Endgames Picture Quiz

A man with hypertension and two murmurs

BMJ 2012; 344 doi: http://dx.doi.org/10.1136/bmj.e956 (Published 15 February 2012) Cite this as: BMJ 2012;344:e956
  1. Stuart C G Rison, final year medical student1,
  2. Toby P Locke, final year medical student1,
  3. Eric Rosenthal, consultant paediatric cardiologist2,
  4. Sandeep Gandhi, consultant cardiologist3
  1. 1King’s College London, London SE1 1UL, UK
  2. 2Evelina Children’s Hospital, St Thomas’ Hospital, London, UK
  3. 3Medway Maritime Hospital, Gillingham, UK
  1. Correspondence to: S C G Rison stuart.rison{at}doctors.org.uk

A 34 year old white man was referred by his general practitioner to our cardiology clinic with hypertension and a six month history of intermittent lower midsternal chest pain. The pain radiated to the left side of his back and was unrelated to physical exertion. He also reported two episodes of sudden onset dyspnoea, which lasted a few minutes, occurred at rest, and was not associated with chest pain or cardiac symptoms. He had not experienced such symptoms previously. His exercise tolerance was normal.

On examination, he was comfortable at rest. His heart rate was regular, at 80 beats/min. He had a large volume “collapsing” pulse, a prominent carotid pulse, and bounding peripheral pulses. His jugular venous pressure was not raised. There was no radioradial delay but radiofemoral delay was noted. His blood pressure was 210/70 mm Hg. The apex beat was visible and displaced 3 cm left of the midclavicular line in the fifth intercostal space. A left parasternal heave was noted. On auscultation, a loud early diastolic murmur and a systolic murmur were heard. Examination of the respiratory, abdominal, and neurological systems was unremarkable. Figure 1 shows his chest radiograph.

Figure1

Fig 1 Posteroanterior chest radiograph

Questions

  • 1 On the basis of the clinical findings and chest radiograph, what diagnoses can be made?

  • 2 What investigations might help you confirm the suspected diagnoses?

  • 3 What are the management options and long term prognoses?

Answers

1 On the basis of the clinical findings and chest radiograph, what diagnoses can be made?

Short answer

Rib notching (fig 2), cardiomegaly, loss of aortic knuckle, systolic hypertension, and systolic murmur are consistent with coarctation of the aorta; the widened pulse pressure, loud early diastolic murmur, and prominent carotid pulse suggest aortic valve regurgitation. The aortic valve is bicuspid, thus prone to regurgitation, in 20-85% of patients with coarctation.

Figure2

Fig 2 Posteroanterior chest radiograph showing characteristic inferior rib notching (Roesler’s sign, red arrows) owing to expansion of collateral vasculature in response to coarctation. Loss of the aortic knuckle (usual location indicated by red broken arc) and cardiomegaly are also seen

Long answer

The chest radiograph shows rib notching (Roesler’s sign), cardiomegaly—a cardiothoracic ratio larger than 50% (52% as measured by standard (Danzer) method.1), and loss of the aortic knuckle (fig 2).2 3 The blood pressure reading shows systolic hypertension and a wide pulse pressure. The rib notching, raised systolic blood pressure, and systolic murmur are consistent with coarctation of the aorta. The widened pulse pressure and loud early diastolic murmur are indicative of aortic regurgitation.

Coarctation typically presents with hypertension in the upper limbs (resulting in a high brachiofemoral blood pressure index) and weak delayed pulses in the legs (radiofemoral delay evident on examination). The site of coarctation is usually distal to the left subclavian artery and there is no radioradial delay; however, such a delay may occur if the coarctation occurs between the brachiocephalic artery and the left subclavian artery. Coarctation leads to the development of collateral arteries, which may be divided into long and short collateral pathways.2

The long collateral pathways connect the anterior branches of the internal mammary arteries to the posterior intercostal arteries (which arise from the descending thoracic aorta). These tortuous and dilated collateral intercostal arteries erode the undersurfaces of the ribs and are responsible for the classic rib notching. In the short collateral pathways, blood reaches the descending aorta through the first and second posterior intercostal arteries and their anastomoses with the third and fourth intercostal arteries. This pathway does not travel the length of the ribs, so the upper ribs are usually spared from notching (fig 2).2 4

The aortic valve is bicuspid in 20-85% of people with coarctation, and such valves are prone to aortic regurgitation.5 6 7 Other associated lesions include subvalvular, valvular, or supravalvular aortic stenosis; mitral valve stenosis and parachute mitral valve (a complex known as Shone’s syndrome); and complex congenital heart defects.5 The regurgitant flow causes a decrease in the diastolic blood pressure in the aorta and therefore an increase in the pressure difference between aortic systolic and diastolic blood pressures (pulse pressure).

When it is associated with at least one other cardiac or aortic lesion (such as aortic valve disease, ventricular septal defect, mitral valve disease, or coronary artery disease), the coarctation is referred to as complex coarctation and prognosis greatly depends on associated intracardiac anomalies.8 9 10

Aortic regurgitation typically presents with a large volume “collapsing” pulse and bounding peripheral pulses (Watson’s water hammer pulse). A plethora of other eponymous signs is also associated with the condition,11 of which the most commonly recognised are Corrigan’s pulse (rapid upstroke and collapse of the carotid artery pulse), Quincke’s sign (pulsation of the capillary bed in the nail), de Musset’s sign (head nodding in time with the heart beat), and Duroziez’s sign (intermittent femoral artery murmur generated by femoral artery compression).

