Case of the Month

A Case of “Atypical” Chest Pain

 

AUTHORS​

1. Rosemary Rusk

2. Ravi DeSilva

3. Sarju Mehta

(1) Department of Cardiology, Royal Papworth Hospital

(2) Department of Cardiothoracic Surgery, Royal Papworth Hospital

(3) Department Clinical Genetics, Cambridge University Hospital

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Key Message: “Think Aorta!”​

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History:

43-year-old farmer developed chest pain putting a machine on his tractor and attended his local A&E. There was no previous cardiac or hypertension history. 

Chest pain continued, described as atypical. ST changes were reported on ECG, and Troponin rose to 11,000. Echocardiography revealed a bicuspid aortic valve with severe regurgitation and dilated proximal aorta (4.3cm). The patient was referred to the Cardiothoracic Centre for coronary angiography, with a view to aortic valve replacement and coronary artery bypass grafting.

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Examination:

On arrival he required oxygen, pulse 90bpm, blood pressure 102/50, diastolic murmur heard, with evidence of pulmonary oedema. He was reviewed by the surgeons, and CT requested for coronary angiography and aortic imaging. 

Investigations: 

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CT reported a localised dissection in the aortic root with the flap near both coronary ostia (figure). A bicuspid valve was confirmed. Sinus of Valsalva dimensions 41x45mm, proximal ascending aorta 45x45mm, distal ascending and arch normal.

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Urgent cardiac surgery was performed, confirming circumferential aortic root dissection. The aortic valve, aortic root and proximal ascending aorta were replaced. 

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Post-operative management: 

The patient was referred to the ICC Service. Apart from a history of dental overcrowding (4 teeth), there were no other syndromic features.

In view of aortic dissection, genetic testing (R125) was performed, which reported being heterozygous for an ACTA2 missense variant c.404A>G p.(Tyr135Cys), classified as uncertain significance, with recommendation for segregation analysis.

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Echocardiography in his mother showed aortic stenosis (bicuspid valve), and aortic dilatation (4.5cm). The same ACTA2 variant is present, and pathogenicity upgraded, with a diagnosis of ACTA2-related familial thoracic aortic aneurysm.

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Discussion: 

Most individuals with ACTA2 mutations do not have syndromic features and are often diagnosed when they present with aortic events, which can occur at smaller aortic diameters than other aortopathies1. The lack of syndromic features can lead to delay in diagnosis.

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Message: 

This case highlights:

1. To include aortic dissection in the differential diagnosis of chest pain

2. To consider genetic testing in aortic dissection as outlined in ESC aortic disease guideline update*1 

3. The importance of rolling out family screening in first degree relatives*1 

 

*1 Reference: Eur Heart J 2024 45:36; 3538-3700

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​Figure: CT image showing dissection flap in the aortic root (arrowed)

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