{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T20:11:50Z","timestamp":1793391110767,"version":"4.5.0"},"reference-count":34,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"15","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2021,8,3]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments. We hypothesized that impaired MBF and myocardial perfusion reserve, quantified using perfusion mapping cardiac magnetic resonance, might occur in the absence of overt left ventricular hypertrophy (LVH) and late gadolinium enhancement, in mutation carriers without LVH criteria for HCM (genotype\u2010positive, left ventricular hypertrophy\u2010negative).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              A single center, case\u2010control study investigated MBF and myocardial perfusion reserve (the ratio of MBF at stress:rest), along with other pre\u2010phenotypic features of HCM. Individuals with genotype\u2010positive, left ventricular hypertrophy\u2010negative (n=50) with likely pathogenic\/pathogenic variants and no evidence of LVH, and matched controls (n=28) underwent cardiac magnetic resonance. Cardiac magnetic resonance identified LVH\u2010fulfilling criteria for HCM in 5 patients who were excluded. Individuals with genotype\u2010positive, left ventricular hypertrophy\u2010negative had longer indexed anterior mitral valve leaflet length (12.52\u00b12.1 versus 11.55\u00b11.6\u00a0mm\/m\n              <jats:sup>2<\/jats:sup>\n              ,\n              <jats:italic>P<\/jats:italic>\n              =0.03), lower left ventricular end\u2010systolic volume (21.0\u00b16.9 versus 26.7\u00b16.2\u00a0mm\/m\n              <jats:sup>2<\/jats:sup>\n              ,\n              <jats:italic>P<\/jats:italic>\n              \u22640.005) and higher left ventricular ejection fraction (71.9\u00b15.5 versus 65.8\u00b14.4%,\n              <jats:italic>P\u2264<\/jats:italic>\n              0.005). Maximum wall thickness was not significantly different (9.03\u00b11.95 versus 8.37\u00b11.2\u00a0mm,\n              <jats:italic>P<\/jats:italic>\n              =0.075), and no subject had significant late gadolinium enhancement (minor right ventricle\u2012insertion point late gadolinium enhancement only). Perfusion mapping demonstrated visual perfusion defects in 9 (20%) carriers versus 0 controls (\n              <jats:italic>P<\/jats:italic>\n              =0.011). These were almost all septal or near right ventricle insertion points. Globally, myocardial perfusion reserve was lower in carriers (2.77\u00b10.83 versus 3.24\u00b10.63,\n              <jats:italic>P<\/jats:italic>\n              =0.009), with a subendocardial:subepicardial myocardial perfusion reserve gradient (2.55\u00b10.75 versus 3.2\u00b10.65,\n              <jats:italic>P<\/jats:italic>\n              =&lt;0.005; 3.01\u00b10.96 versus 3.47\u00b10.75,\n              <jats:italic>P<\/jats:italic>\n              =0.026) but equivalent MBF (2.75\u00b10.82 versus 2.65\u00b10.69\u00a0mL\/g per min,\n              <jats:italic>P<\/jats:italic>\n              =0.826).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">Regional and global impaired myocardial perfusion can occur in HCM mutation carriers, in the absence of significant hypertrophy or scarring.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.120.020227","type":"journal-article","created":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T16:14:54Z","timestamp":1627316094000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":46,"title":["Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers"],"prefix":"10.1161","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2110-5234","authenticated-orcid":false,"given":"Rebecca K.","family":"Hughes","sequence":"first","affiliation":[{"name":"Institute of Cardiovascular ScienceUniversity College London London UK"},{"name":"Barts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew\u2019s Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Camaioni","sequence":"additional","affiliation":[{"name":"Barts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew\u2019s Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0040-5270","authenticated-orcid":false,"given":"Jo\u00e3o B.","family":"Augusto","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular ScienceUniversity College London London UK"},{"name":"Barts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew\u2019s Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1611-817X","authenticated-orcid":false,"given":"Kristopher","family":"Knott","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular ScienceUniversity College London London UK"},{"name":"Barts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew\u2019s Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3648-6084","authenticated-orcid":false,"given":"Ellie","family":"Quinn","sequence":"additional","affiliation":[{"name":"Barts Heart CentreThe Cardiovascular Magnetic Resonance Imaging Unit and The Inherited Cardiovascular Diseases UnitSt Bartholomew\u2019s Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5662-0642","authenticated-orcid":false,"given":"Gabriella","family":"Captur","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular ScienceUniversity College London London UK"},{"name":"Department of Cardiology Inherited Heart Muscle Conditions ClinicRoyal Free HospitalNHS Trust London UK"},{"name":"University College London MRC Unit of Lifelong Health and Ageing London 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Variation across 141,456 human exomes and genomes reveals the spectrum of loss\u2010of\u2010 function intolerance across human protein\u2010coding genes. Preprint posted online August 13, 2019. 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