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• W2891169599 abstract "Gender has been proposed to impact the phenotype and prognosis of hypertrophic cardiomyopathy (HC). Our aims were to study gender differences in the clinical presentation, phenotype, genotype, and outcome of HC. This retrospective single-center cohort study included 1,007 patients with HC (62% male, 80% genotyped) evaluated between 1977 and 2017. Hazard ratios (HR) were calculated using multivariable Cox proportional hazard regression models. At first evaluation, female patients presented more often with symptoms (43% vs 35%, p = 0.01), were older than male patients (56 ± 16 vs 49 ± 15 years, p <0.001), and more frequently had hypertension (38% vs 27%, p <0.001), left ventricular outflow tract obstruction (37% vs 27%, p <0.001), and impaired left ventricular systolic (17% vs 11%, p = 0.01) and diastolic (77% vs 62%, p <0.001) function. Overall, the genetic yield was similar between genders (54% vs 51%, p = 0.4); however, in patients ≥70 years, the genetic yield was less in women (15% vs 36%, p = 0.03). During 6.8-year follow-up (interquartile range 3.2 to 10.9), female gender was not independently associated with all-cause mortality (HR 1.25 [0.91 to 1.73]), cardiovascular mortality (HR 1.22 [0.83 to 1.79]), heart failure-related mortality (HR 1.77 [0.95 to 3.27]), or sudden cardiac death (SCD) and/or aborted SCD (HR 0.75 [0.44 to 1.30]). Interventions and nonfatal clinical events did not differ between the genders. In conclusion, female patients with HC present at a more advanced age with a different clinical, phenotypic, and genetic status. There is no independent association between female gender and all-cause mortality, cardiovascular mortality, heart failure-related mortality, or SCD. Gender has been proposed to impact the phenotype and prognosis of hypertrophic cardiomyopathy (HC). Our aims were to study gender differences in the clinical presentation, phenotype, genotype, and outcome of HC. This retrospective single-center cohort study included 1,007 patients with HC (62% male, 80% genotyped) evaluated between 1977 and 2017. Hazard ratios (HR) were calculated using multivariable Cox proportional hazard regression models. At first evaluation, female patients presented more often with symptoms (43% vs 35%, p = 0.01), were older than male patients (56 ± 16 vs 49 ± 15 years, p <0.001), and more frequently had hypertension (38% vs 27%, p <0.001), left ventricular outflow tract obstruction (37% vs 27%, p <0.001), and impaired left ventricular systolic (17% vs 11%, p = 0.01) and diastolic (77% vs 62%, p <0.001) function. Overall, the genetic yield was similar between genders (54% vs 51%, p = 0.4); however, in patients ≥70 years, the genetic yield was less in women (15% vs 36%, p = 0.03). During 6.8-year follow-up (interquartile range 3.2 to 10.9), female gender was not independently associated with all-cause mortality (HR 1.25 [0.91 to 1.73]), cardiovascular mortality (HR 1.22 [0.83 to 1.79]), heart failure-related mortality (HR 1.77 [0.95 to 3.27]), or sudden cardiac death (SCD) and/or aborted SCD (HR 0.75 [0.44 to 1.30]). Interventions and nonfatal clinical events did not differ between the genders. In conclusion, female patients with HC present at a more advanced age with a different clinical, phenotypic, and genetic status. There is no independent association between female gender and all-cause mortality, cardiovascular mortality, heart failure-related mortality, or SCD. Hypertrophic cardiomyopathy (HC) is a heterogeneous