{"id":5967,"date":"2026-10-19T09:48:15","date_gmt":"2026-10-19T09:48:15","guid":{"rendered":"https:\/\/phd.hi.is\/doktorsvorn\/doktorsvorn-i-laeknavisindum-berglind-adalsteinsdottir\/"},"modified":"2026-10-19T09:48:15","modified_gmt":"2026-10-19T09:48:15","slug":"doktorsvorn-i-laeknavisindum-berglind-adalsteinsdottir","status":"publish","type":"phd_defence","link":"https:\/\/phd.hi.is\/en\/doktorsvorn\/doktorsvorn-i-laeknavisindum-berglind-adalsteinsdottir\/","title":{"rendered":"Doktorsv\u00f6rn \u00ed l\u00e6knav\u00edsindum &#8211; Berglind A\u00f0alsteinsd\u00f3ttir"},"content":{"rendered":"<div class=\"field-items\">\n<div class=\"field-item even\" property=\"content:encoded\">\n<p>\u00deri\u00f0judaginn 14. ma\u00ed ver Berglind A\u00f0alsteinsd\u00f3ttir doktorsritger\u00f0 s\u00edna \u00ed l\u00e6knav\u00edsindum vi\u00f0 L\u00e6knadeild H\u00e1sk\u00f3la \u00cdslands. Ritger\u00f0in ber heiti\u00f0: <strong>Arfger\u00f0 og svipger\u00f0 ofvaxtarhjartav\u00f6\u00f0vakvilla \u00e1 \u00cdslandi. Hypertrophic Cardiomyopathy in Iceland &#8211; A Nationwide Genotype &#8211; Phenotype Study.<\/strong><\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p>Andm\u00e6lendur eru dr. Perry M. Elliott, pr\u00f3fessor vi\u00f0 University College \u00ed London, og dr. Stellan M\u00f6rner, d\u00f3sent vi\u00f0 H\u00e1sk\u00f3lann \u00ed Ume\u00e5.<\/p>\n<p>\u00a0<\/p>\n<p>Umsj\u00f3narkennari og lei\u00f0beinandi var dr. Gunnar \u00de\u00f3r Gunnarsson, lektor vi\u00f0 L\u00e6knadeild, og me\u00f0lei\u00f0beinandi var Hilma H\u00f3lm, s\u00e9rfr\u00e6\u00f0ingur hj\u00e1 \u00cdslenskri erf\u00f0agreiningu.<\/p>\n<p>Auk \u00feeirra s\u00e1tu \u00ed doktorsnefnd \u00feau dr. Dav\u00ed\u00f0 O. Arnar, gestapr\u00f3fessor, Barry J. Maron, yfirl\u00e6knir vi\u00f0 Tufts Medical Center \u00ed Boston, og dr. Jonathan G. Seidman, pr\u00f3fessor vi\u00f0 Harvard Medical School \u00ed Boston.<\/p>\n<p>\u00a0<\/p>\n<p>Dr. Ingibj\u00f6rg Har\u00f0ard\u00f3ttir, pr\u00f3fessor og varaforseti L\u00e6knadeildar H\u00e1sk\u00f3la \u00cdslands, stj\u00f3rnar ath\u00f6fninni.<\/p>\n<p>\u00a0<\/p>\n<p>\u00a0<\/p>\n<p><strong>\u00c1grip af ranns\u00f3kn<\/strong><\/p>\n<p>Ofvaxtarhjartav\u00f6\u00f0vakvilli (OHK) er arfgengur hjartasj\u00fakd\u00f3mur sem einkennist af \u00feykknun hjartav\u00f6\u00f0va. Sj\u00fakd\u00f3msmyndin er breytileg, margir eru einkennalausir en sj\u00fakd\u00f3murinn getur valdi\u00f0 hjartabilun, hjartsl\u00e1ttartruflunum og skyndidau\u00f0a.