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An aortic dissection in a young weightlifter with non-Marfan fibrillinopathy
  1. C J Hogan
  1. Correspondence to:
 Dr C J Hogan
 Medical College of Virginia, 7532 Marilea Road, Richmond, VA, USA; chogan01yahoo.com

Abstract

Aortic dissection (AD) is an uncommon condition that occurs mainly in the older patient population (>40 years). It is rare in younger people and is usually associated with trauma, Marfan’s syndrome, or pregnancy. We report a case of a young weightlifter who died from an AD, and upon autopsy, was diagnosed as having non-Marfan’s fibrillinopathy. We recommend that AD should be considered in symptomatic patients with any family history of early cardiac deaths, a history suggestive of a connective tissue disorder (that is, multiple joint surgeries) or who practise weightlifting.

  • Aortic dissection
  • cardiac arrest
  • connective tissue disorders
  • fibrillinopathy

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Aortic dissection (AD) is an uncommon possibility in the differential diagnosis of back, chest, and abdominal pain, and of cardiac arrest, but occurs mainly in the older patient population (>40 years).1 It is rare in younger people and is usually associated with trauma, Marfan’s syndrome, or pregnancy.2 Although Marfan’s syndrome is well recognised in the emergency medicine literature, there is no mention of other fibrillinopathies or weightlifting as risk factors for AD. We report a case of AD in a young weightlifter ultimately diagnosed with non-Marfan’s fibrillinopathy.

CASE REPORT

A 27 year old, previously healthy man was weightlifting at a local gymnasium when he experienced weakness, shortness of breath, and dizziness. Emergency medical services arrived within 10 minutes and found the patient unresponsive, with pulseless electrical activity as the initial cardiac rhythm. CPR was commenced as the patient was intubated, and he received epinephrine (adrenaline) and atropine during transport.

Upon arrival at the emergency department, the patient was cyanotic without pulse, blood pressure, or spontaneous respirations. Non-reactive pupils, bilateral breath sounds, and well healed incisions over both shoulders were noted, but no elongated body habitus, pigmented maculae, or subcutaneous air were seen.

Intravenous fluids, epinephrine, and vasopressin were administered, during which the cardiac rhythm degenerated into asystole. An ultrasound of the pericardial window demonstrated no cardiac activity, pericardial effusion, or sub-diaphragmatic fluid. Despite these measures and lengthy CPR, asystole persisted and the patient was declared dead.

Relatives, once contacted, mentioned that the patient was in good health, but recalled that his mother had died at 39 years of age from an AD. The patient was aware he had an inherited connective tissue disease, having had two shoulder surgeries to repair “loose ligaments”. He had undergone an echocardiogram without findings and no limitations had been placed on his activities. His friends, with whom he had been weightlifting, denied any knowledge of ephedrine or anabolic steroid use by the patient.

An autopsy determined that the cause of death was from a ruptured type II AD originating from the aortic root, with subsequent haemomediastinum and bilateral haemothoraces. The dissection extended to compress the left anterior descending coronary and pulmonary arteries. Pathology samples demonstrated an adventitial haematoma surrounding the aortic root with separation of the elastic lamellae between the middle and outer thirds of the media, findings consistent with a non-Marfan’s fibrillinopathy.

DISCUSSION

With a mean onset age of 56.5 years, AD is a disease of older people. Patients younger than 19 years represented only 3.5% in two large series,2 and have a high incidence of congenital cardiac anomalies (such as aortic coarctation) or connective tissue disorders (Ehlers-Danlos’ and Marfan’s syndromes are the most well known).

Another AD predisposition is weightlifting, which has been previously reported in both the cardiothoracic and paediatric literature.2–5 There are no reports of AD in weightlifting patients with connective tissue disorders. The transient hypertension from increased heart rate and cardiac output have been well documented in healthy weightlifters without connective tissue disorders.6 The highest blood pressure recorded (345/245) in prior studies was during squats (the exercise our patient was performing when he developed symptoms).

The majority of reports describe ascending ADs (the area of greatest haemodynamic stress),3–5 which is also the most common location for dissection secondary to connective tissue disorders and congenital anomalies.2 In these cases, the medial portion of the aorta is weakened not from hypertension induced degeneration (as is the case with the older population1), but instead is secondary to a congenital defect.

Perhaps the most well known connective tissue disorder is Marfan’s syndrome. However, this entity represents only one end of a spectrum of conditions that stem from defective fibrillin-1 synthesis, collectively known as fibrillinopathies.7 Fibrillin-1 is the lipoprotein that serves as the framework for elastin, the major elastic component of the aortic wall.2,8,9 While Marfan’s syndrome is a dominantly inherited condition, other fibrillinopathies vary in penetrance and expression,7,8 and familiar non-Marfan’s dissections have been described.7,10–12 Recent work suggests that aortic involvement13 may be related to premature termination codon mutations,14 and to other mutations in the gene for fibrillin-1 (chromosome 15q21.1).7,8,14

Although no marfanoid features were noted on examination in this patient, his fibrillinopathy was a predisposition to developing AD, and the weightlifting activity was most probably a triggering event. A congenital structural anomaly is unlikely, as he had had a previous echocardiogram without finding.

The EM literature at this time does not include fibrillinopathies or weightlifting as AD risk factors. If AD is entertained as a possibility, aggressive blood pressure control, prompt imaging, and cardiothoracic consultation are essential. Common symptoms or complaints are back pain (55% of all presentations), chest pain (12%), lower extremity ischaemia (5%), and paraplegia (5%). The time elapsed between onset of a type A dissection and intervention is directly correlated with survival, with mortality increasing by 1% per hour.15

In conclusion, although a rare occurrence, AD should be considered in symptomatic patients with any family history of early cardiac deaths, a history suggestive of a connective tissue disorder (that is, multiple joint surgeries) or who practise weightlifting. The investigation and surveillance of fibrillinopathy patients is ill defined,2 but prompt referral and/or admission for further investigation is merited. Cessation of weight lifting or isotonic stress activities until a definitive investigation has been obtained is prudent.

REFERENCES

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