monogenic cardiac disease known to lead to sudden cardiac death (SCD), heart failure (HF), and atrial fibrillation with the increased risk of stroke.1Elliott P.M. Anastasakis A. Borger M.A. Borggrefe M. Cecchi F. Charron P. Hagege A.A. Lafont A. Limongelli G. Mahrholdt H. McKenna W.J. Mogensen J. Nihoyannopoulos P. Nistri S. Pieper P.G. Pieske B. Rapezzi C. Rutten F.H. Tillmanns C. Watkins H. Authors/Task Force Members2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).Eur Heart J. 2014; 35: 2733-2779Crossref PubMed Scopus (2121) Google Scholar, 2Maron B.J. Maron M.S. Hypertrophic cardiomyopathy.Lancet. 2013; 381: 242-255Abstract Full Text Full Text PDF PubMed Scopus (609) Google Scholar Gender has been proposed to impact the age of onset and the phenotype of HC.3Dimitrow P.P. Czarnecka D. Jaszcz K.K. Dubiel J.S. Sex differences in age at onset of symptoms in patients with hypertrophic cardiomyopathy.J Cardiovasc Risk. 1997; 4: 33-35Crossref PubMed Scopus (0) Google Scholar, 4Dimitrow P.P. Czarnecka D. Kawecka-Jaszcz K. Dubiel J.S. The influence of age on gender-specific differences in the left ventricular cavity size and contractility in patients with hypertrophic cardiomyopathy.Int J Cardiol. 2003; 88 (discussion 16-17): 11-16Abstract Full Text Full Text PDF PubMed Scopus (25) Google Scholar, 5Dimitrow P.P. Czarnecka D. Kawecka-Jaszcz K. Dubiel J.S. Sex-based comparison of survival in referred patients with hypertrophic cardiomyopathy.Am J Med. 2004; 117: 65-66Abstract Full Text Full Text PDF PubMed Scopus (9) Google Scholar, 6Dimitrow P.P. Czarnecka D. Strojny J.A. Kawecka-Jaszcz K. Dubiel J.S. Impact of gender on the left ventricular cavity size and contractility in patients with hypertrophic cardiomyopathy.Int J Cardiol. 2001; 77: 43-48Abstract Full Text Full Text PDF PubMed Scopus (20) Google Scholar, 7Bos J.M. Theis J.L. Tajik A.J. Gersh B.J. Ommen S.R. Ackerman M.J. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.Am Heart J. 2008; 155: 1128-1134Crossref PubMed Scopus (20) Google Scholar, 8Chen Y.Z. Qiao S.B. Hu F.H. Yuan J.S. Yang W.X. Cui J.G. Zhang Y. Zhang C.L. Left ventricular remodeling and fibrosis: sex differences and relationship with diastolic function in hypertrophic cardiomyopathy.Eur J Radiol. 2015; 84: 1487-1492Abstract Full Text Full Text PDF PubMed Scopus (17) Google Scholar, 9O'Mahony C. Elliott P. Affairs of the heart: outcomes in men and women with hypertrophic cardiomyopathy.Eur Heart J. 2017; 38: 3441-3443Google Scholar, 10Gimeno J.R. Tome-Esteban M. Lofiego C. Hurtado J. Pantazis A. Mist B. Lambiase P. McKenna W.J. Elliott P.M. Exercise-induced ventricular arrhythmias and risk of sudden cardiac death in patients with hypertrophic cardiomyopathy.Eur Heart J. 2009; 30: 2599-2605Crossref PubMed Scopus (115) Google Scholar, 11Kubo T. Kitaoka H. Okawa M. Hirota T. Hayato K. Yamasaki N. Matsumura Y. Yabe T. Doi Y.L. Gender-specific differences in the clinical features of hypertrophic cardiomyopathy in a community-based Japanese population: results from Kochi RYOMA study.J Cardiol. 2010; 56: 314-319Abstract Full Text Full Text PDF PubMed Scopus (43) Google Scholar, 12Lin C.L. Chiang C.W. Shaw C.K. Chu P.H. Chang C.J. Ko Y.L. Gender differences in the presentation of adult obstructive hypertrophic cardiomyopathy with resting gradient: a study of 122 patients.Jpn Circ J. 1999; 63: 859-864Crossref PubMed Scopus (17) Google Scholar, 13Maron B.J. Casey S.A. Hurrell D.G. Aeppli D.M. Relation of left ventricular thickness to age and gender in hypertrophic cardiomyopathy.Am J Cardiol. 