<\/p>\n<p>\u00a0<\/p>\n<p>Meginmarkmi\u00f0 ranns\u00f3knarinnar var a\u00f0 kanna algengi, arfger\u00f0 og svipger\u00f0 OHK \u00e1 \u00cdslandi. Leitast var vi\u00f0 a\u00f0 finna alla sj\u00faklinga sem greinst h\u00f6f\u00f0u me\u00f0 OHK \u00e1 \u00cdslandi \u00e1 t\u00edmabilinu 1997-2010 og \u00feeim bo\u00f0in \u00fe\u00e1tttaka \u00ed erf\u00f0aranns\u00f3kn. \u00cd framhaldinu var \u00feeim sem greindust me\u00f0 sj\u00fakd\u00f3msvaldandi st\u00f6kkbreytingu og n\u00e1num \u00e6ttingjum \u00feeirra bo\u00f0in \u00fe\u00e1tttaka \u00ed frekari ranns\u00f3kn. Alls greindust 180 sj\u00faklingar me\u00f0 OHK, \u00fear af gengust 151 undir erf\u00f0aranns\u00f3kn sem leiddi til greiningar \u00e1 sj\u00fakd\u00f3msvaldandi st\u00f6kkbreytingu hj\u00e1 101 einstaklingi (67%). Megin\u00feorri \u00feeirra h\u00f6f\u00f0u s\u00f6mu st\u00f6kkbreytingu\u00a0 \u00ed MYBPC3geninu (c.927-2A&gt;G). Fj\u00f6lskylduskimun 225 fyrstu gr\u00e1\u00f0u \u00e6ttingja leiddi til greiningar \u00e1 108 arfberum st\u00f6kkbreytingarinnar. Af \u00feeim var um \u00fea\u00f0 bil helmingur me\u00f0 merki um sj\u00fakd\u00f3minn. Karlar sem bera st\u00f6kkbreytinguna vir\u00f0ast vera l\u00edklegri en konur til a\u00f0 \u00fer\u00f3a me\u00f0 s\u00e9r sj\u00fakd\u00f3minn \u00e1 yngri \u00e1rum en \u00e1h\u00e6ttan eykst me\u00f0 aldri hj\u00e1 b\u00e1\u00f0um kynjum. Sameiginleg setr\u00f6\u00f0 umhverfis st\u00f6kkbreytinguna bendir til a\u00f0 \u00feessir einstaklingar hafi erft st\u00f6kkbreytinguna fr\u00e1 sameiginlegum forf\u00f6\u00f0ur fr\u00e1 15. \u00f6ld. \u00c1\u00e6tla\u00f0 algengi st\u00f6kkbreytingarinnar \u00e1 \u00cdslandi er 0.36% og fj\u00f6ldi arfbera \u00fev\u00ed um 1200 manns.<\/p>\n<p>\u00a0<\/p>\n<p>Ranns\u00f3knin leiddi einnig \u00ed lj\u00f3s a\u00f0 5% sj\u00faklinga (8 einstaklingar) sem h\u00f6f\u00f0u greinst me\u00f0 OHK reyndust hafa sjaldg\u00e6fan efnaskiptasj\u00fakd\u00f3m, svokalla\u00f0an Fabry sj\u00fakd\u00f3m. Skortur \u00e1 ens\u00edminu \u03b1-galakt\u00f3s\u00eddasa getur valdi\u00f0 fj\u00f6ll\u00edff\u00e6rakerfasj\u00fakd\u00f3mi sem getur me\u00f0al annars lagst \u00e1 hjarta, taugakerfi og n\u00fdru. Fj\u00f6lskylduskimun leiddi til greiningar \u00e1 33 einstaklingum til vi\u00f0b\u00f3tar me\u00f0 Fabry sj\u00fakd\u00f3m. Sj\u00fakd\u00f3minn er h\u00e6gt a\u00f0 me\u00f0h\u00f6ndla me\u00f0 ens\u00edmuppb\u00f3tarme\u00f0fer\u00f0 og \u00fev\u00ed er r\u00e9tt greining mikilv\u00e6g. Me\u00f0fer\u00f0in er einkum \u00e1rangursr\u00edk hefjist h\u00fan snemma, \u00e1\u00f0ur en l\u00edff\u00e6raskemmdir hafa \u00e1tt s\u00e9r sta\u00f0.