Potential role for a postmortem echocardiographic evaluation in
infants with suspected dilated cardiomyopathy
Mani Ram Krishna and Usha Nandhini Sennaiyan
Tiny Hearts Fetal and Pediatric Cardiac Clinic
Thanjavur
Keywords: postmortem echocardiogram, sudden infant death, ALCAPA
Correspondence to
Dr Mani Ram Krishna
Tiny Hearts Fetal and Pediatric Cardiac Clinic
No 7, V.O.C. Nagar,
Thanjavur – 613007
E-mail:
mann_comp@hotmail.com
Conflict of Interest: None
Funding involved in the study: None
Data Availability Statement:
The data that support the findings of this study are available on
request from the corresponding author. The data are not publicly
available due to privacy or ethical restrictions.
Dilated cardiomyopathy in infants is often secondary to reversible
causes(1). These include structural heart diseases such as aortic
stenosis, coarctation of aorta and anomalous origin of left coronary
artery from pulmonary artery, incessant arrhythmias such as atrial
tachycardia and permanent junctional reciprocating tachycardia as well
as nutritional causes such as Vitamin B1 and calcium deficiency(2).
Anomalous origin of the left coronary artery from the pulmonary artery
is an important reversible cause of left ventricular (LV) dysfunction in
infants(3).
A 6-month-old baby was referred to us by a pediatrician for a suspected
dilated cardiomyopathy. The baby had presented with feeding difficulty,
fast breathing and poor weight gain over three months with an acute
deterioration over the previous week. A chest x-ray at the referring
hospital had demonstrated cardiomegaly and a screening echocardiogram
had demonstrated severe left ventricular dysfunction. An
electrocardiogram had not been obtained. The baby suffered a cardiac
arrest in the ambulance enroute to our center. She was intubated and an
inter-osseous access was obtained. Despite high quality cardiopulmonary
resuscitation for 30 minutes, the baby could not be resuscitated and was
declared dead. The cause for left ventricular dysfunction could not be
established. We hence performed a postmortem echocardiogram. There was
no cardiac activity, and the left ventricle was dilated and filled with
thrombus. The imaging of the left ventricle in the para-sternal long
axis did not suggest important aortic obstruction with a normal sized
aortic annulus and ascending aorta (Figure 1). The imaging of the aortic
valve in the para-sternal short axis view suggested that the origin of
the left coronary artery (Figure 2A and Video 1) and the right coronary
artery (Figure 2B) were normal although this could not be inconclusively
proven by color Doppler imaging. The parents refused a postmortem
evaluation. However, after detailed counseling, they agreed for genetic
testing. Whole exome sequencing of deoxyribonucleic acid extracted from
peripheral blood revealed a homozygous variant in the ALMS 1 gene
(c.12080_12083delTACT) (Transcript ID NM_015120.4) causative of
Alstrom syndrome. Dilated cardiomyopathy is a well-recognized
presentation of Alstrom syndrome in infancy.
In the past, it has been suggested that a postmortem echocardiogram
could be used as a guide to direct the potential need for postmortem
examination in sudden infant death and sudden unexpected deaths in the
young(4). Although our findings could not be backed by postmortem
anatomical confirmation, the images appeared to be reasonably convincing
to suggest that a postmortem echocardiogram can be considered for
infants in whom a comprehensive cardiac evaluation could not be
performed before death.