Læknablaðið - 15.04.2002, Qupperneq 13

FRÆÐIGREINAR / MEÐFÆDDIR HJARTAGALLAR
Nýgengi og greining meðfæddra
hjartagalla á íslandi 1990-1999
Sigurður Sverrir
Stephensen'
Gunnlaugur
Sigfússon1,2
Herbert Eiríksson'
Jón Þór
Sverrisson3
Bjarni Torfason1
Ásgeir
Haraldsson1,2
Hróðmar
Helgason1
'Barnaspítali Hringsins, Land-
spítala Hringbraut, 2Háskóli
íslands, 'Fjórðungssjúkrahúsið
á Akureyri.
Fyrirspurnir og bréfaskipti:
Gunnlaugur Sigfússon,
Barnaspítala Hringsins,
Landspítala Hringbraut.
Sími: 560 1294 / 560 1000,
gulli@landspitali.is
Lykilorð: meðfœddir
hjartagallar, nýgengi.
Ágrip
Inngangur: Talið er að eitt prósent lifandi fæddra
barna hafi meðfædda hjartagalla. Þekking á nýgengi
meðfæddra hjartagalla er mikilvæg vegna hættu á
hjartaþelsbólgu hjá sjúklingum með hjartagalla og til
að komast megi nær raunverulegum orsökum þeirra.
Tilgangur rannsóknarinnar var að kanna nýgengi og
tegundir meðfæddra hjartagalla á íslandi á árunum
1990-1999. Sambærileg rannsókn var gerð hérlendis á
árunum 1985-1989. Nýgengi meðfæddra hjartagalla í
þessari rannsókn var borið saman við þá fyrri og sam-
bærilegar erlendar rannsóknir.
Efniviður og aðferðir: Upplýsingar um sjúklinga
voru fengnar úr sjúkraskrám frá tveimur spítölum og
frá sérfræðingum í hjartasjúkdómum barna. Einnig
fengust upplýsingar frá hjartaómunardeild, úr krufn-
ingaskýrslum og dánarvottorðum. Kannaðar voru
tegundir hjartagalla, aldur við greiningu, hvaða ein-
kenni leiddu til greiningar, hvar þessi einkenni kontu
fyrst fram, meðferð og lífsgæði. Einnig voru skoðaðir
aðrir meðfæddir gallar, litningagallar og heilkenni.
Opin fósturæð (patent ductus arteriosus; PDA) hjá
fyrirburum, fósturop (patent foramen ovale; PFO)
EfJCLISH SUMMARY
Stephensen SS, Sigfússon G, Eiríksson H,
Sverrisson JT, Torfason B, Haraldsson Á, Helgason H
Congenital heart defects in lceland 1990- 1999
Læknablaöiö 2002; 88: 281-7
Objective: About 1 % of live born children have congenital
heart defects (CHD). Knowledge of the true incidence of
CHD is important because of the risk of bacterial endo-
carditis in patients with heart defects. This knowledge
could also serve as a basis for research on the etiology of
CHD. The aim of our study was to investigate the inci-
dence of CHD in children born in lceland during a ten year
period, from 1990 to 1999. A similar study on CHD was
carried out in lceland for children born 1985-1989. The
incidence of CHD in the present study was compared to
the previous and to similar studies from other countries.
Material and methods: Information about the patients
were obtained from medical records from two hospitals
covering the whole country, a private clinic of pediatric
cardiologists, echocardiography database, autopsy reports
and death certificates. Distribution of specific heart
defects, age at diagnosis, symptoms leading to the
diagnosis, referral pattern, treatment and quality of life was
investigated. Other congenital defects, chromosomal
defects and syndromes in the patients were studied.
Premature children with patent ductus arteriosus (PDA)
and children with patent foramen ovale (PFO) or atrial
septal defect (ASD) smaller than four millimeters were
excluded. We also studied the incidence of bicuspid aortic
valve (BAV). All diagnoses were confirmed with echocar-
diography and in some cases cardiac catheterization.
Results: Between 1990 and 1999 there were 44,013 live
births in lceland, 740 children were diagnosed with a CHD
or 1.7% of live born children. Yearly incidence varied from
1.04% of live births in 1991 to 2.34% in 1997. Male/female
ratio was 1/1. The distribution of the defects was following:
ventricular septal defect (VSD) 338 (45.7%), ASD 90
(12.2%), PDA 85 (11.5%), valvar pulmonal stenosis 48
(6.5%), BAV 38 (5.1 %), coarctation of the aorta 28 (3.8%),
tetrology of Fallot 22 (3.0%), transposition of the great
arteries 14 (1.9%), aortic stenosis 11 (1.5%), common
atrioventricular septal defect 10 (1.4%), mitral valve
regurgitation 9 (1.2%), sub-aortic stenosis 7 (0.9%) and
hypoplastic left heart syndrome 5 (0.7%). Other defects
were less frequent. About 47% of children with CHD were
diagnosed either before birth or before discharge from the
delivery institution. A cardiac murmur on examination was
the most common symptom leading to the diagnosis of
CHD, 631 patients (85.3%). Extracardiac anomalies were
seen in 89 patients (12.0%). Chromosomal abnormalities
were seen in 36 patients of whom 28 had Down’s
syndrome. The majority or 499 patients have no symptoms
but are still in follow-up, 20 patients have daily symptoms
and/or receive medical treatment and 27 patients have
died.
Conslusions: Annual incidence of patients diagnosed with
a CHD has increased during the study period. This is
observed in minor CHD but the incidence of major defects
does not alter. This yearly incidence (1.7%) is higher than
in the previous study, where it was 1.1%. The difference
can partly be explained by the BAVs, which were excluded
in the 1985-1989 study. But the number of CHD diagnosed
each year has increased, this being most pronounced in
the last three years. The annual incidence in our study is
also higher than in other population studies. The most
likely explanation for the higher incidence in our study is
the fact that access to pediatric cardiologists is very good
in lceland. Diagnosis, registration and follow-up is conduc-
ted by only a few cardiologists for the whole nation and
takes place at a single pediatric cardiology center. Of 740
patients diagnosed with CHD in the study period 713 are
alive. The outcome of the therapy is good and the majority
of the patients has no symptoms.
Key words: congenital heart defects, incidence.
Correspondance: Gunnlaugur Sigfússon,
gulli@landspitali.is
Læknablaðið 2002/88 281