EHRA White Paper: knowledge gaps in arrhythmia management-status 2019.

Clinicians accept that there are many unknowns when we make diagnostic and therapeutic decisions. Acceptance of uncertainty is essential for the pursuit of the profession: bedside decisions must often be made on the basis of incomplete evidence. Over the years, physicians sometimes even do not realize anymore which the fundamental gaps in our knowledge are. As clinical scientists, however, we have to halt and consider what we do not know yet, and how we can move forward addressing those unknowns. The European Heart Rhythm Association (EHRA) believes that scanning the field of arrhythmia / cardiac electrophysiology to identify knowledge gaps which are not yet the subject of organized research, should be undertaken on a regular basis. Such a review (White Paper) should concentrate on research which is feasible, realistic, and clinically relevant, and should not deal with futuristic aspirations. It fits with the EHRA mission that these White Papers should be shared on a global basis in order to foster collaborative and needed research which will ultimately lead to better care for our patients. The present EHRA White Paper summarizes knowledge gaps in the management of atrial fibrillation, ventricular tachycardia/sudden death and heart failure.

[Electric channels, genetics and cardiac sudden death. Brugada syndrome as an example]. / Canales eléctricos, genética y muerte súbita cardiaca. El síndrome Brugada como ejemplo.

Since the introduction of molecular biology techniques hereditary diseases can be studied. These techniques allow us to locate the gene that causes a disease in a family. The identification of this gene not only permits to diagnose and potentially treat those affected by the abnormal gene, but also helps in a better understanding of the pathophysiology and molecular basis of non-familial forms of the disease. Although these techniques have been incorporated slowly in the field of cardiology, now the speciality is completely submerged in molecular biology. The first gene that was found was that of hypertrophic cardiomyopathy, in 1989. Since then, we have advanced in all heart family illnesses. Hypertension, arteriosclerosis, congenital diseases and arrhythmias have benefited from these techniques. The understanding of arrhythmias that cause familial sudden death due to long QT syndrome or Brugada syndrome has progressed a lot. The first genetically guided therapy studies have shown that in the near future patients will receive a therapy according to their genetical default. Looking how fast these techniques are evolving, and the impressive advances of the Human Genome Project, probably the remaining genes causing familial diseases will be described in the coming years. These results are very encouraging and indicate a clear need to make a genetic diagnosis in all patients with these diseases. The diagnostic and therapeutic implications of these findings can be of enormous importance for our patients.