Congenital Muscular Mitral-Aortic Discontinuity Identified in Patients With Obstructive Hypertrophic Cardiomyopathy

Ferrazzi, Paolo; Spirito, Paolo; Binaco, Irene; Zyrianov, Aleksei; Poggio, Daniele; Vaccari, Giuseppe; Grillo, Massimiliano; Pezzoli, Laura; Scatigno, Agnese; Dorobantu, Lucian; Mortara, Andrea; Bruzzi, Paolo; Boni, Luca; Iascone, Maria

doi:10.1016/j.jacc.2020.09.534

Cited by 17 publications

(7 citation statements)

References 25 publications

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“…Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in genes encoding sarcomeric or sarcomere-associated proteins [ 1 ]. Left-ventricular hypertrophy (LVH) in HCM develops through complex mechanisms involving contractile dysfunction of both atria and ventricles due to impaired actin–myosin interaction [ 2 , 3 ], while, in arterial hypertension (HTN), LVH is related to increased pressure afterload [ 4 ]. The clinical phenotype differentiation of the two diseases is frequently challenging, mainly because the penetrance of LVH in HCM is age-dependent, and the prevalence of HTN also increases gradually with age.…”

Section: Introductionmentioning

confidence: 99%

The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypertrophy

et al. 2021

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Hypertrophic cardiomyopathy (HCM) and arterial hypertension (HTN) are conditions with different pathophysiology, but both can result in left-ventricular hypertrophy (LVH). The role of left-atrial (LA) functional changes detected by two-dimensional speckle-tracking echocardiography (STE) in indicating LVH etiology is unknown. Methods: We aimed to characterize LA mechanics using STE in LVH patients with HCM and HTN. LA 2D volumetric and STE parameters were analyzed in 86 LVH patients (43 HCM and 43 isolated HTN subjects) and 33 age- and sex-matched controls. Results: The volumetric study showed that LA reservoir and conduit function were impaired in the HCM group compared to controls, while, in the HTN group, only LA conduit function was deteriorated. The HCM group had all three STE-derived LA functions impaired compared to controls. The HTN group, consistently with volumetric analysis, had solely LA conduit function reduced compared to controls. Ratios of LA booster-pump strain (S) and strain rate (SR) to interventricular septum (IVS) thickness were the most accurate parameters to discriminate between HCM and HTN. The subgroup harboring sarcomeric pathogenic (P)/likely pathogenic (LP) variants had reduced LA booster-pump S and SR compared with the genotype-negative subgroup. Conclusions: LA reservoir, conduit, and pump functions are decreased in HCM compared to HTN patients with similar LVH. We report the ratios between LA contraction S/SR and IVS thickness as novel parameters with high accuracy in discriminating LVH due to HCM. The presence of P/LP variants in sarcomeric or sarcomeric-associated genes could be associated with more severe LA dysfunction.

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Section: Introductionmentioning

confidence: 99%

The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypertrophy

et al. 2021

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“…Congenital muscular mitral-aortic discontinuation, a muscular band interposed between the anterior mitral valve leaflet and the left and noncoronary aortic cusps, is relatively commonly detected in HCM patients referred for surgical SRT [27]. Ferrazzi et al identified muscular mitral-aortic discontinuation in a quarter of the 106 patients referred for myectomy at a single centre in Italy, significantly more common in younger patients.…”

Section: Other Mitral Valve Abnormalitiesmentioning

confidence: 99%

The mitral valve in hypertrophic cardiomyopathy

Malcolmson

Shipolini

Mohiddin

et al. 2023

Current Opinion in Cardiology

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Purpose of review Whilst abnormally increased left ventricular wall thickness is the hallmark feature of hypertrophic cardiomyopathy (HCM), anomalies of the mitral valve and supporting apparatus are well documented. This review addresses the clinical importance of mitral valve abnormalities in HCM, their mechanistic associations with symptoms, and therapeutic strategies targeting mitral valve and apparatus abnormalities. Recent findings The normal mitral valve possesses anatomical features facilitating unrestricted blood flow during LV filling, preventing regurgitation during LV systole, and avoiding obstruction of LV ejection. In HCM, a variety of structural and functional abnormalities can conspire to cause deranged mitral valve function, with implications for management strategy. Identification and characterization of these abnormalities is facilitated by multimodality imaging. Alcohol septal ablation (ASA) cannot address primary mitral valve abnormalities, and so is not preferred to surgical intervention if mitral valve abnormalities are present and are judged to make dominant contributions to LV outflow tract obstruction (LVOTO). Two broadly opposing surgical intervention strategies exist, one advocating isolated septal myectomy and the other including adjuvant mitral apparatus modification. Newer, less invasive surgical and transcatheter techniques will expand interventional options. Summary Mitral valve abnormalities are a central pathological feature of HCM. Multimodality imaging is crucial for their identification and characterization prior to therapeutic intervention.

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“…Recently, a shift of the anterior mitral leaflet toward the distal LV has been identified as a consequence of post-natal persistence of muscular mitralaortic discontinuity, potentially contributing to outflow gradients. 53…”

Section: Pathophysiology and Mechanisms Of Obstructionmentioning

confidence: 99%

Ventricular Septal Myectomy for Obstructive Hypertrophic Cardiomyopathy (Analysis Spanning 60 Years Of Practice): AJC Expert Panel

Maron

Dearani

Smedira

et al. 2022

The American Journal of Cardiology

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Congenital Muscular Mitral-Aortic Discontinuity Identified in Patients With Obstructive Hypertrophic Cardiomyopathy

Cited by 17 publications

References 25 publications

The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypertrophy

The Role of Left-Atrial Mechanics Assessed by Two-Dimensional Speckle-Tracking Echocardiography to Differentiate Hypertrophic Cardiomyopathy from Hypertensive Left-Ventricular Hypertrophy

The mitral valve in hypertrophic cardiomyopathy

Ventricular Septal Myectomy for Obstructive Hypertrophic Cardiomyopathy (Analysis Spanning 60 Years Of Practice): AJC Expert Panel

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