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Thin-filament mutations, hypertrophic cardiomyopathy, and risk [Comment]

Sherrid, Mark V; Arabadjian, Milla; Koulova, Anna
PMID: 25524338
ISSN: 1558-3597
CID: 1570852

Vector flow mapping in obstructive hypertrophic cardiomyopathy to assess the relationship of early systolic left ventricular flow and the mitral valve

Ro, Richard; Halpern, Dan; Sahn, David J; Homel, Peter; Arabadjian, Milla; Lopresto, Charles; Sherrid, Mark V
BACKGROUND: The hydrodynamic cause of systolic anterior motion of the mitral valve (SAM) is unresolved. OBJECTIVES: This study hypothesized that echocardiographic vector flow mapping, a new echocardiographic technique, would provide insights into the cause of early SAM in obstructive hypertrophic cardiomyopathy (HCM). METHODS: We analyzed the spatial relationship of left ventricular (LV) flow and the mitral valve leaflets (MVL) on 3-chamber vector flow mapping frames, and performed mitral valve measurements on 2-dimensional frames in patients with obstructive and nonobstructive HCM and in normal patients. RESULTS: We compared 82 patients (22 obstructive HCM, 23 nonobstructive HCM, and 37 normal) by measuring 164 LV pre- and post-SAM velocity vector flow maps, 82 maximum isovolumic vortices, and 328 2-dimensional frames. We observed color flow and velocity vector flow posterior to the MVL impacting them in the early systolic frames of 95% of obstructive HCM, 22% of nonobstructive HCM, and 11% of normal patients (p < 0.001). In both pre- and post-SAM frames, we measured a high angle of attack >60 degrees of local vector flow onto the posterior surface of the leaflets whether the flow was ejection (59%) or the early systolic isovolumic vortex (41%). Ricochet of vector flow, rebounding off the leaflet into the cul-de-sac, was noted in 82% of the obstructed HCM, 9% of nonobstructive HCM, and none (0%) of the control patients (p < 0.001). Flow velocities in the LV outflow tract on the pre-SAM frame 1 and 2 mm from the tip of the anterior leaflet were low: 39 and 43 cm/s, respectively. CONCLUSIONS: Early systolic flow impacts the posterior surfaces of protruding MVL initiating SAM in obstructive HCM.
PMID: 25440093
ISSN: 1558-3597
CID: 1570762

Personalized Treatment Strategies Effective in Hypertrophic Cardiomyopathy Do Not Rely on Genomics in 2022: A Different Tale of Precision Medicine [Letter]

Maron, Barry J; Maron, Martin S; Sherrid, Mark V; Ommen, Steve R; Rowin, Ethan J
PMID: 36114018
ISSN: 1879-1913
CID: 5336562

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

Maron, Barry J; Dearani, Joseph A; Smedira, Nicholas G; Schaff, Hartzell V; Wang, Shuiyun; Rastegar, Hassan; Ralph-Edwards, Anthony; Ferrazzi, Paolo; Swistel, Daniel; Shemin, Richard J; Quintana, Eduard; Bannon, Paul G; Shekar, Prem S; Desai, Milind; Roberts, William C; Lever, Harry M; Adler, Arnon; Rakowski, Harry; Spirito, Paolo; Nishimura, Rick A; Ommen, Steve R; Sherrid, Mark V; Rowin, Ethan J; Maron, Martin S
Surgical myectomy remains the time-honored primary treatment for hypertrophic cardiomyopathy patients with drug refractory limiting symptoms due to LV outflow obstruction. Based on >50 years experience, surgery reliably reverses disabling heart failure by permanently abolishing mechanical outflow impedance and mitral regurgitation, with normalization of LV pressures and preserved systolic function. A consortium of 10 international currently active myectomy centers report about 11,000 operations, increasing significantly in number over the most recent 15 years. Performed in experienced multidisciplinary institutions, perioperative mortality for myectomy has declined to 0.6%, becoming one of the safest currently performed open-heart procedures. Extended myectomy relieves symptoms in >90% of patients by ≥ 1 NYHA functional class, returning most to normal daily activity, and also with a long-term survival benefit; concomitant Cox-Maze procedure can reduce the number of atrial fibrillation episodes. Surgery, preferably performed in high volume clinical environments, continues to flourish as a guideline-based and preferred high benefit: low treatment risk option for adults and children with drug refractory disabling symptoms from obstruction, despite prior challenges: higher operative mortality/skepticism in 1960s/1970s; dual-chamber pacing in 1990s, alcohol ablation in 2000s, and now introduction of strong negative inotropic drugs potentially useful for symptom management.
PMID: 35965115
ISSN: 1879-1913
CID: 5299672

