A late presentation of Loeys–Dietz syndrome associated with an aortic root aneurysm

Abstract

Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative. On further investigation of her family history, it was revealed that she had a strong positive family history of aortic rupture and aneurysms associated with genetically confirmed atypical LDS. By reporting this case, we aim to highlight the importance of considering inherited connective tissue disorders when a patient presents with aortic aneurysms or dissections associated with a strong family history of aortic pathology. Case historyA 70-year-old woman was referred to her local cardiology centre with a diastolic murmur associated with dyspnoea. She reported no chest pain or fevers. Her past medical history included bronchiectasis, pulmonary embolus and deep vein thrombosis, for which she was on lifelong warfarin. Of particular note, she had a very strong family history of aortic disease and sudden death associated with genetically confirmed Loeys-Dietz syndrome (LDS). Her sister had significant aortic surgery for aortic dissection and her nephew had prophylactic aortic surgery after both had genetic testing that confirmed a diagnosis of LDS. Furthermore, her father's brother and his son had died at young ages from aortic rupture.On examination, the patient was noted to be tall with a long face and long fingers, and had translucent skin. There was no hypermobility and she had a normal palate. Her heart rate was regular at 90bpm. A diastolic murmur was noticed, loudest at the left sternal edge.Transthoracic echocardiography (TTE) showed a normal left ventricle with preserved ejection fraction, a bicuspid aortic valve with mild aortic regurgitation and a dilated aortic root measuring 4.1cm. Annual repeat TTE showed no significant enlargement of the aortic root until 2014, when the aortic root diameter measured 4.6cm. Computed tomography coronary angiography showed no evidence of coronary artery obstruction and carotid Doppler imaging was normal (Fig 1).In 2016 the patient's symptoms deteriorated with sudden onset of worsening dyspnoea and palpitations. She therefore underwent cardiac magnetic resonance imaging, which confirmed an increasingly dilated aortic root of 4.9cm (Fig 2) but there was no evidence of aortic dissection or coarctation. In addition, there was moderate aortic regurgitation. As a result, she was listed for urgent cardiac surgery.Intraoperative findings included a pseudobicuspid aortic valve with fusion of the left and right coronary cusps, and the aortic root was asymmetrically dilated. The patient underwent a mechanical Bentall procedure using a Carbomedic...

Thoracic endovascular aneurysm repair in patients with connective tissue disorders

“…Aneurysms occur less frequently in LDS, at a rate of 9 % [1]. However, the aorta is prone to the increased growth rate and can sometimes be as twice as its normal size in the thoracic region [31]. Close monitoring as well as early surgical intervention are advised to prevent catastrophic outcomes.…”

The Role of Thoracic Endovascular Aortic Repair (TEVAR) of Thoracic Aortic Diseases in Patients with Connective Tissue Disorders – A Literature Review

“…Aneurysms occur less frequently in LDS, at a rate of 9% [ 23 ] . However, the aorta is prone to have increased growth rate and can sometimes be as twice as its normal size in the thoracic region [ 24 ] . Close monitoring as well as early surgical intervention are advised to prevent catastrophic outcomes.…”