The Portuguese Registry of Hypertrophic Cardiomyopathy : overall results
Abstract
Introduction: We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. Methods: A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. Results: A total of 29 centers participated and 1042 patients were recruited. Four centers recruited 49% of the patients, of whom 59% were male, and mean age at diagnosis was 53±16 years. Hypertrophic cardiomyopathy (HCM) was identified as familial in 33%. The major reason for diagnosis was symptoms (53%). HCM was obstructive in 35% of cases and genetic testing was performed in 51%. Invasive septal reduction therapy was offered to 8% (23% of obstructive patients). Most patients (84%) had an estimated five-year risk of sudden death of <6%. Thirteen percent received an implantable cardioverter-defibrillator. After a median follow-up of 3.3 years (interquartile range [P25-P75] 1.3-6.5 years), 31% were asymptomatic. All-cause mortality was 1.19%/year and cardiovascular mortality 0.65%/year. The incidence of heart failure-related death was 0.25%/year, of sudden cardiac death 0.22%/year and of stroke-related death 0.04%/year. Heart failure-related death plus heart transplantation occurred in 0.27%/year and sudden cardiac death plus equivalents occurred in 0.53%/year. Conclusions: Contemporary HCM in Portugal is characterized by relatively advanced age at diagnosis, and a high proportion of invasive treatment of obstructive forms. Long-term mortality is low; heart failure is the most common cause of death followed by sudden cardiac death. However, the burden of morbidity remains considerable, emphasizing the need for diseasespecific treatments that impact the natural history of the disease.
Full text
Re
Po
Ca diol.
2018;37(1):1---10
www. e po ca diol.o g
Re is a
Po uguesa
de
Ca diologia
Po uguese
Jou nal
o
Ca diology
ORIGINAL
ARTICLE
The
Po uguese
Regis y
o
Hype ophic
Ca diomyopa hy:
O e all
esul s
Nuno
Ca dima,∗,
Dulce
B i ob,
Luís
Rocha
Lopesc,d,
An ónio
F ei ase,
Ca la
A aújo ,
Ad iana
Belog,
Lino
Gonc¸al esh,
Jo ge
Mimosoi,
Iacopo
Oli o oj,m,
Pe y
Ellio k,m,
Hugo
Madei al,
on
behal
o
he
pa icipa ing
cen es1
aHospi al
da
Luz,
Lisboa,
Po ugal;
Faculdade
de
Ciências
Médicas,
Uni e sidade
No a
de
Lisboa,
Lisboa,
Po ugal
bHospi al
de
San a
Ma ia,
Cen o
Hospi ala
Lisboa
No e
(CHLN),
Cen o
Ca dio ascula
da
Uni e sidade
de
Lisboa
(CCUL),
Faculdade
de
Medicina,
Uni e sidade
de
Lisboa,
Lisboa,
Po ugal
cBa s
Hea
Cen e,
Ba s
Heal h
NHS
T us ;
Ins i u e
o
Ca dio ascula
Science,
Uni e si y
College
London,
Uni ed
Kingdom
dCen o
Ca dio ascula
da
Uni e sidade
de
Lisboa,
Lisboa,
Po ugal
eHospi al
Fe nando
da
Fonseca,
Amado a-Sin a,
Po ugal
Cen o
Hospi ala
de
T ás-os-Mon es
e
Al o
Dou o,
EPE,
Hospi al
de
São
Ped o,
Vila
Real,
Po ugal;
Epidemiology
Resea ch
Uni
(EPIUni ),
Ins i u o
de
Saúde
Pública,
Uni e sidade
o
Po o
(ISPUP),
Po o,
Po ugal
gSociedade
Po uguesa
de
Ca diologia,
Depa amen o
de
Bioes a ís ica,
Coimb a,
Po ugal
hCen o
Hospi ala
e
Uni e si á io
de
Coimb a-Hospi al
Ge al;
Faculdade
de
Medicina
da
Uni e sidade
de
Coimb a,
Coimb a,
Po ugal
iCen o
Hospi ala
do
Alga e,
Fa o,
Po ugal
jCa eggi
Uni e si y
Hospi al,
Flo ence,
I aly
kBa s
Hea
Cen e,
Ba s
Heal h
NHS
T us
/
Ins i u e
o
Ca dio ascula
Science,
Uni e si y
College
London,
Uni ed
Kingdom
lCen o
Ca dio ascula
da
Uni e sidade
de
Lisboa,
Lisboa,
Po ugal
mMembe
o
he
Scien ific
Commi ee
o
PRo-HCM
Recei ed
17
July
2017;
accep ed
8
Augus
2017
A ailable
online
19
Janua y
2018
KEYWORDS
Hype ophic
ca diomyopa hy;
Regis y;
Le
en icula
hype ophy;
Ou come
Abs ac
In oduc ion:
We
epo
he
esul s
o
he
Po uguese
Regis y
o
Hype ophic
Ca diomyopa hy,
an
ini ia i e
ha
eflec s
he
cu en
spec um
o
ca diology
cen e s
h oughou
he
e i o y
o
Po ugal.
Me hods:
A
di ec
in i a ion
o
pa icipa e
was
sen
o
ca diology
depa men s.
Baseline
and
ou come
da a
we e
collec ed.
Resul s:
A
o al
o
29
cen e s
pa icipa ed
and
1042
pa ien s
we e
ec ui ed.
Fou
cen e s
ec ui ed
49%
o
he
pa ien s,
o
whom
59%
we e
male,
and
mean
age
a
diagnosis
was
53±16
yea s.
Hype ophic
ca diomyopa hy
(HCM)
was
iden ified
as
amilial
in
33%.
The
majo
eason
o
diagnosis
was
symp oms
(53%).
HCM
was
obs uc i e
in
35%
o
cases
and
gene ic
es ing
∗Co esponding
au ho .
E-mail
add ess:
[email p o ec ed]
(N.
Ca dim).
1Lis
o
pa icipa ing
cen e s
and
p incipal
in es iga o s
a e
p o ided
in
Appendix
A.
h ps://doi.o g/10.1016/j. epc.2017.08.005
0870-2551/©
2017
Sociedade
Po uguesa
de
Ca diologia.
Published
by
Else ie
Espa˜
na,
S.L.U.
All
igh s
ese ed.
2174-2049
2
N.
Ca dim
e
al.
was
pe o med
in
51%.
In asi e
sep al
educ ion
he apy
was
o e ed
o
8%
(23%
o
obs uc-
i e
pa ien s).
Mos
pa ien s
(84%)
had
an
es ima ed
fi e-yea
isk
o
sudden
dea h
o
<6%.
Thi een
pe cen
ecei ed
an
implan able
ca dio e e -defib illa o .
A e
a
median
ollow-up
o
3.3
yea s
(in e qua ile
ange
[P25-P75]
1.3-6.5
yea s),
31%
we e
asymp oma ic.
All-cause
mo ali y
was
1.19%/yea
and
ca dio ascula
mo ali y
0.65%/yea .
The
incidence
o
hea
ailu e- ela ed
dea h
was
0.25%/yea ,
o
sudden
ca diac
dea h
0.22%/yea
and
o
s oke- ela ed
dea h
0.04%/yea .
