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.
Due to the proportionally high mortality rates associated with isolated tricuspid valve surgery, the invasive treatment of such pathology, historically, has been left largely unaddressed. Recently, there has been an appreciation for the mortality and morbidity of tricuspid valve disease, giving rise to the movement towards identifying less invasive, transcatheter approaches for treatment. Due to the technical complexity of these procedures along with the uniqueness and variability of tricuspid valve anatomy, a better appreciation of the tricuspid valve anatomy and pathology is required for pre-procedural planning. While two-dimensional echocardiography serves as the initial non-invasive modality for tricuspid valve evaluation, three-dimensional echocardiography provides a complete en face view of the tricuspid valve and surrounding structures, as well contributes further information regarding disease etiology and severity. In this review, we discuss the utility of three-dimensional echocardiography as a supplement to two-dimensional imaging to better assess tricuspid valve disease and anatomy to aide in future innovative therapies.
Background: Identification of aortic and mitral valve opening and closure timing is crucial for assessment of left ventricle (LV) function, e.g. pressure-volume loops. This is particularly problematic when simultaneous imaging (e.g. echocardiography) is not available. We hypothesize that LV pressure and its time derivatives can detect valve opening and closure times. Our aim was to determine the aortic and mitral valve opening and closures using properties of the LV pressure waveform. Methods: For this pilot study, in 3 human participants in sinus rhythm, LV pressures were recorded with a high-fidelity catheter. Echocardiographic 2D-guided M-mode images were obtained across the aortic and mitral valves in the parasternal long axis view. The timing of aortic and mitral valve events was linked to the ECG tracing, using the peak of the ECG R wave as the reference point. For each participant, two consecutive heartbeats were selected and the first (dP/dt), second (d 2 P/dt 2 ), and third derivatives (d 3 P/dt 3 ) of LV pressure calculated. Local maxima and minima from these were compared with the valve timing from M-mode. Results: The maximum of dP/dt at the beginning of the systolic phase occurred consistently with the opening of the aortic valve. Local minimum and maximum d 2 P/dt 2 occurred at the closure of the aortic valve and pre-atrial contraction timing, respectively. The early diastolic minimum of d 3 P/dt 3 and early systolic maximum of d 3 P/dt 3 coincided with M-mode mitral valve opening and closure timing, respectively. There was a strong correlation between the valve events timing that was measured using these two methods (R 2 =0.98, p<0.001). Conclusion: Aortic and mitral valve timing defined using LV pressure waveform agrees with valve opening/closure timing determined using echo M-mode as the gold standard. Determination of these valve timings is helpful for advanced analysis of LV mechanics when simultaneous echocardiography is not available.
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