Congenital heart disease.

Diagnostic possibilities.

Patients who have a murmur but don’t have straightforward valvular heart disease are relatively common in resource constrained environments, and should be referred for full evaluation. This process usually happens, but then the plan initiated at that stage may go wrong – notes and letters are lost, even the actual hospital attended may not be recalled. Such patients often end up on a merry-go-round of repeat visits to referral centres.

• If the patient arrives with no notes, but has notes at home, ask to see them – it may all be written there.
• If there is no documentation but the patient recalls the hospital and the rough date of visit, it is usually possible to get faxed some record of what transpired.
• That deals with about 90% of adult patients with congenital heart disease. The remainder are either new patients or known patients with new symptoms. Sudden difficulties with a disability grant may invoke new complaints.
• Establish the level and type of activity causing symptoms.
• What medication is currently being used?
• Is the patient cyanosed? If genuinely not sure, consider oximetry, or blood gases if these are available. This is a core step in assessment. Remember that patients with shunts are often plethoric, so take this into account when deciding.
• Clubbed? Peripheral oedema?
• The rest of the CVS examination should be thorough and carefully documented, but think particularly about the possibility of pulmonary hypertension.

Condition	Features
ASD	ESM pulmonary area. Easily heard S2 split, doesn’t change with respiration
VSD	Pansystolic murmur clearly maximal at LSB, harsher than usual MR
PDA	To-and-fro murmur usually PA. Don’t confuse with a rub!
Fallot’s	Cyanosis, RVH and pulmonary flow murmur
Pulm stenosis	ESM PA. RVH on ECG if significant
Coarctation	Hypertension with poor foot pulses. Feel femorals and do BP in the legs
Eisenmenger’s	Cyanosed, RV lift at the LSB.

Ventricular septal defect.

Small VSDs make a lot of noise and usually have a thrill but don’t do much haemodynamic harm. Twenty-five year survival is more than 95%. The patient is usually well with a loud pansystolic murmur at LSB. There is a moderate risk of endocarditis so they should receive antibiotic prophylaxis as for patients with valvular disease. Patients with larger VSDs may have missed health care attention as children, or there may have been other reasons why surgery was not performed.

Complications of VSD

In this report the risk of endocarditis was about 0.2% per year¹; the lifetime risk of ventricular arrhythmias was 20% with a 4% lifetime risk of sudden (arrhythmogenic?) death. The lifetime risk of developing Eisenmenger’s syndrome was 10 to 15%. For those developing Eisenmenger’s, 25 year survival was 40%.

Indications for surgery

All patients (other than those with Eisenmenger’s) with a VSD should be discussed with a cardiologist with a view to consideration for surgery, although as mentioned above if there is no evidence of pulmonary hypertension and only a systolic murmur, then they should probably be left alone.

Atrial septal defect.

This is one of the more common presentations of congenital heart disease in adults. Patients may manage for up to 40 years without symptoms, but thereafter mortality is quoted as being up to 6% per year.² Deterioration is probably due to a combination of:

• Reduced LV compliance with aging leading to increased left-to-right shunting.
• Atrial tachyarrhythmias becoming more common.
• Worsening pulmonary hypertension.

Diagnosis – fixed splitting of S2 and sometimes a pulmonary flow murmur. The cast in stone presence of a ‘fixed split’ is probably untrue – in a phonocardiography paper from the 1950s³ sensitivity was 88%, meaning more than one in 10 patients with the condition don’t have a fixed split, probably reflecting presence of severe RV disease or perhaps very small shunts.

The clinical value of the ECG has been studied in children⁴ where the finding of either an rsR’ in V1, RVH, or both, was present in 94% (spec 0.86, LR+ 6.9, LR- 0.1, NPV 0.94 (95% CI 0.86 to 0.98.)