Hea
ailu e- ela ed
dea h
plus
hea
ansplan a ion
occu ed
in
0.27%/yea
and
sudden
ca diac
dea h
plus
equi alen s
occu ed
in
0.53%/yea .
Conclusions:
Con empo a y
HCM
in
Po ugal
is
cha ac e ized
by
ela i ely
ad anced
age
a
diagnosis,
and
a
high
p opo ion
o
in asi e
ea men
o
obs uc i e
o ms.
Long- e m
mo ali y
is
low;
hea
ailu e
is
he
mos
common
cause
o
dea h
ollowed
by
sudden
ca diac
dea h.
Howe e ,
he
bu den
o
mo bidi y
emains
conside able,
emphasizing
he
need
o
disease-
specific
ea men s
ha
impac
he
na u al
his o y
o
he
disease.
©
2017
Sociedade
Po uguesa
de
Ca diologia.
Published
by
Else ie
Espa˜
na,
S.L.U.
All
igh s
ese ed.
PALAVRAS-CHAVE
Mioca diopa ia
hipe ófica;
Regis o;
Hipe ofia
en icula
esque da;
P ognós ico
Regis o
Po uguês
de
Mioca diopa ia
Hipe ófica:
esul ados
globais
Resumo
Obje i o:
Ap esen ac¸ão
dos
esul ados
do
Regis o
Po uguês
de
Mioca diopa ia
Hipe ófica.
Me odologia:
Con i e
di e o
aos
di e en es
cen os
de
ca diologia
de
Po ugal,
com
análise
de
dados
basais
e
de
seguimen o.
Resul ados:
Fo am
29
os
cen os
pa icipan es
e
1042
doen es
incluídos.
Qua o
cen os
incluí am
49%
dos
doen es,
59%
do
sexo
masculino,
idade
média
de
diagnós ico
53
±
16
anos.
A
doenc¸a
oi
conside ada
amilia
em
33%
e
a
p esenc¸a
de
sin omas
oi
a
p incipal
causa
de
diagnós ico
(53%).
A
mioca diopa ia
hipe ófica
oi
obs u i a
em
35%.
O
es udo
gené ico
oi
e e uado
em
51%.
Oi o
po
cen o
dos
doen es
fize am
e apêu ica
in asi a
de
educ¸ão
sep al
(23%
dos
doen es
com
obs uc¸ão).
A
maio ia
dos
doen es
(84%)
ap esen a a
um
isco
es imado
de
mo e
súbi a
aos
5
anos
<
6%.
Em
13%
oi
colocado
desfib ilhado
ca dio e so
implan á el.
Após
um
seguimen o
de
3,3
anos,
in e alo
in e qua il
(P25-P75)
1,3---6,5
anos,
31%
es a am
assin-
omá icos.
A
mo alidade
o al
oi
de
1,19%/ano
e
a
ca dio ascula
de
0,65%/ano.
A
incidência
de
mo e
po
insuficiência
ca diaca
oi
de
0,25%/ano,
a
de
mo e
súbi a
de
0,22%/ano
e
a
de
mo e
po
aciden e
ascula
ce ebal
de
0,04%/ano.
A
mo alidade
po
insuficiência
ca díaca
e
ansplan e
ca díaco
oi
de
0,27%/ano
e
a
de
mo e
súbi a
e
equi alen es
de
0,53%/ano.
Conclusões:
A
mioca diopa ia
hipe ófica
em
Po ugal
ap esen a
idade
de
diagnós ico
ele ada
e
é
equen e
o
a amen o
in asi o
de
o mas
obs u i as.
A
mo alidade
é
baixa,
a
insuficiência
ca díaca
é
a
p incipal
causa
de
mo e,
seguida
pela
mo e
súbi a.
A
doenc¸a
ap esen a
ele ada
mo bilidade,
ealc¸a
a
necessidade
do
desen ol imen o
de
a amen os
específicos
com
impac o
na
sua
his ó ia
na u al.
©
2017
Sociedade
Po uguesa
de
Ca diologia.
Publicado
po
Else ie
Espa˜
na,
S.L.U.
Todos
os
di ei os
ese ados.
Lis
o
abb e ia ions
AF
a ial
fib illa ion
ASA
alcohol
sep al
abla ion
CMR
ca diac
magne ic
esonance
CRF
case
epo
o m
HCM
hype ophic
ca diomyopa hy
HF
hea
ailu e
ICD
implan able
ca dio e e -defib illa o
IVS
in e en icula
sep um
LVH
le
en icula
hype ophy
PRo-HCM
Po uguese
Regis y
o
Hype ophic
Ca diomyopa hy
SCD
sudden
ca diac
dea h
TIA
ansien
ischemic
a ack
The
Po uguese
Regis y
o
Hype ophic
Ca diomyopa hy
3
In oduc ion
Hype ophic
ca diomyopa hy
(HCM)
ep esen s
an
impo -
an
heal h
bu den
as
a
cause
o
sudden
ca diac
dea h
(SCD),
hea
ailu e
(HF),
a ial
fib illa ion
(AF)
and
s oke.
HCM
sha es
many
disad an ages
o
a e
diseases,
includ-
ing
limi ed
ecogni ion,
lack
o
p ospec i e
s udies
assessing
ea men ,
and
li le
o
delayed
access
o
ad anced
ea -
men
op ions
wi hou
enjoying
hei
egula o y
benefi s.1 --- 4
Randomized
clinical
ials
a e
in equen
in
HCM
and
ec-
ommenda ions
a e
la gely
based
on
expe
consensus.1 --- 4
Addi ionally,
he
majo i y
o
s udies
s ill
o igina e
om
e -
ia y
e e al
cen e s,
and
li le
is
known
abou
he
clinical
p ofile
and
managemen
o
he
disease
a
a
na ionwide
le el.
The
eal
impac
o
gene ics
and
imaging
echniques
on
ea -
lie
and
wide
ecogni ion
o
HCM,
as
well
as
o
ad anced
ea men
op ions
on
ou comes,
is
also
unknown.
I
is
o
pa amoun
impo ance
o
cap u e
hese
changes
and
o
p o ide
answe s
o
hese
ques ions.1,2,5
Acco dingly,
he
impo ance
o
clinical
egis ies
o
HCM
is
inc easing,
since
hey
p o ide
he
bes
sou ce
o
eal-
wo ld
da a
in
specific
coun ies
and
geog aphical
egions.
Assuming
a
p e alence
o
1:5005 o
HCM
in
gene al
and
o
1:3200
o
‘clinical
HCM’6(pa ien s
who
come
o
medical
a en ion),
he
numbe
o
pa ien s
wi h
HCM
in
Po -
ugal
(popula ion
abou
10
million)
is
espec i ely
a ound
20
0007and
3000.6Howe e ,
ew
s udies
ha e
add essed
his
popula ion.8,9 Besides
i s
ele ance
o
na ional
ca diologis s,
he
Po uguese
HCM
popula ion
ep esen s
an
in e es ing
sample
because
o
he
coun y’s
ela i ely
small
size,
homo-
geneous
popula ion
and
high
pene a ion
o
heal h
ca e.
