior scarring, and episodes of short-duration rhythmic tachycardia palpitations. The recorded episode was hemodynamically well tolerated and lasted approximately 5 minutes with spontaneous reversal. The patient underwent ventricular tachycardia ablation in evolution, with no recurrence after ablation

Currently, more and more patients will carry these devices, bringing benefits in the diagnosis and treatment of cardiac arrhythmias, so it is extremely important that the doctors involved know the characteristics, advantages and disadvantages of each device, as well as its use in the different cardiac arrhythmias, being this publication of great relevance for the doctors of our society.

Dr. Cristiano Pisani

Assistant Physician of the Arrhythmia Unit of the Heart Institute – HC/FMUSP

1. Svennberg E, Tjong F, Goette A, Akoum N, Di Biase L, Bordachar P, et al. How to use digital devices to detect and manage arrhythmias: an EHRA practical guide. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology. 2022.

2. Svennberg E, Friberg L, Frykman V, Al-Khalili F, Engdahl J, Rosenqvist M. Clinical outcomes in systematic screening for atrial fibrillation (STROKESTOP): a multicentre, parallel group, unmasked, randomised controlled trial. Lancet. 2021;398(10310):1498-506.

3. Hindricks G, Potpara T, Dagres N, Arbelo E, Bax JJ, Blomstrom-Lundqvist C, et al. 2020 ESC Guidelines for the diagnosis and management of atrial fibrillation developed in collaboration with the European Association for Cardio-Thoracic Surgery (EACTS): The Task Force for the diagnosis and management of atrial fibrillation of the European Society of Cardiology (ESC) Developed with the special contribution of the European Heart Rhythm Association (EHRA) of the ESC. European heart journal. 2021;42(5):373-498.

As we celebrate the 20th anniversary of the European Heart Rhythm Association, it is an honor to recognize the collaboration with the Latin American Heart Rhythm Society, our “younger” sister society. Together, we have accomplished much in the field of cardiac arrhythmias and electrophysiology.

Through joint scientific meetings, educational initiatives, and the sharing of expertise, we have strengthened the field and improved patient outcomes. Our shared commitment to advancing the diagnosis and treatment of heart rhythm disorders has brought us closer as societies, and we are proud of the progress we have made together.

As we look towards the future, we are excited to continue this collaboration and expand our efforts to reach even more patients in need. We are grateful for the contributions of all members of the European Heart Rhythm Association and the Latin American Heart Rhythm Society, and we look forward to many more years of partnership and progress.

LAHRS executive board

When we read the research carried out by Guerra et al. (1) Regarding the use of electronic means in medical practice, we were curious to know what the situation was in Latin America. We intuitively knew that technological advances and, mainly, the need to work remotely due to the pandemic catalyzed their use, but we did not quantify them. We also made it important that the LAHRS become institutionally involved in the matter (2).

A large majority of those interviewed send (89%) and receive (98%) clinical data from patients through two instant message applications. That allows us to affirm that it is an integral part of medical practice. The instruments that we use are the ones that are more widespread in the region and the data obtained is more of an assessment of the situation of the digital market. The type of information shared is expected according to the specialties of the two doctors surveyed. At the top of the list are the different recording modalities of cardiac electrical activity. A majority of two electrophysiologists (71%) stated that they send the information without using the patient’s affiliation data, but 51% stated that they receive clinical information with data that would allow their identification. In that difference we see an important aspect to be reflected. In addition, it is believed that the legal regulations relating to the exchange of sensitive information are not known and, therefore, it is possible that they are not a cause for concern.

The work does not inquire about the use of new technologies that are used between patients and their doctors. This aspect is also an important issue. The heterogeneity in use is probably even greater and may be the cause of inequity in care. They also generate situations of potential risk for patients and doctors. To the former, in their quality of assistance and to the latter in the legal medical field. Another actor involved is the assistance institutions. During the pandemic they were forced to look for alternatives to face-to-face care and this has introduced instruments that will probably last after the emergency. Here are added labor relationship issues with health personnel, which often have not been formally resolved.

It is undeniable that the new information and communication technologies are here to stay. Medical deontology and ethics are also evolving, but not at the same speed. In many respects today they are being challenged. The legislation on the subject in each country can vary and in many it is non-existent. We insist that the survey carried out shows the lack of knowledge we have about this aspect.

In all countries there are codes of medical ethics that we cannot ignore. We also have the code of medical ethics of the World Medical Association (3). There it is established that we have the obligation to “respect the patient’s right to confidentiality. It is ethical to disclose confidential information when the patient gives consent…”. It also says that the physician must “when medically necessary, communicate with colleagues caring for the same patient” and “This communication must respect the patient’s confidentiality and be limited to necessary information”.

These precepts are prior to the existence of new technologies. The question is when and how much should we update them.

Dr. Alejandro N. Cuesta Holgado PhD FESC
Cardiologist – Pediatric Cardiologist – Electrophysiologist
Prof. Adj. University Cardiovascular Center, Clinic Hospital, UdelaR
Head of the Arrhythmia Service, Institute of Integral Cardiology, MUCAM, Montevideo
Pro-Treasurer LAHRS

References:

1. Guerra, F., Linz, D., Garcia, R., Kommata, V., Kosiuk, J., Chun, J., Boveda, S., Duncker D. Use and misuse of instant messaging in clinical data sharing: the EHRA-SMS survey. Europace. 2021 Aug 6;23(8):1326-1330. doi: 10.1093/europace/euab063

