CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 5, June 2013
AFRICA
e5
years of age and deteriorated after the birth of her second child
10 years later. This sister soon suffered a stroke and died one year
after the second childbirth.
Active family screening revealed symptomatic DCM in
her 39-year-old brother, without CAD; and asymptomatic
left ventricular (LV) systolic dysfunction in her 22-year-old
sister. Screening one elder sister showed Wolf-Parkinson-White
syndrome.
These two cases of PPCM have at least one family member
with DCM, and therefore meet the definition of familial
cardiomyopathy.
2
The presentation in both cases is compatible
with autosomal dominant inheritance.
PPCM and idiopathic DCM
The distinction of PPCM from idiopathic DCM may be difficult
because both conditions are characterised by LV dysfunction
with no apparent cause. Indeed, some investigators have proposed
that PPCM may simply be idiopathic DCM manifesting in
late pregnancy, this being a time when the haemodynamic
changes of pregnancy could overwhelm the heart.
3
Along this
hypothesis, increased preload leads to LV dilatation and cardiac
insufficiency, a theory partly supported by earlier studies in
which a number of cases presented in the last month antepartum
or immediately postpartum.
However, such theory is not supported by studies showing
that PPCM with no gestational hypertension present on average
at two months postpartum,
4-6
having developed symptoms within
two months postpartum.
6,7
By this time, these haemodynamic
changes of pregnancy would have ceased.
4
However, cohorts
with predominantly postpartum-onset PPCM display prognoses
similar to those of idiopathic DCM, with far slower recovery
than in PPCM phenotypes with predominantly gestational
hypertension.
1,7
Even though most women with asymptomatic or mildly
symptomatic idiopathic DCM tolerate pregnancy uneventfully,
8
as with other pre-existing heart disease, any subclinical
cardiomyopathy may be associated with the worsening of
symptoms in the second trimester of pregnancy when the
haemodynamic stress on the heart is maximal.
4
However, recent
attempts to broaden the traditional gestational period defining
PPCM
6
have renewed the controversy. Clear consensus on case
definition is vital before clinical and epidemiological patterns
can be reliably described.
Studies show 20–50% of all idiopathic DCM cases to have
familial disease.
9-11
Although women have been shown in some
studies to be equally affected as men,
9,12
more studies suggest a
male predominance.
10
However, less than a handful of studies
report on the incidence and outcomes of pregnancy in women
with familial DCM.
8
To the best of our knowledge, no study
has systematically investigated all immediate relatives of PPCM
patients to ascertain the prevalence of familial DCM among
these patients.
PPCM and familial DCM
There have been several reports of familial disease in PPCM.
1,13,14
Two Western studies and one South African case series suggest
that a subset of PPCM patients may be part of the spectrum
of familial DCM presenting in the peripartum period.
10,14,15
Surprisingly, PPCM patients in each of these two Western
studies almost uniformly presented postpartum, with only
one case in each study presenting within the last six weeks
of term pregnancy (i.e. only one to two weeks from the
I:1
60 yrs
Had “heart problem”,
then CVA.Died
shortly after CVA.
I:2
II:1
39 yrs
DCM on
screening
Admits to
symtoms
II:9
II:2
38 yrs
II:10 II:11
II:3 II:12
II:13
II:5
28 yrs
Palpitations for
years; occasional
lightheadedness.
Screened: Echo-
cardiogram normal.
Wolf-Parkinson-White
syndrome found.
24-hour Holter: no
concerning arrythmias.
Accessory pathway
ablated in
February 2009.
II:6 II:14
II:7
23 yrs
Asymptomatic
after 1st childbirth.
Symptomatic 1
month after 2nd
childbirth. PPCM
diagnosed.
II:8
22 yrs
Screened: found
asymptomatic CM.
Echocardiogram:
LV non-dilated,
EF 42,6%. ECG:
normal, PR
interval 132 ms.
24-hour Holter:
no concerning
arrhythmias.
III:11
15 yrs
III:11
3 yrs
III:11 III:13 III:14
III:8
III:11
III:9
III:12
III:10
III:6 III:7
III:1 III:2 III:3
15 yrs
Some dizziness
III:4
11 yrs
III:5
5 yrs
Fig. 2. Pedigree of index case (arrowed) with peripartum cardiomyopathy with familial disease (Family II).
Legend
Males Females
Not screened, or no known features of DCM
N N
Screened normal
Affected with DCM
Reduced ejection fraction
Arrhythmia detected on screening
? ?
Possibly affected from verbal history
Deceased
N
N
N
N
N
N
?
II:4
30 yrs
Developed
HF 3–4 years
after 1st
childbirth. Her
HF worsened
2 weeks after
2nd childbirth.
Later had CVA,
then died one
year after 2nd
childbirth.
?