The
Po uguese
Regis y
o
Hype ophic
Ca diomyopa-
hy
(PRo-HCM)
was
ins i u ed
o
collec
in o ma ion
on
he
ac ual
si ua ion
o
HCM
in
Po ugal.
I
specifically
assessed
epidemiological,
sociodemog aphic
and
clinical
da a,
cu -
en
s anda ds
o
diagnosis,
ea men ,
ollow-up,
and
ou comes.
Ano he
aim
was
o
de elop
a
eliable
sou ce
o
in o ma ion
o
heal h
p o essionals,
pa ien s
and
amilies,
on
app op ia eness,
e ec i eness
and
quali y
o
ca e.
Me hods
Regis y
design
and
me hodology
The
PRo-HCM
egis y
was
concei ed
by
he
Wo king
G oup
on
Myoca dial
and
Pe ica dial
Diseases
o
he
Po uguese
Socie y
o
Ca diology,
di ec ed
by
an
execu i e
and
a
sci-
en ific
commi ee,
and
managed
in
he
Po uguese
Na ional
Cen e
o
Da a
Collec ion
in
Ca diology
(CNCDC).
This
s udy
was
o mula ed
and
conduc ed
in
compliance
wi h
he
p in-
ciples
o
he
decla a ion
o
Helsinki,
and
app o ed
by
he
Na ional
Cen e
o
Da a
P o ec ion.
I
was
an
obse a-
ional,
mul icen e ,
olun a y,
non-manda o y
s udy,
wi h
a
wo-yea
en ollmen
pe iod
(Ap il
2013-Ap il
2015),
e o-
spec i e
bu
including
a
p ospec i e
upda e.
A
di ec
in i a ion
was
made
o
ca diology
depa men s
na ionwide,
cen al
and
egional,
public
and
p i a e,
aca-
demic
and
non-academic,
co e ing
u al
and
u ban,
coas al
and
inland
a eas.
Addi ionally,
he
egis y
was
ad e ised
in
he
Po uguese
Jou nal
o
Ca diology,
mee ings
and
newsle e s.
I
he
in i a ion
was
accep ed,
he
p incipal
in es iga o
ecei ed
de ailed
ins uc ions,
a
cen e
iden-
ifica ion
numbe
and
a
unique
use name
and
passwo d
o
gain
access
o
he
elec onic
case
epo
o m
(CRF)
(h p://www.spc.p /Regis osMioca diopa ia/Public/Login.
aspx?Re u nU l=%2 Regis osMioca diopa ia%2 ).
The
CRF
con ained
se en
sec ions:
(1)
pa ien
iden ifica ion
and
demog aphic/epidemiological
da a;
(2)
pas
his o y
and
baseline
clinical
da a;
(3)
mo ali y
and
isk
s a ifica ion;
(4)
diagnos ic
es s;
(5)
gene ic
es ing,
amily
sc eening,
and
gene ic
counseling;
(6)
ea men ;
(7)
las
assess-
men
(clinical
cou se,
ollow-up,
and
ou comes).
In
he
diagnos ic
es s
sec ion
he
in es iga o s
we e
asked
o
en e
he
exams
pe o med
a
he
ime
o
fi s
assess-
men ,
including
elec oca diog am
(ECG),
echoca diog am,
ambula o y
ECG,
exe cise
es ,
exe cise
echoca diog am,
ca diac
magne ic
esonance
(CMR),
and
ca diac
compu ed
omog aphy.
Cen e s
we e
asked
o
include
all
pa ien s
wi h
a
diagno-
sis
o
HCM
ollowed
a
he
cen e
cu en ly
o
in
he
pas
(no
e ospec i e
ime
limi ),
including
hose
al eady
deceased
a
he
ime
o
en ollmen .
W i en
in o med
consen
was
ob ained
om
li ing
pa ien s
and
om
a
p oxy
o
deceased
pa ien s.
Inclusion
c i e ia
we e
age
>18
yea s
a
he
ime
o
en ollmen ,
and
unexplained
le
en icula
hype ophy
(LVH):
wall
hickness
≥15
mm
by
imaging
echniques
(in
fi s -
deg ee
ela i es10 ≥14
mm
in
he
in e io
in e en icula
sep um
(IVS)
o
la e al
wall
o
≥13
mm
in
he
an e io
IVS
o
in e io
wall).
Exclusion
c i e ia
we e
seconda y
LVH
(g ade
≥2
hype ension11),
mode a e
o
se e e
ao ic
s enosis,12 p e i-
ously
diagnosed
ca diac
o
sys emic
disease,
and
me abolic
o
mul i-o gan
synd ome
associa ed
wi h
LVH.
A e
he
inclusion
pe iod,
ex a
ime
was
p o ided
o
comple e
he
CRFs
and
o
clean
he
da abase.
The
final
da e
o
egis y
closu e
was
Decembe
31,
2015.
CRFs
we e
e iewed
o
confi m
consis ency
o
da a.
Whene e
nec-
essa y,
que ies
we e
sen
o
in es iga o s.
In
he
e en
o
epea ed
pa ien s
(same
ini ials,
gende
and
bi h
da e),
he
one
wi h
he
longe
ollow-up
ime
was
included.
Defini ions
Th oughou
he
s udy,
mos
da a
a e
ela i e
o
he
ime
o
fi s
isi .
When
clinically
ele an ,
da a
a
he
ime
o
diagnosis
o
HCM
a e
also
shown.
Follow-up
ime
was
defined
as
ime
om
ini ial
assess-
men
a
he
cen e
o
las
assessmen
o
dea h.
Sudden
ca diac
dea h
(SCD)
was
defined
as
unexpec ed
dea h
occu ing
wi hin
one
hou
o
symp om
onse
in
pa ien s
who
had
p e iously
expe ienced
a
ela i ely
s a-
ble
o
une en ul
clinical
cou se.
Resusci a ion
om
ca diac
a es
o
app op ia e
implan able
ca dio e e -defib illa o
(ICD)
he apies
o
p ima y
p e en ion
we e
conside ed
as
equi alen s
o
SCD.
HF- ela ed
dea h
was
defined
as
ha
occu ing
in
he
con ex
o
p og essi e
ca diac
decompensa ion,
wi h
decline
in
le
en icula
unc ion.13 Hea
ansplan a ion
was
conside ed
as
equi alen
o
HF- ela ed
dea h.
S oke- ela ed
dea hs
in
he
se ing
o
pa oxysmal,
pe -
sis en
o
pe manen
AF
we e
classified
as
AF-s oke
ela ed
4
N.
Ca dim
e
al.
Viana do
Cas elo
Vila Real
B aga
Po o
Viseu
A ei o Gua da
Cas elo
B anco
Coimb a
Lei ia
PORTUGAL
San a em
Lisbon
Po aleg e
E o a
Se ubal
Beja
Fa o
Madei a
Azo es
B aganca
45.0%
40.0%
35.0%
30.0%
25.0%
20.0%
15.0%
10.0%
5.0%
0.0%
No h Cen al Lisbon Sou h + Islands
Cen al; 7.7%
No h; 31.8%
Lisbon; 40.1%
PRo-HCM
Sou h + Islands; 20.4%
PRo-HCM: no. o pa ien s pe cen e
180
160
140
120
100
80
60
40
20
0C1 C2 C3 C4 C5 C6 C7 C8 C9 C10
C11 C12C13
C14
C15C16 C17C18
C19 C20C21 C22
C23 C24 C25 C26 C27 C28 C29
53 45
7710 3477639
38
21
1
36
104
70
55
144
99
79
14 14
2
27
167
19
Figu e
1
Pa icipa ing
cen e s
in
he
P o-HCM
egis y:
dis ibu ion
by
egions
and
by
cen e .