\u00a0 \u00a0\u00a0\u00a0<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>Um doktorsefni\u00f0<\/strong><\/p>\n<p>Berglind A\u00f0alsteinsd\u00f3ttir lauk st\u00fadentspr\u00f3fi af n\u00e1tt\u00farufr\u00e6\u00f0i- og e\u00f0lisfr\u00e6\u00f0ibraut Fj\u00f6lbrautask\u00f3la Su\u00f0urnesja \u00e1ri\u00f0 1999 og emb\u00e6ttispr\u00f3fi \u00ed l\u00e6knisfr\u00e6\u00f0i fr\u00e1 H\u00e1sk\u00f3la \u00cdslands \u00e1ri\u00f0 2006. H\u00fan lauk s\u00e9rn\u00e1mi \u00ed almennum lyfl\u00e6kningum \u00e1ri\u00f0 2015 og s\u00e9rn\u00e1mi \u00ed hjartal\u00e6kningum \u00feremur \u00e1rum s\u00ed\u00f0ar. Fr\u00e1 \u00e1rinu 2014 hefur Berglind starfa\u00f0 \u00e1 hjartadeild Haukeland h\u00e1sk\u00f3lasj\u00fakrah\u00fassins \u00ed Bergen \u00ed Noregi. Foreldrar Berglindar eru A\u00f0alsteinn K. Gu\u00f0mundsson og Au\u00f0ur H. J\u00f3natansd\u00f3ttir. Eiginma\u00f0ur Berglindar er Arnar \u00de\u00f3r Emilsson og eiga \u00feau d\u00e6turnar K\u00f6tlu Mar\u00edu 8 \u00e1ra og Tinnu 3 \u00e1ra.<\/p>\n<\/div><\/div>","protected":false},"featured_media":1126,"template":"","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"_phd_date_start":"2019-05-14T13:00:00+00:00","_phd_date_end":"2019-05-14T15:30:00+00:00","_phd_location":"A\u00f0albygging H\u00e1t\u00ed\u00f0asalur","_phd_admission":"A\u00f0gangur \u00f3keypis","_phd_thesis_title":"Arfger\u00f0 og svipger\u00f0 ofvaxtarhjartav\u00f6\u00f0vakvilla \u00e1 \u00cdslandi. Hypertrophic Cardiomyopathy in Iceland - A Nationwide Genotype - Phenotype Study","_phd_source_url":"https:\/\/gamli.hi.is\/vidburdir\/doktorsvorn_i_laeknavisindum_berglind_adalsteinsdottir","_phd_source_node_id":"317009","_phd_source_type":"vidburdir","_phd_member_id":127,"footnotes":""},"phd_school":[60,67],"phd_discipline":[69],"class_list":["post-5967","phd_defence","type-phd_defence","status-publish","has-post-thumbnail","hentry","phd_school-heilbrigdisvisindasvid","phd_school-laeknadeild","phd_discipline-phd-i-laeknavisindum"],"_links":{"self":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_defence\/5967","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_defence"}],"about":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/types\/phd_defence"}],"version-history":[{"count":0,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_defence\/5967\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/media\/1126"}],"wp:attachment":[{"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/media?parent=5967"}],"wp:term":[{"taxonomy":"phd_school","embeddable":true,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_school?post=5967"},{"taxonomy":"phd_discipline","embeddable":true,"href":"https:\/\/phd.hi.is\/en\/wp-json\/wp\/v2\/phd_discipline?post=5967"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}