Age: 30 years
Gender: Male
Occupation: Photographer
Working diagnosis: Marfan syndrome
HISTORY
Since age 10, this patient has been known to have the familial form of Marfan syndrome. Several family members had an aortic dissection.
For regular follow-up of his aortic root diameters, he visited a cardiologist once a year. Slow progression of the aortic root diameter was observed up to a diameter of 49 mm by the time he was 22 years old.
At the age of 23, he underwent an emergency aortic root replacement because of a type A aortic dissection, limited to the ascending aorta. A Bentall procedure was performed with a mechanical Medtronic Hall tilting disc aortic valve prosthesis. His postoperative course was uneventful.
When the patient was 29 years old, he underwent MR imaging for the first time as part of his routine follow-up. The aortic arch was aneurysmal with a diameter of 55 mm. He therefore underwent an elective aortic arch replacement soon thereafter. The procedure was complicated by persistent hoarseness due to vocal cord paralysis.
One year later (at age 30 years), a routine MR scan was performed and showed a descending thoracic aorta dimension of 38 mm. Six days later, he presented with acute severe interscapular pain.
Comments: Recommendations for prevention of aortic dissection in patients with Marfan syndrome include (1) life-long beta-adrenergic blockade, (2) maintenance of low normal blood pressure, (3) periodic routine imaging of the aorta, and (4) moderate restriction of physical activity. Monitoring of the aortic root with echocardiography is very important, but the rest of the aorta should also be visualized, for example, with MRI or CT (MRI is preferable for recurrent imaging because it does not use radiation).
Indications for elective aortic root replacement in Marfan syndrome are (1) aortic root diameter of 55 mm; (2) aortic root of 50 mm if there is a family history of aortic dissection, if there is aortic growth of more than 2 mm per year, or if valve-sparing surgery is planned; (3) aortic root of 45 mm if valve-sparing surgery is planned, or—for female patients—when pregnancy is contemplated.
In this patient a type A dissection occurred at an aortic root diameter of around 50 mm. His risk of such an occurrence was high given his family history. Aortic root diameters should be monitored more frequently when diameters come close to 50 mm in these high-risk patients (every 3 to 6 months), or elective surgery should be planned.
Before and after aortic root replacement, regular imaging of the entire aorta should take place every 1 to 3 years with MRI or CT.
CURRENT SYMPTOMS
While the patient was watching television, he suddenly felt a severe sharp pain in his interscapular area. The pain persisted and increased, and he was brought to the hospital. He had no syncope or paralysis.
NYHA class: I (excluding acute presentation)
Comments: Despite the only slight dilatation of the descending aorta, a dissection may occur in patients with Marfan syndrome. There are no clear guidelines for elective replacement of the descending aorta. Usually, a diameter of 50 mm or more is considered an indication for preventive replacement. In Marfan syndrome, especially in high-risk patients (previous aortic dissection, family history of dissections , rapid aortic growth), surgery should be considered at smaller diameters.
The incidence of reoperation in patients with Marfan syndrome is significantly higher in patients who present initially with an acute type A aortic dissection than in those with dilation only. However, aortic rupture may occur in the downstream aorta even following uncomplicated elective aortic root surgery despite a normal-sized aorta. Close follow-up of all Marfan patients is necessary to detect asymptomatic changes requiring surgery because complex elective redo operations can be performed with a relatively low perioperative risk.
PHYSICAL EXAMINATION
BP 190/110 mm Hg (both arms), HR 100 bpm, oxygen saturation 100%
Height 205 cm, weight 102 kg, BSA 2.41 m 2
Surgical scars: Midline sternotomy after ascending aorta and arch replacement
Neck veins: Jugular veins were not dilated.
Lungs/chest: Chest was clear.
Heart: There was a grade 2/6 ejection systolic ejection murmur at the upper left sternal border. Loud aortic second heart sound. No diastolic murmur was heard.
Abdomen: No hepatosplenomegaly
Extremities: Pulsations of the femoral arteries were weak. A systolic bruit was heard over both femoral arteries.
Comments: Typically, aortic dissection may be associated with hypertension.
LABORATORY DATA
| Hemoglobin | 13.2 g/dL (13.0–17.0) |
| Hematocrit/PCV | 39 (41–51) |
| Platelet count | 123 × 10 9 /L (150–400) |
| Sodium | 135 mmol/L (134–145) |
| Potassium | 3.7 mmol/L (3.5–5.2) |
| Creatinine | 0.8 mg/dL (0.6–1.2) |
| Blood urea nitrogen | 5.4 mmol/L (2.5–6.5) |
Comments: Nonspecific thrombocytopenia is present; otherwise there are no abnormalities.
ELECTROCARDIOGRAM
FINDINGS
Heart rate: 80 bpm
QRS axis: −50°
QRS duration: 80 msec
Sinus rhythm. Left-axis deviation. No evidence of pericarditis, myocardial infarction, or ischemia.
Comments: While there is weak voltage evidence of LV hypertrophy (R1 plus S3 > 25 and R aVL > 11 mm), this may well be falsely positive in the context of left-axis deviation.
CHEST X-RAY
FINDINGS
The mediastinum was widened with prominence of the descending thoracic aorta. The heart size was normal. No pleural effusions or signs of heart failure were noted.
Comments: The contour of the aorta is of obvious importance in this case. Images should be compared to prior anteroposterior chest radiographs to look for evidence of new mediastinal widening.
ECHOCARDIOGRAM
OVERALL FINDINGS
The ventricles had normal dimensions, normal systolic function, and normal function of the mechanical aortic valve.
FINDINGS
There was dissection in the thoracic descending aorta.
Comments: The sensitivity and specificity of TEE for the diagnosis of aortic dissection are comparable to those for CT or MRI. However, for assessment of the extent of the dissection, CT or MRI is usually required.
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