Le :
pa icipa ing
cen e s
(n=29);
op
igh :
dis ibu ion
o
he
1042
pa ien s
by
egions
o
Po ugal:
he
Lisbon
egion
included
he
highes
numbe
o
pa ien s
and
he
cen al
egion
o
Po ugal
he
lowes ;
bo om
igh :
no e
he
he e ogenei y
in
e ms
o
pa ien s
en olled
pe
cen e .
dea hs.
S oke- ela ed
dea hs
in
he
absence
o
documen ed
AF
we e
no
included
in
his
g oup.
Th omboembolic
e en s,
defined
as
s oke,
ansien
ischemic
a ack
(TIA)
o
sys emic
pe iphe al
embolism,
we e
eco ded.14
The
classifica ion
o
iden ified
gene ic
a ian s
was
assigned
o
he
in es iga o s,
as
pa hogenic/p obably
pa hogenic,
o
unknown
significance
o
benign/p obably
benign,
acco ding
o
cu en
knowledge
o
hei
pa hogenici y,15,16 as
p o ided
by
gene ic
labo a o ies
( hese
da a
we e
no
cen ally
e iewed
o
co ec ed
by
he
coo dina o s
o
he
egis y).
A
gene ic
s udy
was
defined
as
nega i e
i
no
pa hogenic/p obably
pa hogenic
mu a ion
was
de ec ed
and
as
in
p og ess
i
no
esul
was
p o ided
a
inclusion.
S a is ical
analysis
Con inuous
a iables
we e
exp essed
as
mean
and
s anda d
de ia ion
o
as
median
and
in e qua ile
ange
(IQR)
(P25-
P75).
Ca ego ical
a iables
we e
gi en
as
o al
numbe
and
pe cen ages.
Chi-squa e
o
Fishe
es s
we e
used
o
com-
pa isons
o
ca ego ical
a iables
and
S uden ’s
es s
o
con inuous
a iables.
Su i al
was
assessed
by
Cox
p opo -
ional
haza d
eg ession.
Su i al
cu es
we e
cons uc ed
acco ding
o
he
Kaplan-Meie
me hod,
and
compa isons
we e
pe o med
using
he
log- ank
es .
All
p- alues
we e
wo-sided
and
conside ed
significan
when
<0.05.
All
analy-
ses
we e
pe o med
using
SPSS
19.0®.
Resul s
O
he
62
ins i u ions
con ac ed,
37
accep ed,
and
he
final
numbe
o
pa icipa ing
cen e s
was
29
(Figu e
1).
The
o al
numbe
o
pa ien s
was
1042.
Figu es
we e
compa ed
wi h
o he
na ional
egis ies17,18 (Table
1).
Baseline
assessmen
Almos
hal
o
he
pa ien s
(n=514,
49%)
came
om
he
ou
majo
cen e s
wi h
specific
in e es
in
HCM
( he
o he
25
cen e s
en olled
528
pa ien s,
51%)
(Figu e
1).
The
Lisbon
egion
included
he
la ges
numbe ,
ollowed
by
he
No h
egion,
he
Sou h
and
Islands,
and
he
Cen al
egion.
O
he
29
cen e s,
only
h ee
included
mo e
han
100
pa ien s
and
eigh
mo e
han
50
pa ien s.
Twen y-one
cen e s
included
ewe
han
50
pa ien s
each,
13
cen e s
ewe
han
10
and
six
cen e s
ewe
han
fi e.
The
pa ien
coho
showed
a
sligh
p eponde ance
o
males.
Mean
age
a
diagnosis
was
53±16
yea s
and
mo e
han
one
qua e
we e
diagnosed
o e
he
age
o
65
yea s.
The
disease
was
classified
as
amilial
in
one
hi d.
A
fi s
consul a ion
mos
pa ien s
we e
symp oma ic19 (Table
2).
Diagnos ic
es s
The
ECG
was
abno mal
in
964
indi iduals
(93%).
AF
was
eco ded
in
117
(11%).
The
Po uguese
Regis y
o
Hype ophic
Ca diomyopa hy
5
Table
1
Compa ison
be ween
popula ions
o
na ional
egis ies
o
hype ophic
ca diomyopa hy.
Po uguese
egis y
(PRo-HCM)
I alian
egis y17 F ench
egis y18
Regis y
pe iod
2013-2015
2000-2002
2005-2015
Coun y
popula ion
10
million
50
million
66
million
Pa ien s
in
egis y
1042
1677
1401
Es ima ed
p e alence
o
HCM
based
on
he
CARDIA
s udy:
1:5005
HCM
pa ien s
20
000
100
000
132
000
Pa ien s
included
in
egis y
5%
2%
1%
Es ima ed
p e alence
o
‘clinical’
HCM:
1:
32006
Pa ien s
wi h
‘clinical’
HCM
3125
16
000
18
750
Pa ien s
included
in
egis y 33%
10%
7%
HCM:
hype ophic
ca diomyopa hy.
Table
2
Summa y
o
baseline
cha ac e is ics
and
diagnos-
ic
es s.
n
%
HCM
pa ien s
1042
Male/ emale
613/429
59/41
Age
a
diagnosis
53±16
(9-88)
Diagnosis
>50
yea s
605
58
Diagnosis
>65
yea s
281
27
Familial/spo adic
347/559
33/54
Non-obs uc i e
HCM
613
59
Obs uc i e
HCM
365
35
Reason
o
diagnosis
Symp oms
551
53
Inciden al
319
31
Family
sc eening 129
12
Symp oms
a
fi s
consul a ion
Asymp oma ic
311
30
Symp oma ic
715
69
Dyspnea
328
32
Angina
241
23
Palpi a ions
189
18
Syncope
95
9
NYHA
I/II/III/IV
146/792/94/10
14/76/9/1
Imaging
me hod
o
diagnosis
Echoca diog aphy
932
89
CMR/CCT
110
11
Hol e
867
83
Exe cise
es
437
42
Exe cise
echoca diog aphy
175
17
CMR
475
46
CA
122
12
EMB
12
1
Gene ic
es
528
51
CA:
ca diac
angiog aphy;
CCT:
ca diac
compu ed
omog aphy;
CMR:
ca diac
magne ic
esonance;
EMB:
endomyoca dial
biopsy;
HCM:
hype ophic
ca diomyopa hy;
NYHA:
New
Yo k
Hea
Asso-
cia ion
unc ional
class.
Echoca diog aphic
assessmen
a
en ollmen
showed
ha
HCM
was
non-obs uc i e
(ins an aneous
peak
Dopple
in a-
en icula
p essu e
g adien
<30
mmHg)
in
613
(59%
o
pa ien s)
and
obs uc i e
in
365
(35%)
(Table
2).
