Hipertrofijska kardiomiopatija

master's thesis

• Title (english): Hypertrophic cardiomyopathy
• Author: Dora Cerovec
• Mentor: Diana Delić-Brkljačić (mentor)
• Committee member: Vesna Degoricija (predsjednik povjerenstva)
• Committee member: Jasenka Markeljević (član povjerenstva)
• Committee member: Diana Delić-Brkljačić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2014-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Hipertrofijska kardiomiopatija (HCM) česta je genetska bolest srca s prevalencijom 1 na 500
osoba opće populacije. HCM jedna je od najčešćih uzroka iznenadne srčane smrti (sudden
cardiac death, SCD) u mladih osoba i sportaša. HCM uzrokuju mutacije različitih gena koji
kodiraju proteine sarkomere. Nejednaka ekspresija zahvaćenih gena dovodi do različite
kliničke slike čak i unutar iste obitelji. Klinička slika HCM kreće se od asimptomatske
hipertrofije lijeve klijetke (LV) pa sve do uznapredovanog zatajenja srca koje zahtjeva
transplantaciju ili nastupa SCD. Najčešći simptom je zaduha tijekom tjelesnog napora, a
mogu biti prisutni simptomi poput presinkopa, sinkopa, bolova u prsima i palpitacija.
Fibrilacija atrija (AF) česta je u bolesnika s HCM i dijelom je povezana s pogoršanjem
simptoma i tromboembolijskim incidentima. Hemodinamski HCM karakterizira opstrukcija
izlaznog trakta lijeve klijetke (LVOT) s prisustvom sistoličkog gradijenta tlaka, koja najčešće
nastaje zbog sistoličkog pomaka prednjeg mitralnog kuspisa (systolic anterior motion, SAM) i
njegovog dodira s hipertrofiranim interventrikularnim septumom. Dijagnoza HCM postavlja se
ehokardiografskim nalazom hipertrofije stijenke nedilatirane LV koja prelazi 15 mm uz
isključenje drugih uzroka hipertrofije. Magnetna rezonancija srca (CMR) može dodatno
pomoći u prikazu hipertrofije i procjeni opstrukcije LVOT. Druge dijagnostičke metode, poput
elektrokardiografije (EKG), ergometrije i elektrofiziološkog testiranja pridonose diferencijalnoj
dijagnostici HCM, procjeni funkcionalnog kapaciteta bolesnika i rizika od SCD. Genetska
testiranja služe za probir na HCM unutar obitelji zahvaćenog bolesnika te potvrdu dijagnoze
u nejasnim slučajevima. Liječenje HCM temelji se na ublažavanju simptoma i prevenciji SCD.
Od lijekova u terapiji HCM koriste se β adrenergičke antagoniste, blokatore kalcijevih kanala i
antiaritmike. Invazivne metode liječenja su kirurška septalna miektomija ili alkoholna ablacija
interventrikulskog septuma. Kao mjera prevencije SCD u pacijenata s povećanim rizikom od
SCD može se ugraditi kardioverter defibrilator (ICD). Godišnja smrtnost osoba s HCM iznosi
1%.

Abstract (english)

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease with a
prevalence of 1 out of 500 people in general population. HCM is one of the most common
causes of sudden cardiac death (SCD) in young people and athletes. HCM is caused by a
variety of mutations affecting sarcomere protein encoding genes. Uneven expression of the
affected genes leads to a variety in clinical manifestation even within the same family. The
clinical manifestation of HCM ranges from asymptomatic hypertrophy of the left ventricle (LV)
to end-stage heart failure requiring heart transplantation or onset of SCD. The most common
symptom is exertional dyspnea. Symptoms such as presyncope, syncope, chest pain and
palpitations may also be present. Atrial fibrillation (AF) is common among HCM patients and
is linked to symptom deterioration and thromboembolic events. The hemodynamic features
of HCM include a left ventricular outflow tract (LVOT) obstruction with a systolic pressure
gradient which is predominately a result of systolic anterior motion (SAM) of the anterior
mitral leaflet and its contact with the hypertrophic interventricular septum. The diagnosis of
HCM is based on an echocardiographic finding of a non-dilated LV hypertrophy with a wall
thickness exceeding 15 mm with the exclusion of other causes of LV hypertrophy. Cardiac
magnetic resonance (CMR) imaging can further aid in the visualization of hypertrophy and
assessment of LVOT obstruction. Other diagnostic methods, such as electrocardiography
(EKG), exercise testing and electrophysiological testing contribute to the differential
diagnosis of HCM, functional capacity and SCD risk assessment. Genetic testing is used for
HCM screening among the relatives of the affected patient and the confirmation of the
diagnosis in unclear cases. The treatment of HCM is based on symptom alleviation and
prevention of SCD. The medication used in treatment of HCM includes β adrenergic
antagonists, calcium channel blockers and antiarrhytmics. Invasive treatment procedures
include surgical septal miectomy or alcohol septal ablation. An implantable cardioverter
defibrillator (ICD) device can be implanted in high risk patients as a mean of prevention of
SCD. The yearly mortality of HCM is 1%.

• Keywords: hipertrofijska kardiomiopatija; hipertrofijska opstruktivna kardiomiopatija; obiteljska hipertrofijska kardiomiopatija; idiopatska hipertrofijska subaortalna stenoza
• Keywords (english): hypertrophic cardiomyopathy; hypertrophic obstructive cardiomyopathy; familial hypertrophic cardiomyopathy; idiopathic hypertrophic subaortic stenosis
• Language: croatian
• URN:NBN: urn:nbn:hr:105:842609
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2015-09-28 10:01:45