2003; 91: 1195-1198Abstract Full Text Full Text PDF PubMed Scopus (47) Google Scholar, 14Schulz-Menger J. Abdel-Aty H. Rudolph A. Elgeti T. Messroghli D. Utz W. Boye P. Bohl S. Busjahn A. Hamm B. Dietz R. Gender-specific differences in left ventricular remodelling and fibrosis in hypertrophic cardiomyopathy: insights from cardiovascular magnetic resonance.Eur J Heart Fail. 2008; 10: 850-854Crossref PubMed Scopus (27) Google Scholar Studies that assessed gender and clinical outcome of HC report conflicting results.5Dimitrow P.P. Czarnecka D. Kawecka-Jaszcz K. Dubiel J.S. Sex-based comparison of survival in referred patients with hypertrophic cardiomyopathy.Am J Med. 2004; 117: 65-66Abstract Full Text Full Text PDF PubMed Scopus (9) Google Scholar,15Olivotto I. Maron M.S. Adabag A.S. Casey S.A. Vargiu D. Link M.S. Udelson J.E. Cecchi F. Maron B.J. Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy.J Am Coll Cardiol. 2005; 46: 480-487Crossref PubMed Scopus (223) Google Scholar, 16Wang Y. Wang J. Zou Y. Bao J. Sun K. Zhu L. Tian T. Shen H. Zhou X. Ahmad F. Hui R. Song L. Female sex is associated with worse prognosis in patients with hypertrophic cardiomyopathy in China.PLoS One. 2014; 9e102969Crossref PubMed Scopus (29) Google Scholar, 17Geske J.B. Ong K.C. Siontis K.C. Hebl V.B. Ackerman M.J. Hodge D.O. Miller V.M. Nishimura R.A. Oh J.K. Schaff H.V. Gersh B.J. Ommen S.R. Women with hypertrophic cardiomyopathy have worse survival.Eur Heart J. 2017; 38: 3434-3440Crossref PubMed Scopus (64) Google Scholar Some studies report an independent association between female gender and all-cause mortality16Wang Y. Wang J. Zou Y. Bao J. Sun K. Zhu L. Tian T. Shen H. Zhou X. Ahmad F. Hui R. Song L. Female sex is associated with worse prognosis in patients with hypertrophic cardiomyopathy in China.PLoS One. 2014; 9e102969Crossref PubMed Scopus (29) Google Scholar, 17Geske J.B. Ong K.C. Siontis K.C. Hebl V.B. Ackerman M.J. Hodge D.O. Miller V.M. Nishimura R.A. Oh J.K. Schaff H.V. Gersh B.J. Ommen S.R. Women with hypertrophic cardiomyopathy have worse survival.Eur Heart J. 2017; 38: 3434-3440Crossref PubMed Scopus (64) Google Scholar or HF-related events.15Olivotto I. Maron M.S. Adabag A.S. Casey S.A. Vargiu D. Link M.S. Udelson J.E. Cecchi F. Maron B.J. Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy.J Am Coll Cardiol. 2005; 46: 480-487Crossref PubMed Scopus (223) Google Scholar, 16Wang Y. Wang J. Zou Y. Bao J. Sun K. Zhu L. Tian T. Shen H. Zhou X. Ahmad F. Hui R. Song L. Female sex is associated with worse prognosis in patients with hypertrophic cardiomyopathy in China.PLoS One. 2014; 9e102969Crossref PubMed Scopus (29) Google Scholar,18Ho H.H. Lee K.L. Lau C.P. Tse H.F. Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathy.Am J Med. 2004; 116: 19-23Abstract Full Text Full Text PDF PubMed Scopus (39) Google Scholar, 19Terauchi Y. Kubo T. Baba Y. Hirota T. Tanioka K. Yamasaki N. Furuno T. Kitaoka H. Gender differences in the clinical features of hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.J Cardiol. 2015; 65: 423-428Abstract Full Text Full Text PDF PubMed Scopus (20) Google Scholar Genotype has been shown to impact the phenotypic expression and clinical outcome of HC.7Bos J.M. Theis J.L. Tajik A.J. Gersh B.J. Ommen S.R. Ackerman M.J. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.Am Heart J. 2008; 155: 1128-1134Crossref PubMed Scopus (20) Google Scholar,20van Velzen H.G. Vriesendorp P.A. Oldenburg R.A. van Slegtenhorst M.A. van der Velden J. Schinkel A.F. Michels M. Value of genetic testing for the prediction of long-term outcome in patients with hypertrophic cardiomyopathy.Am J Cardiol. 