Aortopathies: Etiologies, Genetics, Differential Diagnosis, Prognosis and Management

Paterick, Timothy E.; Humphries, Julie; Ammar, Khawaja Afzal; Jan, M. Fuad; Loberg, Rachel; Bush, Michelle; Khandheria, Bijoy K.; Tajik, A. Jamil

doi:10.1016/j.amjmed.2013.01.029

Cited by 67 publications

(43 citation statements)

References 56 publications

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“…Until now, the only prevention resides in identifying aortas that are at risk for dissection by virtue of aneurysmal dilation and pursuing prophylactic surgical replacement. Although hypertension and specific genetic syndromes predispose to aortic aneurysm and dissection [5,6,7], it is difficult to predict aortic dissection with accuracy. Current recommendations are based on expert opinion and retrospective data and suggest that the ascending aorta should be replaced at 5.5 cm for the general population [7].…”

Section: Introductionmentioning

confidence: 99%

Aortic Size Distribution in the General Population: Explaining the Size Paradox in Aortic Dissection

Paruchuri¹,

Salhab

Kuzmik³

et al. 2015

Cardiology

101

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Background: Current guidelines recommend a diameter of 5-5.5 cm as the threshold for surgery on the ascending aorta. However, a study from the International Registry of Acute Aortic Dissection showed that nearly 60% occurred at <5.5 cm (the ‘aortic size paradox') - leading to a debate whether the size threshold should be lowered. However, the study showing dissection at small size had no knowledge of the population at risk. Herein, we aim to calculate the relative risk of aortic dissection at sizes <5.5 cm by analyzing both the number of occurring dissections (numerator) and the population at risk at each aortic size (denominator). Methods: Using a publicly available database of 3,573 multiethnic subjects (46% male, mean age 60.7 years) from the general population, we plotted a distribution curve of ascending aortic size (by magnetic resonance imaging). The relative risk of aortic dissection was calculated by dividing the proportion of dissections occurring at each size (numerator) by the proportion of aortas of that same size in the general population (denominator). Results: The mean ascending aortic diameter of the reference population was 3.2 cm (±0.4 cm). The largest diameter was 4.9 cm in women and 5.0 cm in men. The proportion of subjects with an aorta <3.5 cm was 79.2%, that of subjects with 3.5-3.9 cm was 18.0%, that of subjects with 4.0-4.4 cm was 2.6%, and that of subjects with ≥4.5 cm was 0.22%. The relative risk of dissection in those categories was found to be 0.055, 2.5, 4.9, and 346.8, respectively. Patients with an aorta ≥4.5 cm were 6,305 times more likely to suffer aortic dissection than those with an aorta <3.5 cm. Conclusions: The normal aorta is deceptively small, most commonly <3.5 cm. The aortic size paradox is a byproduct of the very large number of patients in small size ranges. This study fully supports current recommendations for surgical intervention at 5-5.5 cm.

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Section: Introductionmentioning

confidence: 99%

Aortic Size Distribution in the General Population: Explaining the Size Paradox in Aortic Dissection

Paruchuri¹,

Salhab

Kuzmik³

et al. 2015

Cardiology

101

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“…Congenital cardiovascular defects in TS are associated mainly with left-sided malformations (Table I). Elongated transverse arch of the aorta (ETA) is seen in 50% of women with TS, and bicuspid aortic valves (BAV) in 13-43%, versus 1-2% in the general population [13,25] and coarctation of the aorta (CoA) in 4-18% in those with TS [7,11,13].…”