Patients with aortic regurgitation would be expected to have an early diastolic murmur and, possibly, a displaced heaving apex beat (owing to left ventricular enlargement) and a fourth heart sound (S4). Coarctation often produces a systolic murmur heard anteriorly over the coarctation or over the back, and a vascular bruit from collateral circulation may also be audible.

2 What investigations might help you confirm the suspected diagnoses?

Short answer

Transthoracic echocardiography would enable diagnosis of aortic coarctation and aortic valve regurgitation. Computed tomography and cardiac magnetic resonance imaging are the investigations of choice for assessing coarctation; evaluation of the aortic valve and cardiac function may require transoesophageal echocardiography, especially if surgical intervention is planned.

Long answer

As for all patients with hypertension, it is important to assess for evidence of end organ damage (electrocardiography to look for cardiac changes; urine analysis for renal damage; ophthalmoscopic examination for retinal damage). In addition to these routine investigations, transthoracic echocardiography is a non-invasive test that is suitable for the diagnosis of aortic valve regurgitation, assessment of its severity, and measurement of cardiac function (for example, ejection fractions).5 In addition, Doppler flow scans measured from the suprasternal notch may permit visualisation and diagnosis of aortic coarctation.12

In all but the mildest cases, further investigation is needed to direct appropriate medical and surgical treatment. Transoesophageal echocardiography is sometimes necessary—for example, if transthoracic echocardiography does not adequately visualise valvular function or if surgical intervention is planned (figs 3and 4). If available, computed tomography or cardiac magnetic resonance imaging is best suited to assess the coarctation.5 13

Figure3

Fig 3 Transoesophageal echocardiogram showing bicuspid aortic valve in short axis view

Figure4

Fig 4 Transoesophageal echocardiogram with Doppler imaging showing retrograde flow indicative of aortic valve regurgitation

Patients with coarctation should be followed up at least every other year. Although computed tomography is cheap, widely available, and combines high levels of spatial resolution with rapid acquisition time, it exposes patients to high levels of radiation and may not be suitable for younger patients who require follow-up.5

In female patients, it is important to consider Turner’s syndrome (45XO) because coarctation is seen in 10-17% of these patients.6 14 Other associations include Williams-Beuren syndrome, congenital rubella syndrome, neurofibromatosis, Takayasu’s arteritis, and trauma.5

3 What are the management options and long term prognoses?

Short answer

Aggressive medical management of hypertension is usually started before definitive treatment of aortic coarctation (usually endovascular stenting); even with definitive treatment, most patients remain hypertensive for life. Coexistence of aortic valve regurgitation and aortic coarctation usually warrants surgical replacement or repair of the aortic valve.

Long answer

Aggressive medical treatment of hypertension is usually started as soon as the diagnosis is made. The benefits of this are twofold—it reduces the risk of further vascular and end organ damage and lowers blood pressure in preparation for endovascular or surgical intervention. Even with definitive treatment of the coarctation, 25-75% of patients are still hypertensive 30 years after surgery,8 and long term antihypertensive treatment is usually needed.6 Patients are also at increased risk of cardiovascular complications (such as coronary artery disease, congestive cardiac failure, cerebral aneurysms, and stroke).10

Definitive treatment of the coarctation can be endovascular or surgical. Endovascular options are balloon dilatation angioplasty or stent implantation.15 Surgical options include end to end resection and anastomosis, patch repair, tube grafts, and subclavian flap arterioplasty.6

Endovascular interventions have similar clinical outcomes to surgical management and are less invasive.6 14 Endovascular stenting has emerged as the mainstay intervention (figs 5 and 6), with better clinical outcomes and fewer complications than surgery.6 16

Figure5

Fig 5 Anterioposterior angiogram of the descending aorta showing coarctation distal to the left subclavian artery

Figure6

Fig 6 Lateroposterior angiogram of stented coarctation

The only definitive treatment for aortic valve regurgitation is surgical valve replacement or repair, although such interventions are not deemed necessary in all cases. However, the coexistence of aortic valve pathology and aortic coarctation usually warrants surgical treatment. A staged management approach is usually used in such cases, with stenting of the coarctation performed first.17 If aortic valve surgery is still needed, stenting lowers the risk associated with the operative bypass procedure.

Although aortic coarctation is often seen as an isolated vascular defect, it should be considered as an element of a diffuse arteriopathy, and as such patients require appropriate long term follow-up.10 14

Patient outcome

Our patient was admitted and started on an aggressive blood pressure lowering treatment of bendroflumethiazide 2.5 mg, atenolol 100 mg, and amlodipine 10 mg, as well as simvastatin 40 mg (all once daily). Once stabilised, he was discharged and later underwent endovascular stent insertion (figs 5 and 6). He is currently being assessed for aortic valve replacement.

Notes

Cite this as: BMJ 2012;344:e956

Footnotes

  • Competing interests: All authors have completed the ICMJE uniform disclosure form at www.icmje.org/coi_disclosure.pdf (available on request from the corresponding author) and declare: no support from any organisation for the submitted work; no financial relationships with any organisations that might have an interest in the submitted work in the previous three years; no other relationships or activities that could appear to have influenced the submitted work.

  • Provenance and peer review: Not commissioned; externally peer reviewed.

  • Patient consent obtained.

  • The first two authors contributed equally to this publication.

References