2. de Oliveira Figueiredo, M. J., Cuesta, A., Duncker, D., Boveda, S., Guerra, F., Márquez, M. F. Use of instant messaging in electrophysiological clinical practice in Latin America: a LAHRS survey. Europace. 2022 Jun 21:euac080. doi: 10.1093/europace/euac080
3. https://www.wma.net/es/policies-post/codigo-internacional-de-etica-medica/

xpert Consensus Statement EHRA/HRS/APHRS/LAHRS on the State of Genetic Testing for Cardiac Diseases

Knowledge about the genetic basis of cardiovascular diseases has made significant progress in recent decades, with the incorporation of new technologies in molecular diagnosis, functional characterization efforts, artificial intelligence, and strengthening of the genotype-phenotype association. The reduced cost of genetic sequencing allowed for widespread access to testing, making it an important part of clinical practice in cardiology. Eleven years after the first document published by Ackerman et al, (1) concepts and recommendations were updated, with multicontinental participation, including the Latin American Heart Rhythm Society (LAHRS). (2)

The basic principle for the use of clinical genetic tests is the understanding that the genes evaluated must have strong scientific evidence of association with the disease (for classification, see https://clinicalgenome.org/). In 2015, the American College of Medical Genetics and Genomics (3) provided a standard criteria-based approach to interpreting genetic variants in clinical trials. The sum of the tests leads to a classification of the variant in a probabilistic range of categories: pathogenic (pathogenic, P), probably pathogenic (probably pathogenic, LP), variant of uncertain significance (VUS), probably benign (probably benign, LB) and benign (benign, B). The VUS classification represents the challenge of current clinical practice when the experience of specialized and multidisciplinary centers is even more necessary.

Family counseling plays a fundamental role in providing guidance on the clinical impact of genetic tests for the testers and their relatives, being recommended before and after molecular diagnosis, in centers of experience in cardiovascular genetics. The clinically actionable outcome (presence of LP/P variants) can provide diagnostic, prognostic, and therapeutic information for the tester, depending on the disease investigated (Table 1). The main benefit of genetic testing is family cascade screening, i.e. accurately identifying family members who are carriers of LP/P variants, who benefit from specialized medical care, and non-carrier family members who are unlikely to develop the disease. Progress in genetic testing in inherited cardiovascular diseases has also increased understanding of oligogenic and polygenic diseases through the development of polygenic scores.

SQTL: long QT syndrome, TVPC: catecholaminergic polymorphic ventricular tachycardia, Br: Brugada syndrome, DPSC: progressive wasting system disease, SQTC: congenital short QT syndrome, DNS: sinus node disease, AF: atrial fibrillation, Early Rep: early repolarization, CMH: hypertrophic cardiomyopathy, CMD: dilated cardiomyopathy, CMA: arrhythmogenic cardiomyopathy, MNC: non-compaction myocardium, CMR: restrictive cardiomyopathy.

The consensus provides disease-specific information organized into a disease summary, genes with strong and moderate association with phenotype (suggestion of which panel to order), as well as therapeutic and prognostic implications of genetic testing for the tester and their relatives. In family counseling, the recommended age to perform the genetic test is also specific to the diagnosis and age of clinical presentation in the family. In general, in channelopathies such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome, genetic testing is indicated from birth, since there are strategies for the prevention and treatment of life-threatening arrhythmias. In cardiomyopathies, on the other hand, the suggested age for genetic screening is between 10-12 years, due to age-dependent penetrance, unless there is a family history of a phenotype developed in childhood.

Long QT syndrome represents the disease with the highest performance and usefulness of genetic tests, when the pre-test clinical probability is high (Schwartz score  3.5), helping in the classification of subtypes 1 to 3, in the identification of syndromic forms. (Jervel Langue-Nilsen, Andersen Tawil, Thimoty and Triadin knockout) and calmodulinopathies (CALM1, CALM2 and CALM3). In hypertrophic cardiomyopathy, the distinction between sarcomeric disease and phenocopies such as Danon, Fabry, amyloidosis, and PRKAG2 syndrome can also guide specific medical follow-up and influence treatment.

Unlike the 2011 consensus, (1) atrial fibrillation (AF), progressive conduction system disease, and sinus node disease appear to be more based on a context of monogenetic inheritance or associated with other channelopathies/cardiomyopathies (overt or No). Another significant change in the current consensus was the weight of the genetic test in arrhythmogenic and dilated cardiomyopathies, since molecular diagnosis allows a more precise clinical stratification, with the development of new risk calculators, contributing to therapeutic decisions such as the indication of an implantable cardioverter-defibrillator (ICD).

The current consensus also provides recommendations for genetic testing in congenital heart disease. When congenital heart disease is diagnosed by fetal ultrasound (CHD), genetic testing of fetal tissue (chromosomal microarray or CNV sequencing) should be offered for pregnancy monitoring and genetic counseling.

It is easy to understand, therefore, that “genetic cardiology” is a new field of medicine, with specialists involved in the translation of genetic findings, reflecting on better clinical care. New gaps are emerging, and old challenges remain, including the accurate classification and interpretation of variants. The prospect is the development of gene therapy together with the precise identification of the disease-causing substrate, allowing not only genotype-guided therapies, but also gene-specific therapies, including variant-specific therapies.

Link: https://lahrs.org/guias/test-genetico-en-cardiopatias/

Dra. Luciana Sacilotto
MD, PhD, arrhythmologist focused on inherited Cardiac disease at University of Sao Paulo

Biobliography

1. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace. 2011 Aug;13(8):1077-109. PubMed PMID: 21810866. eng.

2. Wilde AAM, Semsarian C, Márquez MF, Sepehri Shamloo A, Ackerman MJ, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases. Heart Rhythm. 2022 Apr 4:S1547-5271(22)01697-6. doi: 10.1016/j.hrthm.2022.03.1225.

3. Sue R, Nazneen A, Sherri B, David B, Soma Das et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.