VP51.08: Successful maternal and fetal outcome in a patient with Marfan syndrome with aortic root dilatation of 53mm: a case report

Isolated dilatation of the aortic root and/or ascending aorta is a rare but well-known cardiovascular manifestation, can be caused by a variety of congenital or acquired conditions; that lead to the weakening of the aortic wall. The study aimed to detect the cause and the rate of the aortic root dilatation in children and adolescents, and to assess the effect of the Beta-adrenergic blockers in preventing further dilatation in the aortic root. A case series study was perform with five years of follow-up at Al-Hawary General Hospital, National Benghazi Cardiac Center. A total of 91 patients were seen with ascending aortic dilatation and/or root dilatation during the period from 6/2016 - 6/2021 included in the study diagnosed by clinical examination, chest x-ray, and echocardiogram. The diagnosis in 34/91(37%) was Tetralogy of fallout (TOF) and truncus arteriosus, 57/91 (63%) was dilated aortic root, 25/57 (44%) bicuspid aortic valve (BAV), 22/57 (38.5%) Marfan syndrome, 4/57(7%) Noonan syndrome, 2/57(3.5%) Turner syndrome, 3/57(5%) Ehlers-Danlos syndrome, 1/57(2%) idiopathic. Follow-up results of three months – five years: 57/91 patients with aortic root dilatation were followed up, none of the Marfan syndrome and Ehlers-Danlos syndrome patients who received beta-blockers had shown progression in the dilatation of the aortic root, and all patients who had bicuspid aortic valve did not show any progression in the dilatation without using medication. Conclusions: Dilated aortic root is a common finding in Marfan syndrome, bicuspid aortic root, and Ehlers-Danlos syndrome, and its progress could be decreased by using beta-adrenergic blockers in rapidly progressing dilation.

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346. Pregnant with Marfan syndrome and aortic root aneurism: Dissection case report for the third quarter

Pregnancy Hypertension ◽

10.1016/j.preghy.2018.08.390 ◽

2018 ◽

Vol 13 ◽

pp. S131-S132

Author(s):

Fernanda Santos Belem ◽

Maria Rita Bortolloto ◽

Carolina Burgarelli Testa ◽

Rossana P. V. Francisco

Keyword(s):

Case Report ◽

Marfan Syndrome ◽

Aortic Root ◽

The Third

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445Effects of losartan and beta-blockers on aortic root dilatation in patients with Marfan Syndrome - results of the extended COMPARE trial

European Heart Journal ◽

10.1093/eurheartj/ehz747.0111 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

M M Van Andel ◽

J Jalalzadeh ◽

R Indrakusuma ◽

R Balm ◽

J Timmermans ◽

...

Keyword(s):

Root Growth ◽

Marfan Syndrome ◽

Aortic Root ◽

Favourable Effect ◽

Study Cohort ◽

Aortic Root Dilatation ◽

Dilatation Rate ◽

Β Blocker ◽

Β Blockers

Abstract Introduction Despite several randomized trials, beneficial effects of Losartan and β-blockers in adults with Marfan syndrome (MFS) are not entirely clear. The COMPARE trial previously showed a small but significant beneficial effect of Losartan on top of β-blocker use on aortic root dilatation rate. Yet, this effect was not reproduced by other trials, although in general a favourable effect of Losartan could be demonstrated. All trials in adults with MFS showed lower than expected aortic root dilatation rates, suggesting mildly affected study populations. Therefore we extended the follow-up period of the COMPARE trial up to 10 years and aimed to assess the clinical outcomes of the study cohort, as well as the effect of medication regimes on aortic root dilatation rates in the subgroup of patients with a native aortic root at initial randomization. Methods Patients previously enrolled in the COMPARE trial were retrospectively analyzed. Cardiovascular events (aortic dissections, ruptures and operations) and all-cause mortality were assessed. Individual aortic root dilatation rates were estimated in patients with a native aortic root at time of randomization on the basis of linear regression analysis of multiple transthoracic echocardiogram (TTE) results. Correlations between aortic root dilatation rates and cumulative Losartan or β-blocker treatment days were assessed with Spearman's rho (ρ). Results During a median follow-up of 8.0 years, two dissections and three deaths occurred in the 151 patients with a native aortic root at time of randomization. The 122 patients that were eligible for aortic root dilatation analysis, underwent a median of 6 TTEs. The median aortic root dilatation rate in these patients was 0.28 (interquartile range 0.09 - 0.59) mm/y. These patients were further classified as either patients with a stable aortic root (n=102) or with aortic root growth (n=20), based on the threshold of 0.9 mm per year. Patients with aortic root growth had significantly more aortic root replacements during follow-up (17/20 vs 18/102, P=0.001). Furthermore, aortic root dilatation rate was negatively correlated with the number of Losartan treatment days (ρ=−0.272, P=0.003), β-blocker treatment days (ρ=−0.217, P=0.017) and with the duration of follow-up (ρ=−0.437, P<0.001). Conclusions Our results support previous findings that Losartan and β-blockers appear to be equally effective on aortic root dilatation rate in Marfan Syndrome patients. The low event rate in the long term follow-up of this subgroup of the COMPARE trial represent a relatively mildly affected study population and an aggressive prophylactic surgical regime.

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Zespół Marfana u 7-letniej dziewczynki – opis przypadku

Nowa Pediatria ◽

10.25121/np.2018.22.2.32 ◽

2018 ◽

Vol 22 (2) ◽

Author(s):

Małgorzata Ludzia ◽

Radosław Pietrzak ◽

Bożena Werner

Keyword(s):

Marfan Syndrome ◽

Aortic Root ◽

Body Height ◽

Premature Death ◽

Joint Hypermobility ◽

Left Ventricular ◽

Ventricular Enlargement ◽

Angiotensin Ii Receptor ◽

Aortic Root Dilatation ◽

Left Ventricular Enlargement

Marfan syndrome is a systemic, autosomal dominant connective tissue disorder with variable expressivity. An early diagnosis is challenging but important, because Marfan syndrome is associated with premature death in untreated patients. The authors present a case of a 7-year-old girl with Marfan syndrome. The child’s father was diagnosed with Marfan syndrome confirmed by genetic tests. The first symptoms of Marfan syndrome in the presented patient occurred at the age of 2 years, when she presented with mitral and tricuspid valve prolapse, scoliosis, joint hypermobility and body height above 97 percentile. In regular check-ups, aortic root dilatation and the enlargement of the left ventricle were first described one year later. It was decided to introduce beta blocker therapy. Due to the further progression of left ventricular enlargement the girl was given additionally angiotensin II receptor antagonist. In echocardiography follow up no increasing of the aortic root dilatation and the left ventricular enlargement is observed.

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