A simple case of congenital heart disease

62 days old baby born to a young couple out of non consanguineous marriage.
Elder sibling four years and healthy.
Pregnancy period uneventful except gestational diabetes in third trimester which was well controlled throughout. First trimester there was no exposure to teratogens.
Delivery at 38 weeks at hospital .Baby weight 2450 grams,not asphyxiated.
Baby passed meconium and urine normally breast feeding established normally and was discharged on third day.
She was gaining weight normally up to forty fifth day.
From 45 days onward  mother noticed feeding difficulty in the form of stopping and resuming in between feeds.Baby took  longer time than normal on feeding and not getting enough sleep after feeding time. She also noticed baby was breathing faster during sleep and rest and gradually losing weight.

discussion at this point

Points useful for the clinical analysis here are 

1. Onset and course of the problem.Whole problem started after one and a half months of age. Baby was gaining weight normally and no dyspnea up to this period 
2. Nature of feeding difficulty is typical.

First we ll discuss the about feeding problem.In this case the description is typical of congestive failure.'suck rest suck cycle'.With the other features of   'taking longer time to finish,never satisfied,not sleeping enough and most important point -not gaining/losing weight.Additional features like tachypnea at rest indrawing of chest excessive head sweating ' all argues for congestive failure as cause for dyspnea.
So natural tendency for a student to consider feeding difficulty with congestive failure. 
But always take proper history and observe baby feeding at least once  because there is every chance to go wrong.

• If the problem started from newborn period especially in a primi mother assess the feeding, baby first and then the mother and then the act of feeding.
•  Baby may be sick and floppy,there can be structural problems in the upper GI or a neurological problem either UMN or LMN type.
• Simple problems in the mother like engorged breast ,retracted nipple etc are missed often.
• If both of them are normal check the feeding technique.Most of the cases wrong technique or lack of confidence.
• Aspiration at the time of feeding indicates some Upper obstruction like  tracheo oesophageal fistula variants. 
• Gastro oesophageal reflux causes regurgitation after completion of feeding.
• Watching a baby feed will help us to sort out most of the problems ,and of course rectifying the mistakes also.
• Suck rest cycle usually occur in cardiac failure, but rarely it can occur in neurological problems like myo-neural junction disorders.

Here in our case mother successfully  fed an older baby who is healthy now.
Our  baby was also fed by breast and was gaining normal weight till six weeks. This rules out many of the above possibilities. 
ie it rules out all the problems from mother side ie nipple and breast, feeding technique etc 

1. problems of baby which ll present from birth ie birth defects of upper GI etc oesophageal obstructions,cleft palate. 
2. Most of the neurological problems ruled out , but not complete. eg out of the neurological problems few of them may present late after a gap. Eg botulism.pseudobulbar palsy.

So what all possibilities remains in our case?

• a  problem of baby which is present since birth but manifests later OR 
• A problem of baby  which is acquired later eg aspiration pneumonia
• OR  congenital malformation which is not severe enough to present early but manifests due to an additional problem or progression of a congenital problem by its own nature. eg a stenotic lesion of any lumen will worsen with time.
• Another eg is infection on an otherwise asymtomatic lung malformation eg cystic adenomatoid malformation or sequestration syndrome.

In our case no running nose cough or fever.No contact with case of respiratory infection ,no history of aspiration of feeds, making the chances of pure respiratory problem less likely.

So most likely a case of congestive failure starting from six weeks onward.

Naturally first possibility coming to our mind is left to right shunt VSD with moderate or large shunt.All of us know this is the classical time of presentation of VSD .Even the largest VSD usually presents this way as the high resistance in the pulmonary system left to right shunt does nt happen during the early period, and VSD is the commonest congenital heart disease of significance.

A baby presenting with congestive failure in newborn period commonest reasons are not left to right shunts. other possibilities  are 

1. increased flow cyanotic lesions,transposition without or with communication as commonest
2. stenotic lesions or atresias of left side, commonest is coarctation
3. myocardial disorders eg pompes , carnithin deficiency,
4. cardiac arrhythmias either tachy or bradi eg SVT , Atrial flutter or congenital heart blocks
5. Hypertension in newborn eg renal or CAH rarer types
6. Severe anemias 

Out of the above possibilities, most of them present within first  week.
Exceptions may be coarcation  of aorta and endocardeal cushion defect, both of which may present a bit later ,Still they ll present by third week.Endocardeal cushion defect usually present by third week. Most cases of coarctation presents in first week itself, but few of them may be silent in the first two weeks and present a bit late.

