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Journal of Medicine, Radiology, Pathology & Surgery (2015), 1, 26–28
CASE REPORT
Hypoplastic left heart syndrome with parchment left
ventricle: A rare perinatal autopsy case report
K. R. Chatura1, G. V. Neethu1, K. S. Mavintop2
1
Department of Pathology, JJM Medical College, Davangere, Karnataka, India, 2Consultant Obstetrician, Mavintop Hospital, Davangere, Karnataka, India
Keywords
Autopsy, hypoplastic left heart syndrome,
parchment left ventricle
Correspondence
Dr. K. R. Chatura, Department of Pathology,
JJM Medical College, Davangere - 577 004,
Karnataka, India.
Email: [email protected]
Received 18 January 2015;
Accepted 25 February 2015
Abstract
Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of
the left-sided cardiac structures, resulting in obstruction to blood flow from the left
ventricular outflow tract. In addition, the syndrome includes underdevelopment of the
left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. The syndrome
can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation.
This is a fetal autopsy case report of HLHS, which was diagnosed on ultrasonography
and medically terminated at 20 weeks of gestation. The autopsy and histopathological
findings are discussed in detail. Some important aspects of epidemiology, prenatal
diagnosis, and current literature on HLHS are highlighted.
doi: 10.15713/ins.jmrps.12
Introduction
Autopsy findings
The most common major congenital anomalies are
cardiovascular which occur in approximately 8 of 1000 births
and account for approximately 20% of neonatal deaths and 50%
of infant deaths, and are seen four to five times more frequently
in stillbirths than in live-born babies.[1]
Hypoplastic left heart syndrome (HLHS) is a rare uniformly
fatal disease if it is not treated. No geographical or ethnic
predilection in the worldwide distribution. Death results within
few weeks after birth because of variable underdevelopment of
the left ventricle that is unable to sustain the systemic circulation.
In HLHS, the structural defect is variable but generally involves
all or most components of the left side of the heart, i.e. the left
atrium, mitral valve, and aorta are underdeveloped or absent.[2]
Even in resource-limited countries, the use of echocardiogram
has made it possible to make an accurate diagnosis of specific
heart lesions, even though the multidisciplinary approach is still
a mirage in these settings.[3]
Parental consent for autopsy was obtained. The autopsy revealed
the body to be that of a well-developed 430 g male infant of
approximately 20 weeks’ gestation. External appearance was
normal without any gross deformities. The baby was cyanotic.
Abnormal fluid collection in pleural and peritoneal cavities was
seen. All body organs were present and in normal anatomical
position; there was no malrotation of the organs. The most
notable findings involved the heart, which was abnormally
shaped, weighed 10 g with measurement of 2 cm × 1 cm × 1 cm,
the left ventricle was pale and markedly thinned out [Figure 1].
Right ventricle was thickened with both aorta and pulmonary
artery arising from it. Aorta was equal in size with pulmonary
artery suggesting aortic atresia. Both ventricular and atrial septal
defect and patent ductus arteriosus were present. Left atrium was
hypoplastic with mitral atresia.
Histological examination showed absence of myocardium in
the free left ventricular wall with epicardium separated by only
wisps of cardiac muscle from the endocardium [Figure 2].
Case Report
We report a case of fetal autopsy with left hypoplastic heart
syndrome, which was antenatally confirmed on ultrasonography
(USG) and hence medically terminated at 20 weeks of gestation
in a 23-year-old mother who was gravida 3, para 0, and abortion 3.
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Discussion
Lev in 1952, termed HLHS initially as hypoplasia of the aortic
tract complex. HLHS was first used in 1958, by Noonan and
Nadas to collectively describe their series of specimens with
Journal of Medicine, Radiology, Pathology & Surgery ● Vol. 1:2 ● Mar-Apr 2015
Chatura, et al.
Figure 1: Markedly thinned out left ventricle
Figure 2: Absence of myocardium in free left ventricular wall with
epicardium separated by only wisps of cardiac muscle from the
endocardium (H and E, ×40)
multiple malformations involving left-sided structures of the
heart.
