Nosology Spectrum of the Bicuspid Aortic Valve Condition

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Bicuspid Aortic Valve (BAV) with complex valvulo-aortopathy (n=1). Intervention: Genetic testing and urgent aortic root ascending hemiarch repair.

Q: What does this research mean for the field?

The nosology spectrum of bicuspid aortic valve disease presents heterogeneous phenotypes that inform risk stratification and clinical decision-making. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Héctor I. Michelena; Saarwaani Vallabhajosyula; Siddharth K. Prakash

doi:10.1161/circulationaha.120.046892

July 20, 2020CirculationOpen Access

Nosology Spectrum of the Bicuspid Aortic Valve Condition

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Key result

Genetic testing reveals TGFBR1 mutation in bicuspid aortic valve with root phenotype.

n=1

Key Points

To delineate the nosology spectrum of bicuspid aortic valve (BAV) valvulo-aortopathy and outline clinical indications for genetic testing and extrathoracic vascular evaluation.
Staged expert clinical evaluation and discussion of a 24-year-old male with BAV, chest pain, and subsequent neurological symptoms.
Review of multimodality imaging including transthoracic echocardiography, ECG-gated computed tomography angiogram (CTA), and brain magnetic resonance angiography.
Identified a pathogenic TGFBR1 variant in a patient presenting with an aortic root measuring 48 mm (dilating ~2 mm/year) and a 6-mm saccular intracranial aneurysm.
Reconciled the heterogeneous BAV condition into three categories: typical-presentation valvulo-aortopathy, complex-presentation valvulo-aortopathy, and uncomplicated or undiagnosed BAV.
Demonstrated that the presence of an aortic root phenotype combined with subtle connective tissue disease features in young patients warrants genetic screening regardless of classic syndromic presentations.

Study Design

Type

Case Report (n=1)

Structured PICO

P

Population

A 24-year-old man with a bicuspid aortic valve, progressive aortic root dilatation, and an intracranial aneurysm who was diagnosed with a TGFBR1 pathogenic variant.

I

Intervention

Genetic testing and urgent root ascending hemiarch repair

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Implication

Young patients with a bicuspid aortic valve and proximal thoracic aorta dilatation (root phenotype) may require genetic testing to identify underlying syndromic aortopathies like Loeys-Dietz syndrome, even in the absence of typical syndromic features.

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Cite This Study

Michelena et al. (2020) conducted a case report in Bicuspid Aortic Valve (BAV) with complex valvulo-aortopathy (n=1). Genetic testing and urgent aortic root ascending hemiarch repair was evaluated. Genetic testing in a 24-year-old man with bicuspid aortic valve and root phenotype revealed a TGFBR1 pathogenic variant, demonstrating the importance of genetic screening in complex presentations.

synapsesocial.com/papers/6aa6161e04b6164f168faa81 https://doi.org/10.1161/circulationaha.120.046892

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Nosology Spectrum of the Bicuspid Aortic Valve Condition

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Nosology Spectrum of the Bicuspid Aortic Valve Condition

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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