Section: Cardiovascular Phenotype In Turner Syndromementioning

confidence: 99%

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta. Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed. StreszczenieZespół Turnera jest rzadko spotykanym schorzeniem o podłożu genetycznym u kobiet, u których występują między innymi zaburzenia wzrastania, płodności oraz zaburzenia w rozwoju układu sercowo-naczyniowego. Obecnie uważa się, że zespół Turnera jest niezależnym czynnikiem ryzyka rozwoju chorób układu sercowo-naczyniowego. Pomimo istotnego ryzyka rozwoju powikłań, które mogą nawet zagrażać życiu młodych pacjentek, wiele z nich odsyłanych jest do domu bez pogłębionej diagnostyki w kierunku zaburzeń w układzie sercowo-naczyniowym. Należy zauważyć, że chociaż wymiary aorty wstępującej są u wielu pacjentek obarczonych zespołem Turnera prawidłowe, to po uwzględnieniu rzeczywistych wymiarów ciała pacjentki można stwierdzić, że u części z nich aorta jest poszerzona. Opublikowane ostatnio wyniki badań oraz zalecenia kliniczne wskazują na przydatność rezonansu magnetycznego (MRI, magnetic resonance imaging) w diagnostyce zmian organicznych aorty. W publikacji omówiono także nowe możliwości terapeutyczne w przypadku występowania zmian w aorcie, co mogłoby usprawnić leczenie pacjentek z zespołem Turnera. W dziedzinie diagnostyki i leczenia tego zaburzenia genetycznego istnieje jednak nadal wiele nierozwiązanych zagadnień, dlatego też konieczne jest prowadzenie dalszych badań, także o charakterze prospektywnym. Epidemiology, diagnosis and genetics of Turner syndromeTurner syndrome (TS) is a rare congenital disorder caused by sex chromosome haploinsufficiency in a phenotypic female, associated with characteristic clinical features: short stature, primary amenorrhoea and cardiovascular pathology [1,2].The prevalence of TS is 50 per 100,000 live born females in Caucasian populations [2,7]. Prenatal prevalence is much higher than the postnatal, because of the frequent intrauterine mortality [1,37]. If TS is suspected in the intrauterine period, postnatal confirmation must be done [3]. Postnatal diagnosis requires a standard 30-cell karyotype which identifies at least 10% mosaicism with 95% confidence [5,6]. Specific clini...

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“…12,13,14 Finally, whereas this latter group shares $1 clinical features with Marfan syndrome, patients may differ in their clinical evolution and prognosis, showing a low risk of aortic/coronary dilation or dissection. 6,7 In summary, the diagnosis of Marfan syndrome may be hindered, particularly in children, and therefore chest pain may be considered a warning sign in this population.…”

Section: Discussionmentioning

confidence: 99%

“…5,6 Progressive dilatation of the aortic root with increased risk of aortic/coronary dissection represents the most severe clinical problem for many patients. 6,7 Knowing whether a certain patient will develop this complication remains a challenge for several reasons. First, because of the evolving nature of some clinical manifestations of Marfan syndrome, classic signs are rarely present in younger children and usually appear as the disease progresses over time.…”

Section: Discussionmentioning

confidence: 99%

Chest Pain in Children With Suspected Type I Fibrillinopathy: A Case Report

et al. 2015

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Chest pain is the second most common reason for referral to a pediatric cardiologist, because cardiovascular-related disorders are a major concern for children and their families when seeking medical attention. On the rare occasions when pediatric chest pain is a result of severe heart disease, it is usually associated with well-known cardiovascular risk factors such as fibrillinopathies. Type 1 fibrillinopathies are heritable disorders caused by mutations in the fibrillin genes that lead to a broad spectrum of connective tissue phenotypes ranging from Marfan syndrome, at the most severe end, to patients displaying mild marfanoid features, or milder Marfan (MM). We report the case of an adolescent patient with MM and suspected acute coronary syndrome, with chest pain and electrocardiographic changes suggestive of myocardial ischemia. Despite the low risk of coronary or aortic dissection/aneurysm in MM, these possibilities should be tested. Once they are ruled out, mitral valve prolapse should be considered as the main cause of chest pain with ischemic-like changes in the inferior electrocardiogram leads. We emphasize that clinical and echocardiographic follow-up over years is warranted in the pediatric population to ensure that the aortic root does not show progressive dilatation or a tendency to dissect. Finally, genotyping is clinically indicated for early and complete diagnosis in patients with MM as well as de novo Marfan syndrome to take advantage of educational and clinical programs for young carriers of the mutation.

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Aortopathies: Etiologies, Genetics, Differential Diagnosis, Prognosis and Management

Cited by 67 publications

References 56 publications

Aortic Size Distribution in the General Population: Explaining the Size Paradox in Aortic Dissection

Aortic Size Distribution in the General Population: Explaining the Size Paradox in Aortic Dissection

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Chest Pain in Children With Suspected Type I Fibrillinopathy: A Case Report

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