Cardiology Letters 2024, 33(6):378-383

Rare case presentation of thoracic aortic aneurysm and aortic dissection in adolescent

Lucia Bobik¹, Peter Tittel¹, Marek Kardos¹, Erika Drangova², Michal Hulman², Vladimir Sojak¹, Fadi Sabateen¹, Kristina Kasicova¹, Peter Olejnik^{1, 4}, Martin Zahorec¹, Gabriela Hrckova³, Olivia Hamidova³

¹ National Institute of Cardiovascular Diseases, Pediatric Cardiac Center, Bratislava

² National Institute of Cardiovascular Diseases, Bratislava

³ National Institute of Children´s Diseases, Department of Pediatrics, Genetic testing, Bratislava

⁴ Department Of Pediatric Cardiology, Faculty of Medicine Comenius University Bratislava, Slovakia

Introduction: Familial thoracic aortic aneurysm and aortic dissection (f/TAAD) is a genetic disease defined by disturbance in encoding the major proteins in the smooth muscle cells (SMC) contractile filaments of alpha-actin ACTA2 and myosin heavy chain MYH11, in an autosomal dominant pattern. MYH11 gene mutation is a rare cause of f/TAAD and is identified primarily in families with non-syndromic TAAD, inherited in association with patents ductus arteriosus (PDA).

Case report: We present a 17-year-old girl with TAAD of ascending aorta and MYH11 gene mutation, confirmed respectively. At the first year of age, the patient underwent PDA interventional transcatheter closure. Owing to suspicion of coarctation, recatheterization was performed at the age of 4 years, without confirmation. Afterwards she was followed up by a pediatric cardiologist. At the time of examination she was referred to consultation due to non-specific precordial feelings. Physical examination showed no signs of connective tissue abnormalities. Transthoracic echocardiography revealed severe dilation of ascending aorta with the presence of flap contour from sinotubular junction up to the ascending aorta and new onset of aortic regurgitation, and so dissection of ascending aorta was suspected. CTA was performed and confirmed the diagnosis of Standford A dissection, with the entry at the level of sino-tubular junction and re-entry at the level of ascending aorta before the epiaortic branches of the proximal aortic arch. The patient underwent surgical procedure with resection of the damaged part of aorta ascendens and implantation of tube graft, with a good postoperative course. Genetic analysis focused on genes associated with vasculopathies and connective tissue abnormalities was performed and a pathogenous variant of 4599+1G˃A MYH11 gene mutation was confirmed. There was no history of sudden cardiac death in the family, nor of other cardiovascular diseases. So far no other affected family members have been positively indicated in the pedigree: de novo mutation is probable. The patient is without any incident or complications to date; follow-up CTA scan is without progression. Postoperative repetitive magnetic resonance angiography of the central nervous system has revealed multiple changes due to previous microhemorrhagia, which are stable in observation, and the patient does not have any neurological deficit.

Conclusion: Very early presentation of ascending aorta aneurysm and dissection led to MYH11 mutation confirmation in a non-syndromic TAAD/PDA phenotype patient. The risk from the progressive character of the disease had led to intense and regular follow-up of the patient, with the need for repetitive imaging of the other parts of aorta and branches and of the cerebral arteries owing to potential future occlusive vascular pathology. Potentionally early intervention must be performed.

Kľúčové slová: TAAD; thoracic aortic aneurysm; aortic dissection; MH11 gene mutation

Uverejnené: June 1, 2024  Zobraziť citáciu