Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review

Iqbal, Rizwan; Alom, Samiha; BinSaeid, Jalal; Harky, Amer

doi:10.1177/1708538120934582

Cited by 15 publications

(9 citation statements)

References 59 publications

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“…This potentiates extra-cellular membrane degradation and increases susceptibility to aortic dilatation and dissection, as well as other clinical features found in LDS. 3 …”

Section: Discussionmentioning

confidence: 99%

Coronary artery aneurysm in Loeys-Dietz syndrome: a case report

Jost

Sang

Lertwilaiwittaya

et al. 2022

European Heart Journal - Case Reports

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Background Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly presents with vascular abnormalities. Due to the rarity and severity of the condition, consensus guidelines for aortic surgery thresholds vary. Additionally, evaluation of coronary arteries in patients with LDS (either routinely or prior to aortic root surgery) remain undefined. In this case report, we discuss a patient with LDS found to have an ectatic aortic root and a coronary artery aneurysm and discuss guidelines for evaluation and management in this patient population. Case Summary A 48-year-old female was incidentally found to have a 45 mm ectatic aortic root during evaluation for a neck mass. As part of pre-operative evaluation for aortic root replacement, left heart catheterization revealed a left main coronary artery aneurysm. Family history revealed aortic aneurysms, sudden cardiac death, and tall height. Physical exam was notable for pectus excavatum and elongated limbs. Workup for inflammatory etiologies of aortic root dilation was negative. Genetic testing revealed a heterozygous pathogenic TGBF3 variant, consistent with LDS type 5. She subsequently underwent 2-vessel coronary artery bypass, excision of her left main coronary artery aneurysm, and ascending aortic replacement. Discussion In this case, we describe a patient with LDS who was noted to have a coronary artery aneurysm, a rare finding in the initial presentation of disease. Additionally, we examine guidelines regarding evaluation of management of aortic root disease and coronary aneurysms.

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“…This potentiates extra-cellular membrane degradation and increases susceptibility to aortic dilatation and dissection, as well as other clinical features found in LDS. 3 …”

Section: Discussionmentioning

confidence: 99%

Coronary artery aneurysm in Loeys-Dietz syndrome: a case report

Jost

Sang

Lertwilaiwittaya

et al. 2022

European Heart Journal - Case Reports

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“…As a consequence, the aorta exhibits progressively lower ability to stretch and recoil and increased wall stiffness and dilatation ( 63 ). Presenting similar manifestations as MFS, LDS is linked to heterozygous mutations of the TGF-β receptors I & II (TGF-βR1 and TGF-βR2), suggesting non-involvement of TGF-β1 early signaling ( 64 ). Cystic medial degeneration in absence of overt connective-tissue disorders, now referred as familial TAA syndrome, is caused mostly through defect in ACTA2 gene which encodes smooth muscle α2 actin.…”

Section: Ecm Degradation and Remodelingmentioning

confidence: 99%

Stem Cell Based Approaches to Modulate the Matrix Milieu in Vascular Disorders

Sajeesh

Dahal

Bastola

et al. 2022

Front. Cardiovasc. Med.

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The extracellular matrix (ECM) represents a complex and dynamic framework for cells, characterized by tissue-specific biophysical, mechanical, and biochemical properties. ECM components in vascular tissues provide structural support to vascular cells and modulate their function through interaction with specific cell-surface receptors. ECM–cell interactions, together with neurotransmitters, cytokines, hormones and mechanical forces imposed by blood flow, modulate the structural organization of the vascular wall. Changes in the ECM microenvironment, as in post-injury degradation or remodeling, lead to both altered tissue function and exacerbation of vascular pathologies. Regeneration and repair of the ECM are thus critical toward reinstating vascular homeostasis. The self-renewal and transdifferentiating potential of stem cells (SCs) into other cell lineages represents a potentially useful approach in regenerative medicine, and SC-based approaches hold great promise in the development of novel therapeutics toward ECM repair. Certain adult SCs, including mesenchymal stem cells (MSCs), possess a broader plasticity and differentiation potential, and thus represent a viable option for SC-based therapeutics. However, there are significant challenges to SC therapies including, but not limited to cell processing and scaleup, quality control, phenotypic integrity in a disease milieu in vivo, and inefficient delivery to the site of tissue injury. SC-derived or -inspired strategies as a putative surrogate for conventional cell therapy are thus gaining momentum. In this article, we review current knowledge on the patho-mechanistic roles of ECM components in common vascular disorders and the prospects of developing adult SC based/inspired therapies to modulate the vascular tissue environment and reinstate vessel homeostasis in these disorders.

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“…Наиболее тяжелыми сердечно-сосудистыми проявлениями синдрома Loeys -Dietz являются артериальные васкулопатии, расширение (или аневризма) корня аорты на уровне синусов Вальсальвы, распространяющееся на восходящую аорту, и извитость артериальных сосудов (преимущественно головы и шеи) с образованием аневризм, аневризмы коронарных артерий. К другим признакам синдрома Loeys -Dietz относятся врожденные пороки сердца (открытый артериальный проток, двустворчатый аортальный клапан, дефект межпредсердной перегородки и ПМК) [21,22].…”

Section: синдром Loeys -Dietzunclassified

Mitral Valve Prolapse and Non-Syndromic and Syndromic Variety

Трисветова¹

2022

Кардиология В Беларуси

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Клиническое значение определяемого при эхокардиографическом исследовании пролапса митрального клапана нередко переоценивают или недооценивают. В настоящее время различают несиндромный, или первичный, пролапс митрального клапана, синдромный – при генетических синдромах (Марфана, Элерса – Данло и др.), при болезнях миокарда (миокардиты, кардиомиопатии и др.) и как проявление малых аномалий сердца. В каждом случае пролапса митрального клапана, выявленного при эхокардиографическом исследовании, необходимо определять системные проявления нарушений соединительной ткани, ассоциированные состояния и прогноз. Для выявления возможных генетических синдромов необходимо ориентироваться на разработанные диагностические критерии, при заболеваниях миокарда – диагностировать основное заболевание, сопровождающееся прогибанием створок митрального клапана. В случае отсутствия признаков несиндромного (первичного) пролапса митрального клапана, конкретного генетического синдрома или заболевания миокарда пролапс митрального клапана рассматривают как малую аномалию сердца. The clinical significance of mitral valve prolapse detected by echocardiography is often overestimated or underestimated. Currently, there are non-syndromic or primary mitral valve prolapse, syndromic – with genetic syndromes (Marfan, Ehlers – Danlo, etc.), with myocardial diseases (myocarditis, cardiomyopathy, etc.) and as a manifestation of minor heart anomalies. In each case of mitral valve prolapse detected by echocardiography, it is necessary to determine the systemic manifestations of connective tissue disorders, associated conditions and prognosis. To identify possible genetic syndromes, it is necessary to focus on the developed diagnostic criteria; in case of myocardial diseases, it is necessary to diagnose the underlying disease, accompanied by deflection of the mitral valve cusps. In the absence of evidence of non-syndromic (primary) mitral valve prolapse, a specific genetic syndrome, or myocardial disease, mitral valve prolapse is considered a minor cardiac anomaly.

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Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review

Cited by 15 publications

References 59 publications

Coronary artery aneurysm in Loeys-Dietz syndrome: a case report

Coronary artery aneurysm in Loeys-Dietz syndrome: a case report

Stem Cell Based Approaches to Modulate the Matrix Milieu in Vascular Disorders

Mitral Valve Prolapse and Non-Syndromic and Syndromic Variety

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