A Tearful Cyanotic Boy

I was paged by my ED colleague at 1800H to see a emotionally labile 15 year-old boy who presented with history of recurrent haemoptysis. He is a known congenital heart disease patient who has defaulted our paediatric cardiology colleagues f/u years ago. He is in functional class II-III prior to presentation.

Record:
I would complete my examination by taking his blood pressure and to examine the abdomen, in particular, to look for a pulsatile liver.

Fingers and toes are clubbed. Cyanosed both peripherally and centrally, this boy has a regular pulse of 85 bpm, normal in volume and not collapsing in nature. Pulses are present and equal on both sides. No peripheral stigmata of infective endocarditis.

The venous pressure is elevated with a prominent v wave. The precordium is hyperdynamic with a visible pulsation noted on the right side of the chest. This is dextrocardia. The apex beat is situated at the right 5th ICS MCL. There is presence of parasternal heave with palpable P2 however there is no thrill. Auscultation revealed normal 1st and 2nd heart sounds. There is an early diastolic murmur best heard at the right 3rd ICS with patient in full inspiration, grade 3/6, and is non-radiating. There is another pansystolic murmur best heard at the right lower sternal edge, grade 2/6, and is non-radiating as well. There is loud P2 with variable splitting of the 2nd heart sound.

Lungs are clear to auscultation and there is no ankle oedema.

I would like to draw conclusion that this patient has dextrocardia with Eisenmenger syndrome most probably due to a congenital septal defect; now complicated by pulmonary hypertension, not in cardiac failure and there is no stigmata to suggest infective endocarditis. He has pulmonary regurgitation and tricuspid regurgitation which are in keeping with severe pulmonary hypertension.

Verdict:

It turned out that this patient has a complex congenital heart lesion comprising of:

1. Dextrocardia
2. VSD
3. ASD
4. Double outlet right ventricle
5. Severe pulm HT
   

Pitfalls:

Further history revealed that this child has been diagnosed with the above condition by our paediatric cardiology colleagues when he was 7. His mother relayed to me that the family were utterly upset by a open comment made a doctor while he was teaching his juniors that this patient would not be able to survive beyond 12. And hence they defaulted, pretty much out of frustration.

I think it is pertinent that we should be very tactful while breaking this news to the family.

Remember the 5T's of cyanotic congenital heart diseases?

1. Tetralogy of Fallot (TOF)
2. Transposition of the great vessels (TGV)
3. Tricuspid valve atresia
4. Total anomalous pulmonary venous return
5. Truncus arteriosus

Any of the acyanotic congenital lesions ie VSD, ASD and PDA can present with cyanosis when they develop Eisenmenger syndrome later in life.

Hence, in PACES MRCP, remember:

-Young patients (<20) with cyanosis + clubbing ->> think of TOF (commonest) and other primary cyanotic conditions
-Older patients (>20) with cyanosis + clubbing ->> think of acyanotic conditions with Eisenmenger syndrome (commonest be VSD)