HLHS refers to the abnormal development of the left-sided
cardiac structures, resulting in obstruction to blood flow from
the left ventricular outflow tract. The syndrome also includes
underdevelopment of the left ventricle, aorta, aortic arch, mitral
atresia or stenosis. As in most congenital heart diseases, the
embryologic cause is not fully known. A multifactorial influence
is attributed to be the cause of up to 90% of cardiac anomalies,
with a 2% to 6% recurrence rate in further offspring.[4]
A normal fetus has a parallel circulation that adequately
supports single-ventricle physiology before birth. Three
communications (the ductus venosus, foramen ovale, and
ductus arteriosus) shunt oxygenated placental blood largely
Journal of Medicine, Radiology, Pathology & Surgery ● Vol. 1:2 ● Mar-Apr 2015
Hypoplastic left heart syndrome
past the hepatic and pulmonary beds to supply the splanchnic
circulation. HLHS is well supported in this situation, and as a
result, it is rarely a cause of fetal demise. And hence HLHS is
probably a secondary result of early obstructive lesions of either
mitral or aortic valvular development. However, the primary
cause of the obstructive flow lesion that leads secondarily to
HLHS is unknown. This argues for a complex early multifactorial
event or, more likely, a transient early insult.[5]
Patients are categorized into three primary subsets on the
basis of atrioventricular and semilunar valvular morphology:
1. Aortic atresia with mitral atresia (40%),
2. Aortic stenosis with mitral stenosis (30%), and
3. Aortic atresia with mitral stenosis (30%)[5]
The said fetus had both aortic atresia and mitral atresia and
was supported by ductus venosus, foramen ovale, and ductus
arteriosus. The free left ventricular wall was parchment like, an
unusual feature, often described in the right ventricle in cases
of Uhl’s syndrome.[6] Histological examination confirmed the
absence of muscle, a thin layer of elastic and fibrous tissue being
all that separated the epicardium, and the endocardium.
Prenatal echocardiography can be used to detect unbalanced
ventricles as early as 20 weeks of gestational age. Postnatal
echocardiography establishes the diagnosis and guides medical
and surgical decision-making.[5]
An increase in the number of cases in which HLHS is detected
prenatally is seen because of the widespread use of ultrasound
screening for fetal malformations. Despite this advantage which
provides the opportunity to plan perinatal management, the
outlook for these fetuses is still poor, with an overall survival rate
below 40% and highlights the importance of presenting these
figures when counseling parents with affected foetuses. Several
factors explain the discrepancies between fetal and surgical
series. These limitations worsen with the negative feedback
generated by the high rate of termination of pregnancy (TOP)
following prenatal diagnosis of HLHS.[7]
With the incidence of HLHS about 0.1-0.25/1000 live births,
in the Indian scenario, we should expect about 2000 babies with
HLHS born every year. In reality, the total number of babies with
HLHS seen in major centers in India will not be more than 100
children/year. Most of the fetuses with a diagnosis of HLHS get
terminated by parents’ options and counseling offered to them
by perinatologists.[8]
The main reason for referral was suspected heart defect on
a routine ultrasound scan (82%). The mean gestational age at
diagnosis was 21 weeks. Most cases were detected at ≤22 weeks
(72%), the upper limit for TOP in Spain. 79% (58/73) of the cases
in which HLHS was detected at ≤22 weeks were terminated.[7]
HLHS constitutes 5% of all cases of congenital heart disease
and is responsible for 25% of cardiac deaths in the 1st week of
life. Among 10,000 live births, approximately 1.8 will be born
with HLHS, with a slight male predominance. The recurrence
risk is 2.2% for one affected sibling and 6% for two affected
siblings, suggesting a genetic predisposition.[5]
Autosomal recessive, autosomal dominant, and polygenic
inheritances have been suggested. Associated extracardiac
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Hypoplastic left heart syndrome
abnormalities of craniofacial, gastrointestinal, genitourinary,
and central nervous system are seen. Prenatal diagnosis with
good counseling is necessary because of high perinatal mortality.
A karyotype analysis and detailed ultrasonographic scan should
be done to rule out other anomalies.[9]
In our case, prenatal USG established the diagnosis and
guided the decision of termination. Autopsy examination
demonstrated the HLHS without extracardiac anomalies. In
view of the previous pregnancy loss, and associated recurrence
risk counseling and karyotyping was advised.
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How to cite this article: Chatura KR, Neethu GV, Mavintop KS.
Hypoplastic left heart syndrome with parchment left ventricle:
A rare perinatal autopsy case report. J Med Radiol Pathol Surg
2015;1:26-28.
Journal of Medicine, Radiology, Pathology & Surgery ● Vol. 1:2 ● Mar-Apr 2015