So what are the situations where congestive failure onset occur after six weeks ?

• Left to right shunt VSD moderate or large
• Another important entity we did nt consider so far is ALCAPA (abnormal origin of left coronary from pulmonary artery.They ll be symptomatic by forth week onwards.Unless we consider this entity as a possibility we are likely to miss as the clinical findings are so subtle.
• Arrhythmia which we considered earlider ,few of them may not present in newborn period and episodic 
• anemia which may gradually progress and become severe by this age 
• Hypertension 

Keeping all this possibility we ll go to the examination finding 

General examination

Respiratory rate 70/mt, with in-drawing of lower chest .
Pulse 136/mt,normal volume.
No cyanosis,Conscious irritable.
No pallor,no edema.BP not recorded.

weight 2.8 kg,
Loss of subcutaneous fat at axilla and groin obvious .

Discussion 

At  the end of history if   possibility of congenital heart disease is high,  general examination should  answer the following points.

1. vital signs stable or not . Most important vitals will be checked at the beginning even before we proceed with history. Next important in the evaluation is cyanosis as this helps to decide whether we are dealing with a case of cyanotic or acyanotic heart disease. Presence of cyanosis is more useful to categorise as absence of cyanosis does nt rule out the possibility of cyanotic heart disease. We should keep in mind about few of the increased flow cyanotic heart diseases cyanosis may be subtle or present only during crying.  Same way when cyanosis is present possibility of acyanotic heart disease with eisenmenger syndrome again may lead to wrong decision 
2. Clues towards the etiology. We get malformations due to genetic problems,early teratogenic exposure.All the clues of these we get from general examination.Features of genetic syndrome , intra uterine infections( congenital rubella) , well known effects of drugs and toxins (hydantoin ),meternal illness( Infant of diabetic mother). Even when we cant pinpoint a syndrome any malformation in general examination argues that possibility of a cardiac malformation is high in the context of an abnormal finding in the cardiovasular examination. Nature of malformation is helpful in another way, ie it ll argue for a particular heart disease in the context of a syndrome.Eg. Congenital rubella possibility of PDA,In Downs syndrome Endocardeal cusion defect.etc
3. Consequences/Complications  of the heart problem .How much it affect on the growth, development,and various signs of different complications. eg endocarditis,pneumonia.Possibility of other system complications eg Policythemia, Strokes,brain abscess.

 Findings in our case 

Baby was dyspnoeic with tachycardia, which can not be attributed to temperature,pallor or activity.
No features of thyroid dysfunction.
No malformations obvious.
There was wasting.

Cardiovascular system

Pulse.120/mt,Normal volume ,Regular in rhythm, No radio femoral delay.