O
hese,
323
(88%)
had
obs uc ion
a
es
and
42
(12%)
had
exe cise-
induced
obs uc ion
only,
du ing
exe cise
echoca diog aphy.
Obs uc ion
was
a
he
le
en icula
ou flow
ac
in
89%.
An
apical
aneu ysm
was
p esen
in
23
pa ien s
(2%).
On
ambula o y
Hol e
ECG
moni o ing,
AF
was
p esen
in
118
pa ien s
(11%).
An
exe cise
es
was
ca ied
ou
in
less
han
hal
o
he
popula ion
and
exe cise
echoca diog aphy
in
app oxima ely
one
fi h
(Table
2).
CMR
was
pe o med
in
almos
hal
o
he
coho .
I s
inc e-
men al
alue
o e
echoca diog aphy
was
he
assessmen
o
fib osis
(59%),
diagnosis
in
alse-nega i e
echoca diog ams
(6%)
and
de ec ion
o
massi e
LVH
(4%).
Risk
s a ifica ion
o
sudden
ca diac
dea h
a
baseline
(a
he
ime
o
he
fi s
isi )
Based
on
he
Ame ican
Hea
Associa ion
model
o
SCD2,20
(Supplemen a y
Table
1),
hal
o
he
pa ien s
had
no
isk
ac-
o s,
one
hi d
had
one
isk
ac o
and
15%
mo e
han
one
isk
ac o .
Ou
da a
also
showed
ha
acco ding
o
he
Eu o-
pean
Socie y
o
Ca diology
SCD
isk
sco e,1,21 he
majo i y
o
pa ien s
had
a
fi e-yea
isk
lowe
han
4%.
Gene ic
es ing
In
o al,
51%
o
he
pa ien s
had
unde gone
gene ic
es ing
and
in
40%
o
hese
a
pa hogenic/p obably
pa hogenic
mu a-
ion
was
ound
(Table
3).
In
his
g oup,
when
he
causa i e
gene
mu a ion
was
epo ed,
he
wo
mos
equen
genes
we e
MYBPC3
and
MYH7.
T ea men
Mos
pa ien s
(n=909;
87%)
ecei ed
medical
ea men
(Table
4).
Sep al
educ ion
he apy
was
pe o med
in
8%
o
he
coho ,
23%
o
he
obs uc i e
g oup.
Ca diac
su ge y
was
pe o med
2.6
imes
mo e
equen ly
han
ASA.
Su ge y
was
pe o med
in
11
cen e s
(o
hese,
only
wo
pe o med
mo e
han
10
su ge ies).
ASA
was
pe o med
in
ou
cen e s
(only
one
eached
10
p ocedu es).
An
ICD
was
implan ed
in
13%
o
he
popula ion,
mainly
o
p ima y
p e en ion.
A
pacemake
was
implan ed
in
9%,
usually
o
conduc ion
diso de s.
6
N.
Ca dim
e
al.
Table
3
Resul s
o
gene ic
es ing.15,16
n
%
HCM
pa ien s
es ed
528
51
Posi i e
210
40
VUS
40
8
Pa hogenic/p obably
pa hogenic
mu a iona210
MYBPC3
99
49
MYH7
56
28
TNNT2
25
12
TNNI3
10
5
TPM1
8
4
CRSP3
8
4
MYL3
2
1
MYL2
1
0.5
CRSP3:
muscle
LIM
p o ein;
HCM:
hype ophic
ca diomyopa-
hy;
MYBPC3:
ca diac
myosin-binding
p o ein
C;
MYH7:
myosin
hea y
chain;
MYL2:
egula o y
myosin
ligh
chain;
MYL3:
essen-
ial
myosin
ligh
chain;
TNNI3:
ca diac
oponin
I;
TNNT2:
ca diac
oponin
T;
TPM1:
opomyosin;
VUS:
a ian s
o
unknown
signi -
icance.
aRaw
da a
de i ed
om
CRF
da a,
inse ed
by
he
in es iga-
o s
as
epo ed
by
he
gene ic
labo a o y
and
no
confi med
by
he
coo dina o s
o
he
egis y,
including
he
a ibu ed
classi-
fica ion
o
‘pa hogenic/p obably
pa hogenic
mu a ion’.
Table
4
T ea men
in
he
PRo-HCM
egis y.
n
%
Be a-blocke s
768
74
CCBs
262
25
Disopy amide
19
2
Amioda one
151
15
An icoagulan s
276
27
VKAs
208
75
NOACs
60
22
ACEIs
226
22
ARBs
178
17
Diu e ics
252
24
Ni a es
24
2
ASA
23
2
Su ge y
61
6
ICD
140
13
P ima y
p e en ion
123
88
Seconda y
p e en ion
15
11
Pacemake
92
9
B adya hy hmia
64
70
G adien
educ ion 19
21
ACEIs:
angio ensin-con e ing
enzyme
inhibi o s;
ARBs:
angio ensin
ecep o
blocke s;
ASA:
alcohol
sep al
abla ion;
CCBs:
calcium
channel
blocke s;
ICD:
implan able
ca dio e e
defib illa o :
NOACs:
new
o al
an icoagulan s;
VKAs:
i amin
K
an agonis s.
Follow-up,
mo bidi y
and
mo ali y
Mean
ollow-up
was
5.3±6.1
yea s,
median
3.3
yea s
(IQR
[P25-P75]
1.3-6.5
yea s).
A
las
assessmen ,
mos
pa ien s
we e
symp oma ic
(Figu e
2),
usually
wi h
mild
o
mode a e
symp oms.
A
small
numbe
(n=42,
4%)
de eloped
sys olic
dys unc ion.
All-cause
mo ali y
was
6.2%
(Table
5).
Ca dio ascula
mo ali y
was
3.4%,
mos
equen ly
due
o
HF,
ollowed
by
SCD
and
by
s oke- ela ed
dea h.
In
uni a ia e
analysis,
16
o
he
p edefined
a iables
we e
significan ly
ela ed
o
mo ali y.
Mul i a ia e
analysis
showed
ou
majo
isk
indica o s
o
ca dio ascula
mo -
ali y:
la e
diagnosis
(>60
yea s),
amily
his o y
o
SCD,
p og essi e
sys olic
dys unc ion
and
obs uc i e
HCM
(Sup-
plemen a y
Table
2).
O
he
12
pa ien s
wi h
SCD,
se en
we e
be ween
40
and
65
yea s
old,
h ee
we e
olde
han
65,
and
only
wo
we e
aged
unde
40
yea s.
In
a
numbe
o
pa ien s
SCD
was
abo ed
by
app op ia e
ICD
shocks
in
he
se ing
o
p ima y
p e en ion
o
documen ed
success ul
in-
and/o
ou -o -hospi al
esusci a ion.
The e o e,
ac ual
plus
abo ed
SCD
occu ed
in
29
pa ien s.
The
incidence
o
all-cause
and
ca dio ascula
mo ali y
was
1.19%/yea
and
0.65%/yea ,
espec i ely;
he
incidence
o
HF- ela ed
dea h
was
highe
han
ha
o
SCD,
and
he
la -
e
was
highe
han
ha
o
s oke.