Young adults who are operated on early end up with normal survival, and surgery should be considered in all individuals with symptoms and no pulmonary hypertension, especially if the shunt is large (pulmonary flow on Doppler more than twice systemic flow). Prognosis in older individuals having surgery is less clear, and is based on rather old studies – refer for evaluation if in any doubt. The risk of endocarditis is low and prophylaxis is not usually recommended.

Perspective – patent foramen ovale.

The relevance of the recognition of ASDs applies not just to their cardiological importance; strokes in young individuals have been attributed to ‘potential’ ASDs, where a foramen ovale is either patent all the time or only during Valsalva. Frequency ranges from 54% in an early study ⁵ in a sub-group with no other identifiable cause for stroke, to 43% in a more recent prospective study.⁶ Conventional transthoracic echocardiography is not very good at picking them up, with sensitivities ranging from 13% to 47%,⁷ even with the use of contrast. An as yet uncorroborated study from Finland⁸ looked at the use of ear oximetry. A dip in saturations after a 15 second Valsalva against a BP manometer to 45 mmHg, followed by a sharp inspiration against a closed valve was purported to have 85% sensitivity and 100% specificity.

If this test is validated, it could prove quite useful, as the combination of a normal ECG and a negative oximetry test would effectively exclude the diagnosis unless the pre-test probability was very high for some other reason:

	Pre-test probability
	0.01	0.05	0.10	0.25	0.50	0.75	0.90	0.95	0.99
Revised probability
Negative ECG	0.00	0.01	0.01	0.03	0.09	0.23	0.47	0.66	0.91
Negative ECG + oximetry	0.00	0.00	0.00	0.01	0.02	0.06	0.15	0.28	0.66

Fallot’s tetralogy.

This is not often seen in adults unless they were operated on in childhood. The four components are pulmonary stenosis, a VSD, an over-riding aorta and right ventricular hypertrophy.

Suggestive findings are cyanosis and clubbing with a pulmonary stenosis-type murmur and a single second sound. RVH on CXR and ECG and relatively oligaemic lung fields are the classic signs in infancy. If surgery was performed and complete correction was not feasible, then shunts used include Blalock (subclavian to pulmonary artery) and Waterston (pulmonary artery to aorta). Later complications may relate to pulmonary stenosis or regurgitation (if symptomatic refer for consideration for surgery) and systemic hypertension. Patients are at risk of endocarditis.

Eisenmenger syndrome

This is due to long standing pulmonary hypertension.

Hyperviscosity – dizziness, paraesthesia and fatigue. Very gentle venesection may help if HCT>0.65 and you are convinced that the symptoms are due to hyperviscosity. Patients are often iron deficient, and a small dose of iron sulphate (one tab per day) may improve the microcirculation (tiny RBCs are less deformable) but be careful as a sudden rise in haematocrit can make matters worse.

Bleeding – platelet dysfunction and acquired von Willebrand factor deficiency lead to increased bleeding risk. Avoid aspirin and think very carefully about using warfarin in atrial fibrillation. At the very least do PTT and INR before embarking on warfarin Rx, and then go slowly.

Gout – standard therapy with allopurinol or colchicine or both if necessary. Non-steroidals are relatively contra-indicated because of salt retention.

Aortic coarctation.

This is usually picked up by thorough examination of a patient with newly diagnosied hypertension. If you don’t feel the pulses in the feet and don’t feel for radio-femoral delay, then you and your patients will miss out on the diagnosis… It may rarely present as LVF or aortic dissection or rupture. Sometimes you can see or hear collaterals over the chest, usually on the back.

Radiofemoral delay is a frequently touted sign whose diagnostic performance is unknown. A study looking at its value in picking up re-stenosis in patients previously operated on for coarctation found sensitivity of only 29% and specificity 89%⁹ and an alternative recommendation (also of poorly documented diagnostic value) is to look for a discrepancy between calf and arm blood pressure of more than 20 mmHg. Unsurprisingly this difference is correlated with degree of stenosis at the coarctation – if it is more than 75%, the difference may be 40 mmHg, if it is less than 50% there may be no difference.¹⁰

The classical chest XRay signs are rib notching, the ‘3 sign’ where an indentation on the left border of the proximal descending aorta may indicate the site of the coarctation, and LVH.