2016; 118: 881-887Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar, 21Olivotto I. Girolami F. Ackerman M.J. Nistri S. Bos J.M. Zachara E. Ommen S.R. Theis J.L. Vaubel R.A. Re F. Armentano C. Poggesi C. Torricelli F. Cecchi F. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.Mayo Clin Proc. 2008; 83: 630-638Abstract Full Text Full Text PDF PubMed Scopus (277) Google Scholar, 22Bos J.M. Will M.L. Gersh B.J. Kruisselbrink T.M. Ommen S.R. Ackerman M.J. Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.Mayo Clin Proc. 2014; 89: 727-737Abstract Full Text Full Text PDF PubMed Scopus (87) Google Scholar In the Netherlands, genetic counseling and testing is offered to all patients with HC, because it is covered by the national basic health-care program. The aim of this study was to assess gender-related differences in the genetic test results, clinical presentation, phenotype, and outcome of HC. This single-center retrospective cohort study included 1,007 patients with HC who were evaluated at the Erasmus Medical Center in Rotterdam, the Netherlands, between the years 1977 and 2017. The diagnosis of HC was based on a maximal wall thickness (MWT) ≥15 mm in probands, ≥13 mm in relatives, and a z-score >2 in children, not solely explained by loading conditions. Patients with HC caused by Anderson-Fabry disease, Danon disease, Noonan syndrome, amyloidosis, or other confirmed metabolic or mitochondrial disorders or malformation syndromes were excluded. The study conforms to the principles of the Declaration of Helsinki. All patients gave informed consent for inclusion in the registry and local institutional review board approval was obtained. Genetic counseling and testing was offered to all patients. Before the year 2012, genetic analysis consisted of direct sequencing of all coding exons and intron-exon boundaries of the following 8 genes: myosin-binding protein C (MYBPC3), ß-myosin heavy chain (MYH7), cardiac-regulatory myosin light chain (MYL2), cardiac troponin T (TNNT2), cardiac troponin I (TNNI3), cysteine- and glycine-rich protein 3 (CSRP3), titin-cap and/or telethonin (TCAP), and α-tropomyosin (TPM1). From the year 2012, a next-generation-sequencing targeted approach including 48 to 52 cardiomyopathy-associated genes was used. Classification of variants was done at time of initial testing. Variants were interpreted using a protocol adapted from the American College of Medical Genetics and Genomics recommendations,23Richards C.S. Bale S. Bellissimo D.B. Das S. Grody W.W. Hegde M.R. Lyon E. Ward B.E. Molecular Subcommittee of the ALQACACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007.Genet Med. 2008; 10: 294-300Crossref PubMed Scopus (554) Google Scholar and classified into 5 categories: (1) benign, (2) likely benign, (3) uncertain significance, (4) likely pathogenic, and (5) pathogenic. The potential pathogenicity of variants was assessed using Alamut Visual software (Interactive Biosoftware, Rouen, France), which integrates data from several large-scale population studies, evolutionary conservation of nucleotides and amino acids, in silico missense predictions (Align GVGD, SIFT, MutationTaster, and PolyPhen-2), and splicing prediction modules (SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, and Human Splicing Finder). The criteria for classification of variants included the allele frequency in the dbSNP/ESP/ExAC/GoNL (cutoff minor allele frequency 1% in at least 300 ethnically matched