To Pace or to Defibrillate – Clinical Presentation of SCN5A Overlap Syndrome

  • Irina Rudaka (Speaker)
  • Natālija Nikrus (Co-author)
  • Vikmane, M. (Co-author)
  • Dmitrijs Rots (Co-author)
  • Gailīte, L. (Co-author)

Activity: Talk or presentation types › Poster presentation

Description

A 33 years old woman presented to cardiology clinic with a history of a syncope after waking up. On clinical investigation she had asymptomatic sinus bradycardia during day-time and intermittent type II second degree atrioventricular block during night-time. Echocardiography and cardiac magnetic resonance imaging did not show any structural or functional abnormalities. Common bradycardia causes (medication, metabolic, systemic and neurologic diseases) were excluded and whole exome sequencing was performed - patient  was positive for heterozygous likely pathogenic variant SCN5A NM_000335.4:c.3820G>A, p.Asp1274Asn. This particular variant is known to be associated with progressive cardiac conduction disease, sick sinus node disease, Brugada syndrome and dilated cardiomyopathy. Ajmaline test was negative, therefore Brugada syndrome was excluded and decision to implant a pacemaker was made. The mother (67 years old) of an index case had long-standing complains about palpitations, light-headness and she also experienced two syncopes previously. On previous clinical investigation she had only few ventricular premature beats (PMB) and no structural or functional abnormalities of the heart. Genetic testing was also performed – mother had same SCN5A heterozygous variant. Patient was admitted to cariology ward to undergo ajmaline testing and new Holter monitoring. During recording there were multiple sinus arrest and complete atrioventricular block episodes, 33000 monotopic ventricular PMB and spontaneous transient type 1 Brugada pattern. Therefore, a diagnosis of overlap syndrome (PCCD and Brugada syndrome) was made in mother with no need for ajmaline test. Due to high risk of sudden cardiac death in Brugada syndrome patients a cardioverter-defibrillator (ICD) was implanted. Cascade screening is ongoing in this family. This clinical case highlights the importance of genetic testing in diagnosis, treatment of cardiovascular disease and decision on which device to implant in particular.. .. .. .
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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