Howe e ,
he
incidence
o
SCD
dea h
plus
equi alen s
was
highe
han
he
incidence
o
HF
dea h,
wi h
o
wi hou
equi alen s
(Table
5
and
Figu e
3).
Th omboembolic
e en s
occu ed
in
65
pa ien s
(6%)
(s oke
n=52,
TIA
n=11,
pe iphe al
embolism
n=2).
O
hese,
hal
had
documen ed
AF.
Compa ed
wi h
low- olume
cen e s
(<15
pa ien s
included,
n=16),
high- olume
(>100
pa ien s,
n=3)
cen e s
had
younge
pa ien s
and
mo e
amilial
HCM
and
pe o med
mo e
gene ic
es ing,
amily
sc eening
and
exclusion
o
phe-
nocopies
(Supplemen a y
Table
3).
Addi ionally,
despi e
he
highe
numbe
o
diagnos ic
es s
and
o
d ug
p esc ip ions
o
high- olume
cen e s,
no
majo
di e ences
in
ou comes
we e
ound.
Discussion
The
PRo-HCM
egis y
p o ides
a
de ailed
con empo a y
assessmen
o
he
clinical
p ofile,
managemen
s a egies
and
ou comes
o
HCM
in
Po ugal.
While
mos
da a
a e
consis en
wi h
he
exis ing
li e a u e,17,18,22 he
p esen
findings
show
elemen s
o
no el y
and
some
di e ences
om
he
guidelines.1,2 Ou
esul s
a e
impo an
a
bo h
na ional
and
in e na ional
le el,
as
se e al
coun ies,
wo ld-
wide,
may
ace
simila
condi ions
in
he
managemen
o
he
disease.
Epidemiological
and
sociodemog aphic
da a
The
o al
numbe
o
pa ien s
included
ep esen s
abou
5%
o
he
es ima ed
p e alence
in
Po ugal,5,7 bu
up
o
one
hi d
o
he
Po uguese
popula ion
wi h
‘clinical’
HCM.6
Acco dingly,
his
is,
o
ou
knowledge,
he
mos
comp e-
hensi e
na ional
HCM
egis y
published.17,18,22 This
na ional
e o
p o ides
c edibili y
o
ou
da a
as
ep esen a i e
o
he
eal
Po uguese
scena io.
The
dis ibu ion
o
pa ien s
be ween
e e al
and
communi y-based
cen e s
( ou
cen-
e s
included
hal
o
he
pa ien s
and
25
cen e s
he
o he
hal )
shows
ha
a
significan
numbe
o
pa ien s
a e
ol-
lowed
in
non- e e al
cen e s.
O
no e,
howe e ,
was
he
The
Po uguese
Regis y
o
Hype ophic
Ca diomyopa hy
7
Popula ion
600
550
500
450
400
350
300
250
200
150
100
50
0Asymp oma ic
Symp oma ic
327
578
600
500
400
300
200
100
0
Mild/Mode a e Se e e Unde e mined
15
41
522
Symp oma ic pa ien s
327
578
Figu e
2
Follow-up
da a:
symp oms
a
las
assessmen .
A
he
las
assessmen
mos
pa ien s
we e
symp oma ic
(le ),
and
he
majo i y
had
mild
o
mode a e
symp oms
( igh ).
Table
5
Mo ali y
in
he
PRo-HCM
egis y.
n
Mo ali y
a e
To al
mo ali y
65
1.19%/yea
CV
mo ali y
36
0.65%/yea
HF- ela ed
dea h
14
0.25%/yea
SCD
12
0.22%/yea
S oke- ela ed
dea h
2
0.04%/yea
O he
8
0.15%/yea
SCD
equi alen s
17
0.31%/yea
SCD
dea h
plus
equi alen s 29
0.53%/yea
HF
equi alen s
1
0.02%/yea
HF
dea h
plus
equi alen s 15
0.27%/yea
CV:
ca dio ascula ;
HF:
hea
ailu e;
SCD:
sudden
ca diac
dea h.
low
p opo ion
o
epo ed
amilial
HCM,
p obably
eflec ing
a
low
a e
o
sys ema ic
amily
sc eening
p og ams
and/o
a
e e al
cen e
bias
in
ano he
egis y.22
Baseline
assessmen
O e
a
decade
since
he
publica ion
o
ano he
na ional
egis y,17 he
clinical
spec um
o
HCM
appea s
e y
sim-
ila ,
sugges ing
ha
i s
clinical
p ofile
is
no
unde going
majo
changes
in
he
Wes e n
wo ld.
The
majo
di e ence
is
he
olde
age
a
diagnosis,
wi h
mo e
han
one
ou h
o
pa ien s
diagnosed
o e
he
age
o
65
yea s.
This
finding
may
eflec
delayed
disease
pene ance,
lack
o
sys ema ic
amily
sc eening,
and
---
po en ially
---
an
inc eased
diagnos-
ic
yield
in
olde
pa ien s.1,2 By
con as ,
he
associa ion
ound
in
ou
coho
o
a
low
a e
o
amilial
HCM,
la e
age
o
p esen a ion,
and
low
isk
p ofile,
may
mo e
closely
mi -
o
he
eal-wo ld
disease
scena io,
eflec ing
he
inclusion
o
hese
unselec ed
lowe - isk
HCM
pa ien s
in
he
coho .
Recen
epo s
ha e
in
ac
iden ified
a
lowe - isk
coho
o
HCM
pa ien s,
wi h
la e
onse
and
lowe
a e
o
amilial
disease,23,24 which
may
explain
ou
findings.
The
p opo ion
o
obs uc i e
o ms
in
ou
coho ,
abou
one
hi d,
basically
eflec s
pa ien s
wi h
obs uc ion
a
es ,
and
is
consis en
wi h
he
exis ing
li e a u e
o
es ing
obs uc ion.1,2 Acco dingly,
due
o
he
low
a e
o
exe cise
echoca diog aphy
pe o med,25 many
pa ien s
wi h
labile
obs uc ion
we e
p obably
no
de ec ed
and
we e
classified
as
non-obs uc i e,
which
a
fi s
sigh
sugges s
a
de ia ion
om
he
guidelines.
Howe e ,
as
he
ecommenda ions1,2
o
he
use
o
exe cise
echoca diog aphy
in
non-obs uc i e
HCM
a
es
a e
ela i ely
ecen ,
some
o
hese
pa ien s,
assessed
ea lie ,
ha e
no
unde gone
exe cise
echoca -
diog aphy
and
we e
diagnosed
as
non-obs uc i e
in
his
obse a ional
s udy.