control alleles equals benign), predicted effects on splicing, the in silico prediction of effect on the protein, and previously described links to disease. Furthermore, segregation analysis in families with more affected patients and information considering presence in Human Gene Mutation Database (HGMD) Professional 2017.3 (Qiagen) is taken into account. Variant reclassifications during follow-up were registered, and variant classification as assessed at the end of follow-up was used for the analyses. Patients with a reclassified variant were informed about the reclassification and if applicable about the indication for renewed evaluation. Patients were considered genotype positive when the mutation was classified as likely pathogenic or pathogenic (classes IV and V). Clinical assessment included medical history, physical examination, electrocardiography, and transthoracic echocardiography. Echocardiographic studies were analyzed according to the guidelines.1Elliott P.M. Anastasakis A. Borger M.A. Borggrefe M. Cecchi F. Charron P. Hagege A.A. Lafont A. Limongelli G. Mahrholdt H. McKenna W.J. Mogensen J. Nihoyannopoulos P. Nistri S. Pieper P.G. Pieske B. Rapezzi C. Rutten F.H. Tillmanns C. Watkins H. Authors/Task Force Members2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).Eur Heart J. 2014; 35: 2733-2779Crossref PubMed Scopus (2121) Google Scholar, 24Gersh B.J. Maron B.J. Bonow R.O. Dearani J.A. Fifer M.A. Link M.S. Naidu S.S. Nishimura R.A. Ommen S.R. Rakowski H. Seidman C.E. Towbin J.A. Udelson J.E. Yancy CW American College of Cardiology Foundation/American Heart Association Task Force on Practice GuidelinesAmerican Association for Thoracic SurgeryAmerican Society of EchocardiographyAmerican Society of Nuclear CardiologyHeart Failure Society of AmericaHeart Rhythm SocietySociety for Cardiovascular Angiography and InterventionsSociety of Thoracic Surgeons2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.J Thorac Cardiovasc Surg. 2011; 142: e153-e203Abstract Full Text Full Text PDF PubMed Scopus (179) Google Scholar,25Lang R.M. Badano L.P. Mor-Avi V. Afilalo J. Armstrong A. Ernande L. Flachskampf F.A. Foster E. Goldstein S.A. Kuznetsova T. Lancellotti P. Muraru D. Picard M.H. Rietzschel E.R. Rudski L. Spencer K.T. Tsang W. Voigt J.U. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging.J Am Soc Echocardiogr. 2015; 28 (1-39.e14)Abstract Full Text Full Text PDF Scopus (4949) Google Scholar MWT, left atrial dimension, left ventricular (LV) end-diastolic diameter, and LV outflow tract velocity at rest were assessed.1Elliott P.M. Anastasakis A. Borger M.A. Borggrefe M. Cecchi F. Charron P. Hagege A.A. Lafont A. Limongelli G. Mahrholdt H. McKenna W.J. Mogensen J. Nihoyannopoulos P. Nistri S. Pieper P.G. Pieske B. Rapezzi C. Rutten F.H. Tillmanns C. Watkins H. Authors/Task Force Members2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).Eur Heart J. 2014; 35: 2733-2779Crossref PubMed Scopus (2121) Google Scholar, 24Gersh B.J. Maron B.J. Bonow R.O. Dearani J.A. Fifer M.A. Link M.S. Naidu S.S. Nishimura R.A. Ommen S.R. Rakowski H. Seidman C.E. Towbin J.A. Udelson J.E. Yancy CW American College of Cardiology Foundation/American Heart Association Task Force on Practice GuidelinesAmerican Association for Thoracic SurgeryAmerican Society of EchocardiographyAmerican Society of Nuclear CardiologyHeart Failure Society of AmericaHeart Rhythm SocietySociety for Cardiovascular Angiography and InterventionsSociety of Thoracic Surgeons2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.J Thorac Cardiovasc