Quality of life and physical functioning in black and white adults with hypertrophic cardiomyopathy

Arabadjian, Milla; Yu, Gary; Vorderstrasse, Allison; Sherrid, Mark V; Dickson, Victoria Vaughan
BACKGROUND:Hypertrophic cardiomyopathy (HCM) is a common and clinically heterogeneous inherited cardiac disease. Quality of life (QOL) and physical functioning are important clinically but are underexplored in diverse populations with HCM. OBJECTIVES/OBJECTIVE:To examine predictors for and compare QOL and physical functioning in Black and White adults with HCM. METHODS:We analyzed a sub-sample from a longitudinal prospective study on HCM. Eligibility criteria included self-identified Black and White adults (≥18 years) with clinical HCM. QOL was measured with the Minnesota Living with Heart Failure Questionnaire (MLWHF);physical functioning included age-adjusted exercise capacity and NYHA class. Covariates included HCM structural characteristics and common comorbidities. We analyzed data from 434 individuals, 57 (13.1%) of whom self-identified as Black/African American. RESULTS:In this sample, the Black cohort had higher MLWHF scores, 31.2 (27.2) v. 23.9 (22.1), p=0.042, signifying worse QOL, but there were no intergroup differences when QOL was dichotomized. Mean metabolic equivalents (METs) on symptom-limited stress testing were similar, though the Black cohort was younger, 54.6 (13.4) v.62.5 (14.8) years, p=0.001. No one from the Black cohort achieved an "excellent-for-age" exercise capacity, and 64.1% had a "below-average-for-age" exercise capacity vs 47% in the White cohort, though this was not statistically significant, p=0.058. There was no difference between groups in advanced NYHA class. Female gender was associated with worse QOL and physical functioning irrespective of covariates. CONCLUSIONS:This study is a starting point that underscores the need for a more comprehensive examination of well-being and physical functioning in Black populations with HCM.
PMID: 35901604
ISSN: 1527-3288
CID: 5276812

Surgical Septal Myectomy and Alcohol Ablation: Not Equivalent in Efficacy or Survival [Comment]

Sherrid, Mark V; Massera, Daniele; Swistel, Daniel G
PMID: 35483752
ISSN: 1558-3597
CID: 5213622

Future Role of New Negative Inotropic Agents in the Era of Established Surgical Myectomy for Symptomatic Obstructive Hypertrophic Cardiomyopathy [Editorial]

Maron, Barry J; Maron, Martin S; Sherrid, Mark V; Rowin, Ethan J
PMID: 35502772
ISSN: 2047-9980
CID: 5216012

Subcutaneous Versus Transvenous Implantable Defibrillator in Patients with Hypertrophic Cardiomyopathy

Jankelson, Lior; Garber, Leonid; Sherrid, Mark; Massera, Daniele; Jones, Paul; Barbhaiya, Chirag; Holmes, Douglas; Knotts, Robert; Bernstein, Scott; Spinelli, Michael; Park, David; Aizer, Anthony; Chinitz, Larry
BACKGROUND:Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy. Implantable Cardioverter Defibrillator (ICD) is important for prevention of sudden cardiac death (SCD) in patients at high risk. In recent years the subcutaneous ICD (S-ICD) has emerged as a viable alternative to the transvenous ICD (TV-ICD). The S-ICD does not require intravascular access, but cannot provide antitachycardia pacing therapy (ATP). OBJECTIVE:To assess the real world incidence of ICD therapy in patients with HCM implanted with TV-ICD versus S-ICD. METHODS:We compared the incidence of ATP and shock therapies between all HCM patients with S-ICD and TV-ICD enrolled in the Boston Scientific ALTITUDE database. Cumulative Kaplan Meier incidence was used to compare therapy free survival and Cox proportional hazard ratios were calculated. We performed an unmatched as well as propensity match analysis. RESULTS:We included 2047 patients with TV-ICD and 626 patients with S-ICD followed for an average of 1650.5±1038.5 and 933.4±550.6 days, respectively. Patients with HCM and TV-ICD had significantly higher rate of device therapy as compared to those with S-ICD (32.7 vs. 14.5 therapies /100 patient year; p<0.001), driven by a high incidence of ATP therapy in the TV-ICD group which accounted for more than 67% of therapies delivered. Shock incidence was similar between groups, both in the general and in the matched cohorts. CONCLUSIONS:Patients with HCM and S-ICD had significantly lower therapy rate than patients with TV-ICD without difference in shock therapy, suggesting potentially unnecessary ATP therapy. Empiric ATP programing in patients with HCM may be unbeneficial.
PMID: 35038570
ISSN: 1556-3871
CID: 5131402