Diagnos ic
es s
and
sudden
ca diac
dea h
isk
s a ifica ion
a
baseline
Ou
da a
show
a
ela i ely
limi ed
pene a ion
o
CMR,
despi e
he
e idence
o
i s
inc emen al
alue.1 --- 4 These
esul s
eflec
i s
high
cos s,
limi ed
a ailabili y,
and
ela i ely
ecen
in oduc ion
in
clinical
p ac ice.1 --- 4
By
con as ,
despi e
he
ac o s
ha
limi
he
dissemina-
ion
o
gene ic
es ing1,2 (p ice,
lack
o
co-paymen ,
low
a ailabili y),
hal
o
he
pa ien s
unde wen
gene ic
s udy,
which
in
many
cases
is
al eady
pa
o
ou ine
p ac ice.26
The
p opo ion
o
es s
in
which
a
a ian
was
ound15,16,27,28
and
he
ela i e
p e alence
o
he
disease-causing
genes
is
mos ly
simila
o
wha
has
been
desc ibed.1,2,15,16,27,28 How-
e e ,
acco ding
o
he
esul s
p o ided
by
he
in es iga o s,
an
unexpec edly
high
p e alence
o
pa hogenic/p obably
pa hogenic
mu a ions15,16,27,28 was
ound
in
he
TPM1
and
CSRP3
genes.17 These
esul s
should
be
in e p e ed
wi h
cau ion,
because
hey
a e
de i ed
om
CRF
aw
da a
ha
we e
no
cen ally
e iewed
o
co ec ed
by
he
PRo-HCM
coo dina o s.
Bo h
o
he
con empo a y
models
o
SCD
isk1,2,20,21 show
ha
ou
coho
was,
a
baseline,
a
low- isk
popula ion
o
SCD,
which
pa ially
explains
he
low
a e
o
SCD
and
o
ICD
implan a ions.
T ea men
In asi e
sep al
educ ion
was
o e ed
o
almos
one
ou h
o
obs uc i e
pa ien s,
including
hose
who
we e
mildly
8
N.
Ca dim
e
al.
Cause Cause
CV CV
HF HF
SCD SCD
S oke S oke
Haza d unc ion
Haza d unc ion
0.20 0.20
0.15 0.15
0.10 0.10
0.05 0.05
0.00
0.00
0
05
510 10
15 15
20 20
Follow-up (yea s) Follow-up (yea s)
Cumula i e haza d
Cumula i e haza d
HF+Equi
SCD+Equi
Figu e
3
Kaplan-Meie
es ima es
o
he
cumula i e
haza d
unc ion
o
mo ali y
du ing
ollow-up.
Le :
cumula i e
haza d
unc ion
o
mo ali y;
igh :
cumula i e
haza d
unc ion
o
mo ali y,
including
sudden
ca diac
dea h
and
hea
ailu e
equi alen s.
See
ex
o
explana ion.
CV:
ca dio ascula
mo ali y;
HF:
hea
ailu e
mo ali y;
HF+Equi :
hea
ailu e
mo ali y+
equi alen s;
S oke:
s oke
ela ed
mo ali y;
SCD:
sudden
ca diac
dea h
mo ali y;
SCD+Equi :
sudden
ca diac
dea h
mo ali y
+
equi alen s.
symp oma ic.
Al hough
i
canno
be
excluded
ha
his
a e
is
biased
by
he
low
numbe
o
pa ien s
de ec ed
wi h
labile
obs uc ion,
i
p obably
also
esul s
om
knowledge
o
he
ad e se
long- e m
e ec s
o
obs uc ion,
as
well
as
om
he
sa e y
o
in asi e
p ocedu es,
which
may
impac
u u e
HCM
guidelines.
O
no e,
he
numbe
o
su gical
myec omies
was
much
highe
han
he
numbe
o
ASA
p ocedu es,
which
is
pa ially
explained
by
he
la e
in oduc ion
o
he
la e
in
Po ugal
(2009).29 The
ac
ha
he
wo
p ocedu es
we e
pe o med
in
di e en
cen e s
dese es
eflec ion,
aking
in o
accoun
he
known
e ec
o
expe ise
on
esul s.1,2
Finally,
ewe
han
15%
o
pa ien s
ecei ed
an
ICD
du ing
ollow-up,
eflec ing
he
low
isk
p ofile
o
ou
non-selec ed
popula ion.
Follow-up,
mo bidi y
and
mo ali y
O e all,
ou
da a
sugges
ha
in
Po ugal,
in
he
e a
o
be e
diagnos ic
and
he apeu ic
echniques,
HCM
has
low
mo ali y
bu
high
mo bidi y.
Addi ionally,
despi e
g ea e
use
o
diagnos ic
es s
and
di e ences
in
medical
ea men ,
ou comes
o
high- olume
cen e s
a e
simila
o
hose
o
low- olume
cen e s,
calling
in o
ques ion
he
alue
o
HCM
cen e s
and
o
he
‘hub
and
spoke’
model.7
Ou come
da a
show
ha
he
SCD
a e
in
HCM
pa ien s
in
Po ugal
is
e y
low.
E en
hough
his
finding
may
be
pa ially
explained
by
li es
sa ed
by
success ul
esusci a ion
and
ICD
implan a ion,
he
incidence
o
SCD
is
s ill
low
a e
including
hese
SCD
equi alen s
in
he
SCD
a e.
As
a
consequence
o
he
e ficacy
o
hese
p e en i e
measu es,
HF
has
become
he
leading
cause
o
dea h
in
HCM
pa ien s
in
Po ugal.
Ou
figu es
a e
in
o e all
ag eemen
wi h
hose
om
o he
g oups,30 showing
ha
o e all
mo ali y
in
ea ed
HCM
in
Po ugal
is
1.19%,
simila
o
ha
o
he
gene al
Po uguese
popula ion
(a ound
1.1%
yea ).31 Impo an ly,
a
ollow-up
mos
pa ien s
we e
symp oma ic,
confi ming
ha
disease
mo bidi y
ep esen s
a
significan
bu den
o
pa ien s,
heal h
ca e
se ices
and
p o ide s.
Acco dingly,
he
‘‘con empo a y
ea able
disease’’30 has
became,
a
leas
in
Po ugal,
a
‘‘con empo a y
ch onic
ea able
dis-
ease’’
in
which,
side
by
side
wi h
ICDs,
he
ole
o
ch onic
medical
ea men
is
inc easing.
Limi a ions
Despi e
hei
inhe en
limi a ions,
egis ies
p o ide
ealis-
ic
geog aphical
da a
on
disease
cou se
and
managemen .
The
inclusion
o
mos ly
symp oma ic
pa ien s
wi h
ad anced,
es ablished
disease
(mainly
included
by
HCM
e e al
cen e s)
is
a
limi a ion
o
his
egis y,
p o iding
a
biased
iew
o
he
disease
(selec ion
bias,
a
common
lim-
i a ion
o
many
HCM
s udies).
Addi ionally,
disease- ela ed
mo ali y
is
unde es i-
ma ed,
as
pa ien s
who
died
be o e
diagnosis
we e
no
included.
This
su i al
bias
pa ially
explains
he
low
a e
o
e en s,
especially
he
low
a e
o
SCD.
Child en
we e
excluded
because
o
impo an
clinical
di e ences.1,2
The
Po uguese
Regis y
o
Hype ophic
Ca diomyopa hy
9
Fu u e
di ec ions
The
iden ifica ion,
a
a
na ional
le el,
o
disc epancies
be ween
ou
da a
and
he
guidelines
is
an
impo an
finding,
wa an ing
a
na ional
e o
o
co ec
hem
( o
ins ance
o
include
exe cise
echoca diog aphy
as
a
s anda d
ini ial
assessmen
o
non-obs uc i e
HCM
a
es ,
o
be e
de ec
labile
obs uc ion).