Surg. 2011; 142: e153-e203Abstract Full Text Full Text PDF PubMed Scopus (179) Google Scholar LV outflow tract gradient was calculated with the Bernoulli equation. LV systolic function was categorized as good (LV ejection fraction >51%), mildly reduced (LV ejection fraction 41% to 51%), moderately reduced (LV ejection fraction 30% to 40%), and poor (LV ejection fraction <30%).25Lang R.M. Badano L.P. Mor-Avi V. Afilalo J. Armstrong A. Ernande L. Flachskampf F.A. Foster E. Goldstein S.A. Kuznetsova T. Lancellotti P. Muraru D. Picard M.H. Rietzschel E.R. Rudski L. Spencer K.T. Tsang W. Voigt J.U. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging.J Am Soc Echocardiogr. 2015; 28 (1-39.e14)Abstract Full Text Full Text PDF Scopus (4949) Google Scholar LV diastolic function was defined as normal, abnormal relaxation, pseudonormal, or restrictive filling, based on Doppler mitral inflow pattern parameters including early (E) and late (A) LV filling velocities, E/A ratio, and tissue Doppler imaging-derived septal early diastolic velocities (e’).26Nagueh S.F. Smiseth O.A. Appleton C.P. Byrd 3rd, B.F. Dokainish H. Edvardsen T. Flachskampf F.A. Gillebert T.C. Klein A.L. Lancellotti P. Marino P. Oh J.K. Popescu B.A. Waggoner A.D. Recommendations for the evaluation of left ventricular diastolic function by echocardiography: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging.J Am Soc Echocardiogr. 2016; 29: 277-314Abstract Full Text Full Text PDF PubMed Scopus (1837) Google Scholar Body surface area was calculated with the Du Bois & Du Bois formula. Mortality data were retrieved from the civil service register in August 2017. Patients were followed for a median of 6.8 years (interquartile range 3.2 to 10.9; 7,363 total patient-years; 0.01% missing due to loss of follow-up). Patients who were lost to follow-up were censored at time of last follow-up. The cause of death was retrieved from the medical chart or the general practitioner and was obtained in 171 (87%) of mortality cases. Those with unknown causes of death were classified as all-cause mortality. Cardiovascular mortality included SCD and/or aborted SCD, HF-related death, postoperative death after a cardiac intervention, and stroke related death. SCD and/or aborted SCD was defined as: (1) instantaneous and unexpected death in patients who were previously in a stable clinical condition, or nocturnal death with no antecedent history of worsening symptoms; (2) resuscitation after cardiac arrest; or (3) appropriate implantable cardioverter defibrillator (ICD) intervention. Appropriate ICD intervention was defined as shock or antitachycardia pacing for ventricular fibrillation or ventricular tachycardia >200/min. Cardiac transplantation was considered HF-related mortality and patients were censored at the time of transplantation. The following nonfatal clinical events and interventions were registered: atrial fibrillation (paroxysmal, persistent, or permanent), stroke, transient ischemic attack, hospital admission for HF, septal reduction therapy (surgical myectomy and alcohol septal ablation), and ICD and pacemaker implantations. ICDs and pacemakers were implanted according to the guidelines.1Elliott P.M. Anastasakis A. Borger M.A. Borggrefe M. Cecchi F. Charron P. Hagege A.A. Lafont A. Limongelli G. Mahrholdt H. McKenna W.J. Mogensen J. Nihoyannopoulos P. Nistri S. Pieper P.G. Pieske B. Rapezzi C. Rutten F.H. Tillmanns C. Watkins H. Authors/Task Force Members2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).Eur Heart J. 2014; 35: 2733-2779Crossref