Jugular pulse not visualised 

Precordium

Hyperdynamic,Epigastric pulsations seen.
Apex seen in six space on left side in the anterior axillay line.As the right margin of heart was not displaced there is left ventricular enlargement( Percussion of margins a bit difficult in this age group).
Charecter of apex ,whether forceful forceful sustained etc again a bit difficult.
Well felt apex and left parasternal lift argues enlargement of both left and right ventricle.This point is important as it  rules out possibility of myocardial dysfunction.
Possibility of volume overload/ pressure overload responsible for the forces again bit difficult.
As we discussed possibility of volume overload situations predominates in this type of  presentation.Pressure overload of left side presenting with failure either presents early or much late.Eg coarctation or critical stenosis of aortic valve.
Here Gross enlargement of LV in an acyanotic state argues for VSD/PDA or combination.
Remote possibility of regurgitant lesion is there.Endocardeal cushion defect may present with failure with very minimal cyanosis.
Left parasternal lift  was there. Here it may be due to pulmonary hypertension,associated LA enlargement or associated ASD.
Left right shunts may occur in combination where the contribution of one lesion may be dominant but the other contributes.Eg. VSD +PDA or ASD
 In our case Second sound was palpable,
No thrill
On auscultation First sound heard , second sound loud narrow split.
Systolic murmer maximum at the lower left sternal border
Low pitch diastolic murmer at the apex
Here few points in the heart sound needs to be explained.
In this case  we consider possibility of Left to Right shunt is  high and out of this possibility of VSD  high in the list. So murmur we expect is pan-systolic murmur LLSB Pan systolic murmur starts with first sound/ or even earlier. Usually the details of first sound is masked. But what we mentioned here is first sound normal.Same way the murmur mentioned here did nt start from first sound ,but systolic murmer best heard at a lower level than the usual ejection systolic murmur which we hear at the heart base.
This is the combination which is more likely when the VSD is moderate or larger.
The classical pansystolic murmur which starts with first sound, mask it and last long filling whole systole is less likely in moderate or severe VSD.
Same way auscultatory events at the apex. Very important to listen for diastolic events at the apex as this help to quantify the shunt of VSD or PDA.Larger the LV ie shifted apex , type of diastolic sound at the apex higher the shunt. Third heart sound indicates moderate shunt and MDM indicate  severe shunt.
One more point about the apical events,with development of pulmonary hypertension the apical events ll change. There ll be a recession of apex /LV towards normal.The diastolic events will disappear.
Here when we talk about heart sounds, following first and second sound we should mention about third heart sound. But it is difficult to mention the nature of third heart sound as there is MDM. Here in fact there is no need to make out third heart sound separately as the mid diastolic murmur indicates that the shunt is high.That is enough
One may ask another question
We mentioned left parasterl heave. Major reason for this is pulmonary hypertension. If so we expect the apex to recede and the diastolic events to disappear.
So , how to explain?
Very important in all these cases to answer the question of Pulmonary hypertension as this decides the indication and type of intervention and prognosis
So ,what is the intensity of second sound,is there a split, left parasternal heave all needs to be chekced
Out of this left parasternal heave may be due to multiple reasons. and the other reasons to be excluded.
More than the internsity of second sound give importance to the split and what happens in inspiration. The split narrows down as the PH increases.
Here again one more difficulty. 
Epigastric pulsation strongly argue for RV than LA enlargement as a cause of LPSH. But the heart sound mentioned as normal intensity and normal split. ie opposing points. which one should be given more value
Auscultatory events. , normal second sound with normal split to be given more value. Pulmonary hypertension if at all is there is mild only.
One more importance of auscultating second sound is to consider the possibility of co existing lesions. There may be associated PDA or ASD.
PDA continuous murmur in the second space masking the second space.
ASD nature of second sound , wide split which wont narrow down during expiration.

P/A
Liver palpable 4 cms.span 8cm.S
pleen not palpable
Provisional diagnosis.
Left to right shunt, VSD,Large shunt,in failure.
Failure to thrive due to uncontrolled failure.

Investigations
X ray was poor quality
ECG

  Regular waves with narrow qrs complexes.
 Both P and R waves 125/mt.All P waves   followed by QRS complexes.

 P waves (ideally in Lead II and V 1.here lead II   not shown) does not show high amplitude. This   is important as we would like to know whether   there is evidence of PH.
 But V 1 does nt support this idea.
 In fact V1 shows significant negative deflection,  ie possibility of LA enlargement.

QRS axis is 60,we expected right axis, But still this is normal axis.

QRS in V1 shows tall complexes. R/S ratio is more than 5.

V4 shows katz watchel phenomina

So there is ECG evidence of biventricular enlargement. 
Axis or P waves does nt support pulmonary hypertension.

ECHO Report

CHD Large VSD , Mild pulmonary hypertension.Mild mitral regurgitation.
All the findings expected. clinically except Mitral regurgitation.
Plan
Previously many cases of large and moderate VSD presenting at this age we used to manage medically. Because at that time risk of open heart surgery was high in a young child. So at that time with medical management with stress on provision of high energy diet was stressed. 
In the medical management breast feeding was continued but baby was given expressed breast milk with gokarnnam or tube feeds  , as the energy required for sucking itself will lead to failure to gain weight. Early introduction of complementary feeds with more auger and oil added were tried. Cows milk was avoided as it contains more minerals.
Mainstay of management was diuretics and ACE inhibitors. 
No role for digoxin, still some people continued digoxin also. 
When potasium sparing diuretics given with or without loop/thiazide diuretics check potasium and supplement potasium if low . This is also  important when  ACE inhibitor.
Most of the cases which were medically managed and surgery delayed ,  outcome was not good. They succumb to one of the episodes of pneumonia or they ll develop pulmonary hypertension.
One more important point is to stress on vaccination, especially H influenza and Pneumococcal.
Now  the policy is changed.
More and more cases are taken up for early surgery. Successful surgery and good outcome even at six weeks.
In our case we are planning early surgery  especially when the ECHO showed early signs of Pulmonary hypertension
Now the baby is on diuretics, Enalapril.