Because
o
he
la ge
olume
o
da a,
we
we e
unable
o
co e
some
impo an
opics
in
dep h.
Acco d-
ingly,
u he
wo k
will
be
di ec ed
a
compa isons
be ween
subg oups,
add essing
amily
sc eening,
gene ic
es ing
(including
ounde
e ec s,
di e ences
in
pheno-
ype
be ween
genes,
and
analysis
o
specific
mu a ions
conside ed
as
pa hogenic/p obably
pa hogenic
by
he
in es iga o s),
awa eness
o
phenocopies
( o
ins ance
Fab y
disease),
and
de ailed
assessmen
o
clinical
HCM
p ofiles.
Conclusions
The
PRo-HCM
egis y
p o ides
comp ehensi e
da a
on
he
managemen
o
HCM
in
Po ugal
in
he
e a
o
gene ics,
CMR,
ICDs
and
ASA,
and
indica es
he
need
o
be e
access
o
esou ces
and
some
de ia ions
om
guidelines.
Con empo a y
HCM
in
Po ugal
is
cha ac e ized
by
el-
a i ely
ad anced
age
a
diagnosis,
and
a
high
p opo ion
o
in asi e
ea men
o
obs uc i e
o ms
a
es .
Long-
e m
mo ali y
is
low,
and
HF
is
he
mos
common
cause
o
dea h
ollowed
by
SCD
(excluding
equi alen s).
Howe e ,
mo bidi y
emains
conside able,
emphasizing
he
need
o
disease-specific
ea men s
ha
impac
he
na u al
his o y
o
he
disease.
Funding
(un es ic ed
g an s
o
he
Po uguese
Socie y
o
Ca diology
o
all
myoca dial
and
pe ica dial
disease
egis ies)
Gold:
Jaba
Reco da i,
Me ck
Se ono,
Sanofi-Genzyme,
Shi e;
Sil e :
Medin a ,
Se ie
IOi
was
suppo ed
by
he
I alian
Minis y
o
Heal h
(‘‘LVH
in
ao ic
al e
disease
and
HCM:
gene ic
basis,
biophysical
co ela es
and
i al
he apy
models’’
(RF-2013-02356787),
and
NET-2011-02347173
(‘‘Mechanisms
and
ea men
o
co ona y
mic o ascula
dys unc ion
in
pa ien s
wi h
gene ic
o
seconda y
LVH’’);
and
by
Tele hon
I aly
(GGP13162).
Conflic s
o
in e es
The
au ho s
ha e
no
conflic s
o
in e es
o
decla e.
Acknowledgmen s
We
a e
g a e ul
o
CNCDC
s a ,
especially
D .
Sand a
Co ke ,
and
o
In o ucano
s a .
Appendix
A.
Pa icipa ing
cen e s
and
p incipal
in es iga o s
Cen o
Hospi ala
de
Lei ia:
Joana
Co eia;
Cen o
Hospi a-
la
de
Lisboa
No e
-
Hospi al
de
San a
Ma ia:
Dulce
B i o;
Cen o
Hospi ala
de
Lisboa
Ociden al,
Se ic¸o
de
Ca diolo-
gia:
João
Abecasis;
Cen o
Hospi ala
de
Lisboa
Ociden al
-
Hospi al
São
F ancisco
Xa ie
-
Se ic¸o
de
Medicina
III:
Cândida
Fonseca;
Cen o
Hospi ala
de
T ás
os
Mon es
e
Al o
Dou o
-
Hospi al
São
Ped o:
Ca la
Alexand a
R.
A aújo;
Cen o
Hospi ala
de
Vila
No a
de
Gaia/Espinho:
Conceic¸ão
Fonseca;
Cen o
Hospi ala
do
Alga e
-
Hospi al
de
Fa o:
Nuno
Ma ques;
Cen o
Hospi ala
do
Al o
A e
-
Hospi al
da
Senho a
da
Oli ei a:
Olga
Aze edo;
Cen o
Hospi ala
do
Baixo
Vouga
-
Hospi al
In an e
D.
Ped o:
José
An ónio
Nob e
dos
San os;
Cen o
Hospi ala
do
Oes e
No e
-
Cen o
Hos-
pi ala
das
Caldas
da
Rainha:
Ana
Filipa
Pe ei a
Rod igues;
Cen o
Hospi ala
do
Po o
-
Hospi al
de
San o
An ónio:
Pa í-
cia
Fe nandes
Rod igues;
Cen o
Hospi ala
do
Tâmega
e
Sousa
-
Unidade
Pad e
Amé ico:
Ma ia
Conceic¸ão
Quei ós;
Cen o
Hospi ala
e
Uni e si á io
de
Coimb a
-
Ca diologia
B
-
Hospi al
Ge al:
Joana
Delgado
Sil a;
Cen o
Hospi ala
Tondela
Viseu
-
Hospi al
de
São
Teo ónio:
Ca los
Emanuel
Co eia;
CUF
In an e
San o
Hospi al:
Ped o
Ma os;
Hospi al
Bea iz
Ângelo:
Luís
Sa gen o;
Hospi al
da
Luz
Lisboa:
Nuno
Ca dim;
Hospi al
das
Fo c¸as
A madas:
Sa a
Fe ei a;
Hospi-
al
de
B aga:
Nuno
Salomé:
Hospi al
de
San a
Ma ia
Maio
de
Ba celos
-
Se ic¸o
Ca diologia:
Alexand a
Sousa;
Hospi al
de
San o
Espí i o
de
Ang a
do
He oísmo:
Ru e
Cou o;
Hospi al
de
São
João:
Elisabe e
Ma ins;
Hospi al
do
Espí i o
San o:
Agos inho
Caei o;
Hospi al
Ga cia
de
O a:
Luís
Rocha
Lopes;
Hospi al
P o .
Dou o
Fe nando
Fonseca:
F ancisco
Madei a;
Hospi al
SAMS:
Be a
Ca ola;
HPP
Hospi al
de
Cascais
-
Hos-
pi al
D .
José
de
Almeida:
Gonc¸alo
P oenc¸a;
Unidade
Local
de
Saúde
da
Gua da
-
Hospi al
Sousa
Ma ins:
Ma ia
C is ina
Gamboa.
Appendix
B.
Supplemen a y
ma e ial
Supplemen a y
ma e ial
associa ed
wi h
his
a icle
can
be
ound
in
he
online
e sion
a
doi:10.1016/j. epc.
2017.08.005.
Re e ences
1.
Ellio
PM,
Anas asakis
A,
Bo ge
MA,
e
al.
2014
ESC
Guidelines
on
diagnosis
and
managemen
o
hype ophic
ca diomyopa hy.
The
Task
Fo ce
o
he
Diagnosis
and
Managemen
o
Hype -
ophic
Ca diomyopa hy
o
he
Eu opean
Socie y
o
Ca diology.
Eu
Hea
J.
2014;35:2733---79.
2.
Ge sh
BJ,
Ma on
BJ,
Bonow
RO,
e
al.
2011
ACCF/AHA
Guideline
o
he
Diagnosis
and
T ea men
o
Hype ophic
Ca diomyopa-
hy.
J
Am
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