PubMed Scopus (2121) Google Scholar, 24Gersh B.J. Maron B.J. Bonow R.O. Dearani J.A. Fifer M.A. Link M.S. Naidu S.S. Nishimura R.A. Ommen S.R. Rakowski H. Seidman C.E. Towbin J.A. Udelson J.E. Yancy CW American College of Cardiology Foundation/American Heart Association Task Force on Practice GuidelinesAmerican Association for Thoracic SurgeryAmerican Society of EchocardiographyAmerican Society of Nuclear CardiologyHeart Failure Society of AmericaHeart Rhythm SocietySociety for Cardiovascular Angiography and InterventionsSociety of Thoracic Surgeons2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.J Thorac Cardiovasc Surg. 2011; 142: e153-e203Abstract Full Text Full Text PDF PubMed Scopus (179) Google Scholar Calculations were performed using SPSS 21 (IBM, Armonk, New York) and R statistical software version 3.4.2 using packages nlme, lme4, survival, and smcfcs. Normally distributed continuous data are expressed as mean ± standard deviation and non-normally distributed data as median followed by interquartile range. To make comparisons between male and female patients, generalized linear mixed models were used, with random intercepts for family to account for family relatedness. Hazard ratios (HR) and 95% confidence intervals were calculated using univariable and multivariate Cox proportional hazard regression models with adjustment for family relatedness. For this purpose, the grouped jackknife method was used. Missing values of variables included in the multivariable analyses were imputed using 10 imputed datasets. All analyses were 2-tailed; p values <0.05 were considered significant. Baseline characteristics are presented in Table 1. Overall, there was a male predominance of 62%. The male predominance was present in all age groups, except in patients ≥70 years where women predominated (Figure 1). Male patients presented more often through routine medical examinations, and female patients presented more often with symptoms (Table 2). Female patients were significantly older than male patients both at time of diagnosis and at first evaluation (Table 1), also after excluding patients who presented through routine medical examinations (51 ± 18 vs 46 ± 17 years, p <0.001 and 55 ± 17 vs 49 ± 16 years, p <0.001, respectively). Female patients more frequently had a history of hypertension, and stroke and/or transient ischemic attack.Table 1Baseline characteristics of 1,007 patients with hypertrophic cardiomyopathy according to genderVariableOverall(n = 1007)Male(n = 620)Female(n = 387)p valueAge at evaluation (years)52 ± 1649 ± 1556 ± 16<0.001 <30102 (10%)68 (11%)34 (9%)0.26 30-50338 (34%)241 (39%) 97 (25%)<0.001 >50567 (56%)311 (50%)256 (66%)<0.001Age at diagnosis (years)46 ± 1744 ± 1650 ± 19<0.001BSA (mm/m2)1.94 ± 0.232.05 ± 0.171.80 ± 0.17<0.001Arterial hypertension310 (31%)164 (27%)146 (38%)<0.001Coronary artery disease62 (6%)43 (7%)19 (5%)0.21Atrial fibrillation213 (21%)123 (20%)90 (23%)0.41Septal reduction therapy51 (5%)30 (5%)21 (5%)0.67ICD/PM implantation47 (5%)24 (4%)23 (6%)0.14Stroke/TIA61 (6%)25 (4%)36 (9%)0.02HF admission24 (4%)11 (3%)13 (5%)0.17SCD/aborted SCD16 (2%)11 (2%)5 (1%)0.33Medication Beta blockers497 (49%)292 (47%)205 (53%)0.07 Other anti-arrhythmic*Includes flecainide, amiodarone, disopyramide, and ritmoforin.58 (6%)31 (5%)27 (7%)0.19 Calcium antagonists298 (30%)183 (30%)115 (30%)0.95 Statins196 (20%)110 (18%)86 (22%)0.08 Diuretics188 (19%)84 (14%)104 (27%)<0.001 Aspirin159 (16%)80 (13%)79 (20%)0.001 Oral anticoagulants†Includes 1 new oral anticoagulant.123 (12%)64 (10%)59 (15%)0.02 ACE-i124 (12%)72 (12%)52 (13%)0.39 ATIIA102 (10%)54 (9%)48 (12%)0.06 ACE-i/ATIIA222 (22%)123 (20%)99 (26%)0.03Genetic testing performed810 (80%)511 (82%)299 (77%)0.05 Pathogenic mutation430 (53%)277 (54%)153 (51%)0.39Echocardiography MWT (mm)19 ± 419 ± 418 ± 40.03 <13‡End-stage hypertrophic cardiomyopathy or postseptal reduction therapy.8 (1%)5 (1%)3 (1%)0.96 13-15208 (21%)108 (18%)100 (26%)0.001 16-19428 (43%)271 (45%)157 (41%)0.33 20-24253 (26%)167 (27%)86 (23%)0.09 25-2968 (7%)41 (7%)27 (7%)0.82 ≥3024 (2%)17 (3%)7 (2%)0.35 MWT/BSA (mm/m2)9.6 ± 2.39.2 ± 2.010.3 ± 2.6<0.001 LA (mm)45 ± 845 ± 844 ± 80.001 LA/BSA (mm/m2)23.2 ± 4.122.5 ± 3.924.5 ± 4.1<0.001 LVEDD (mm)46 ± 647 ± 644 ± 6<0.001 LVEDD/BSA (mm/m2)23.3 ± 3.422.7 ± 3.224.3 ± 3.5<0.001 LVOT ≥ 30 mmHg§At rest.300 (31%)160 (27%)140 (37%)<0.001 Diastolic function Normal285 (32%)206 (38%)79 (23%)<0.001 Impaired relaxation276 (31%)147 (27%)129 (38%)<0.001 Pseudonormal filling269 (30%)169 (31%)100 (30%)0.60 Restrictive filling55 (6%)25 (5%)30 (9%)0.01 Systolic function Good857 (87%)543 (89%)314 (83%)0.01 Mildly reduced95 (10%)51 (8%)44 (12%)0.10 Moderately reduced24 (2%)8 (1%)16 (4%)0.01 Severely reduced11 (1%)7 (1%)4 (1%)0.87Data are expressed as mean ± standard deviation or as absolute n (%). Generalized linear mixed models were used, with random intercepts for family to account for family relatedness.ACE-i = ACE inhibitor; ATIIA = angiotensin II antagonist; BSA = body surface area; HF = heart failure; ICD = implantable cardioverter defibrillator; LA = left atrial size; LVEDD = left ventricular end diastolic diameter; LVOT = left ventricular outflow tract gradient; MWT = maximal wall thickness; PM = pacemaker; SCD = sudden cardiac death; TIA = transient ischemic attack. Includes flecainide, amiodarone, disopyramide, and ritmoforin.† Includes 1 new oral anticoagulant.‡ End-stage hypertrophic cardiomyopathy or postseptal reduction therapy.§ At rest. Open table in a new tab Table 2Triggers for diagnosis in male and female patients with hypertrophic cardiomyopathyVariableOverall(n = 1007)Male(n = 620)Female(n = 387)p valuePrecordial murmur149 (18%)106 (20%)43 (14%)0.03Abnormal ECG111 (13%)76 (15%)35 (11%)0.20Other*During preoperative screening, prescan, cardiac echo for other cardiac diseases.33 (4%)20 (4%)13 (4%)0.75Chest pain145 (18%)88 (17%)57 (19%)0.52Dyspnea112 (14%)61 (12%)51 (16%)0.04Palpitations65 (8%)30 (6%)35 (12%)0.004Dizziness37 (5%)21 (4%)16 (5%)0.45Syncope39 (5%)29 (6%)10 (3%)0.14Fatigue65 (8%)27 (5%)38 (13%)<0.001Sudden cardiac death†Two sudden cardiac deaths were not successfully resuscitated.11 (1%)9 (2%)2 (1%)0.19Atrial fibrillation21 (3%)11 (2%)10 (3%)0.33Heart failure5 (0.6%)3 (0.6%)2 (0.7%)0.95Acute myocardial infarction11 (1%)7 (1%)4 (1%)0.99Stroke/TIA/embolism5 (0.6%)4 (0.8%)1 (0.3%)0.45HC family screening165 (20%)103 (20%)62 (20%)0.81Data are expressed as absolute n (%). Generalized linear mixed models were used, with random intercepts for family to account for family relatedness.ECG = electrocardiography; HC = hypertrophic cardiomyopathy; TIA = transient ischemic attack. During preoperative screening, prescan, cardiac echo for other cardiac diseases.† Two sudden cardiac deaths were not succe" @default.
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• W2891169599 date "2018-12-01" @default.
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• W2891169599 title "Effect of Gender and Genetic Mutations on Outcomes in Patients With Hypertrophic Cardiomyopathy" @default.
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