Patent ductus arteriosus.

Fairly rare – machinery murmur. The few you are likely to see in adults are either tiny and noisy, sometimes even with a thrill or else associated with Eisenmenger’s, in which case there is classically clubbing and cyanosis of the toes and pink unclubbed hands – so-called differential cyanosis.¹¹ Large shunts can cause cardiac failure.

Transposition of the great arteries.

The usual operation done was a ‘Mustard’ procedure, or variation on this theme, where a baffle is created to switch blood to the appropriate ventricle. A failing RV which is unable to cope with systemic pressures may cause late presentation, and baffle obstruction presents with right sided failure as well. Refer.

Patients operated on as children.

• Skilled and dedicated cardiothoracic paediatric surgeons perform a wide variety of procedures. However, they seldom seem to leave the patient with a permanent record of what was done. Trying to work it out clinically can be difficult or impossible without some background information.
• If the patient is well, and has come about something else, it is probably not necessary to make too much of an issue, but it is still worth trying to get old notes in some way.
• If the patient is sick, consider infective endocarditis.
• If the patient is chronically ill with central cyanosis, right heart failure and a RV lift, it is likely that whatever happened has led to irreversible pulmonary hypertension. Surgical correction is unlikely to be successful, whatever the underlying cause. If in doubt discuss.
• If you are not sure, refer.

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1. Ammash NA, Warnes CA. Ventricular septal defects in adults.  Ann Intern Med. 2001;135:812-824 ↩

2. Braunwald E.  Heart Disease. A Textbook of Cardiovascular Medicine. WB Saunders Company 1992. p 968 ↩

3. Leatham A, Gray I. Auscultatory and phonographic signs of atrial septal defect. Br Heart Journal 1955 p 195 ↩

4. Zufelt K, Rosenberg HC, Li MD. et al. The electrocardiogram and the secundum atrial septal defect: a re-examination in the era of echocardiography. Can J Cardiol. 1998;14:227-32 ↩

5. Lechat P, Mas JL, Lascault G, et al. Prevalence of patent foramen ovale in patients with stroke. N Engl J Med. 1988;318:1148-52 ↩

6. Mesa D, Franco M, Suarez de Lezo J, et al. Prevalence of patent foramen ovale in young patients with cerebral ischemic accident of unknown origin. Rev Esp Cardiol. 2003;56:662-8 ↩

7. Di Tullio M, Sacco RL, Venketasubramanian N, et al. Comparison of diagnostic techniques for the detection of a patent foramen ovale in stroke patients. Stroke. 1993;24:1020-4 ↩

8. Karttunen V, Ventila M, Ikaheimo M, et al. Ear oximetry: a noninvasive method for detection of patent foramen ovale: a study comparing dye dilution method and oximetry with contrast transesophageal echocardiography. Stroke. 2001;32:448-53 ↩

9. Therrien J, Thorne SA, Wright A, Kilner PJ, Somerville J. Repaired coarctation: a “cost-effective” approach to identify complications in adults. J Am Coll Cardiol. 2000 Mar 15;35(4):997-1002. doi: 10.1016/s0735-1097(99)00653-1. PMID: 10732900. ↩

10. Engvall J, Sonnhag C, Nylander E, Stenport G, Karlsson E, Wranne B. Arm-ankle systolic blood pressure difference at rest and after exercise in the assessment of aortic coarctation. Br Heart J. 1995 Mar;73(3):270-6. doi: 10.1136/hrt.73.3.270. PMID: 7727189; PMCID: PMC483811. ↩

11. Singh J and Singh A. Differential cyanosis. Am J Med 2013;126(10),e9 https://doi.org/10.1016/j.amjmed.2013.03.014. ↩

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