Mitral annular calcification in hypertrophic cardiomyopathy

Massera, Daniele; Xia, Yuhe; Li, Boyangzi; Riedy, Katherine; Swistel, Daniel G; Sherrid, Mark V
BACKGROUND:Changes in mitral valve anatomy contribute to left ventricular outflow tract obstruction (LVOTO) in hypertrophic cardiomyopathy (HCM). Mitral annular calcification (MAC) is common among patients with HCM but its implications are currently unknown. METHODS:We tested the hypothesis that echocardiographic MAC would be associated with anterior displacement of the mitral valve and LVOTO in a cohort of 304 patients with HCM aged ≥ 60 years (mean [SD] age 71.6 [7.7] years, 52% women). RESULTS:MAC was present in 141 (46%) patients. The mean (SD) MAC offset distance was 9.8 (4.8) mm. A higher proportion of those with MAC compared to those without MAC had SAM (84.2 vs. 63.8%, p < 0.001) and LVOTO (80.9 vs. 57.9%, p < 0.001). In patients with MAC, the septal-mitral valve distance was shorter compared to those without (19.4 [4.0] vs 21.5 [4.9] mm, p < 0.001). The mitral valve position ratio was greater in those with MAC compared to those without (1.00 [0.79, 1.22] vs. 0.86 [0.67, 1.05], p < 0.001) denoting greater anterior displacement, especially in those with MAC and LVOTO. After multivariable adjustment, MAC offset distance was associated with LVOTO (OR 1.16 [95% CI 1.07, 1.28] per mm, p = 0.001). Over a median follow-up of 2.7 years, 42 (29.8%) patients with MAC underwent surgery to relieve LVOTO, with no deaths. CONCLUSION/CONCLUSIONS:This study adds MAC to the known geometrical alterations of the mitral valve that predispose to LVOTO and suggests that surgical relief of LVOTO in the presence of MAC is safe when performed by an experienced surgeon.
PMID: 34848211
ISSN: 1874-1754
CID: 5065612

Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review

Maron, Barry J; Desai, Milind Y; Nishimura, Rick A; Spirito, Paolo; Rakowski, Harry; Towbin, Jeffrey A; Rowin, Ethan J; Maron, Martin S; Sherrid, Mark V
Hypertrophic cardiomyopathy (HCM) is a relatively common often inherited global heart disease, with complex phenotypic and genetic expression and natural history, affecting both genders and many races and cultures. Prevalence is 1:200-1:500, largely based on the disease phenotype with imaging, inferring that 750,000 Americans may be affected by HCM. However, cross-sectional data show that only a fraction are clinically diagnosed, suggesting under-recognition, with most clinicians exposed to small segments of the broad disease spectrum. Highly effective HCM management strategies have emerged, altering clinical course and substantially lowering mortality and morbidity rates. These advances underscore the importance of reliable HCM diagnosis with echocardiography and cardiac magnetic resonance. Family screening with noninvasive imaging will identify relatives with the HCM phenotype, while genetic analysis recognizes preclinical sarcomere gene carriers without left ventricular hypertrophy, but with the potential to transmit disease. Comprehensive initial patient evaluations are important for reliable diagnosis, accurate portrayal of HCM and family history, risk stratification, and distinguishing obstructive versus nonobstructive forms.
PMID: 35086660
ISSN: 1558-3597
CID: 5147572