Unveiling the complexity of nonobstructive hypertrophic cardiomyopathy

Maron BJ, Desai MY, Nishimura RA, Spirito P, Rakowski H, Towbin JA et al (2022) Diagnosis and evaluation of hypertrophic cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol 79(4):372–389

Article  PubMed  Google Scholar 

Aimo A, Todiere G, Barison A, Tomasoni D, Panichella G, Masri A et al (2025) Diagnosis and management of hypertrophic cardiomyopathy: European vs. American guidelines. Heart Fail Rev 30(2):315–325. https://doi.org/10.1007/s10741-024-10464-0

Braunwald E, Brockenbrough EC, Morrow AG (1962) Hypertrophic subaortic stenosis--a broadened concept. Circulation 26:161–165

Article  PubMed  Google Scholar 

Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C et al (2023) 2023 ESC guidelines for the management of cardiomyopathies. Eur Heart J 44(37):3503–3626

Article  PubMed  Google Scholar 

Ommen SR, Ho CY, Asif IM et al (2024) 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines [published correction appears in Circulation. 2024 Aug 20;150(8):e198. https://doi.org/10.1161/CIR.0000000000001277.]. Circulation. 2024;149(23):e1239–e1311. https://doi.org/10.1161/CIR.0000000000001250

Maron MS, Olivotto I, Zenovich AG, Link MS, Pandian NG, Kuvin JT et al (2006) Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction. Circulation 114(21):2232–2239

Article  PubMed  Google Scholar 

Massera D, Sherrid MV, Maron MS, Rowin EJ, Maron BJ (2023) How common is hypertrophic cardiomyopathy… really?: Disease prevalence revisited 27 years after CARDIA. Int J Cardiol 382:64–67

Article  PubMed  Google Scholar 

Canepa M, Fumagalli C, Tini G, Vincent-Tompkins J, Day SM, Ashley EA et al (2020) Temporal trend of age at diagnosis in hypertrophic cardiomyopathy: an analysis of the international Sarcomeric Human Cardiomyopathy Registry. Circ Heart Fail 13(9):e007230

Article  PubMed  PubMed Central  Google Scholar 

Shah JS, Esteban MTT, Thaman R, Sharma R, Mist B, Pantazis A et al (2008) Prevalence of exercise-induced left ventricular outflow tract obstruction in symptomatic patients with non-obstructive hypertrophic cardiomyopathy. Heart 94(10):1288–1294

Article  PubMed  Google Scholar 

Marian AJ, Braunwald E (2017) Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 121(7):749–770

Article  PubMed  PubMed Central  Google Scholar 

Borrelli F, Losi MA, Canciello G, Todde G, Perillo EF, Ordine L et al (2023) Sarcomeric versus non-sarcomeric HCM. Cardiogenetics 13(2):92–105

Article  Google Scholar 

Tadros R, Zheng SL, Grace C, Jordà P, Francis C, West DM et al (2025) Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy. Nat Genet 57(3):530–538

Article  PubMed  PubMed Central  Google Scholar 

Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A et al (2023) Genotype-phenotype taxonomy of hypertrophic cardiomyopathy. Circulation Genomic Precision Med 16(6):e004200

Article  Google Scholar 

Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF et al (2019) Distinct subgroups in hypertrophic cardiomyopathy in the NHLBI HCM Registry. J Am Coll Cardiol 74(19):2333–2345

Article  PubMed  PubMed Central  Google Scholar 

Sugiura K, Kubo T, Inoue S, Nomura S, Yamada T, Tobita T et al (2025) Unveiling clinical and genetic distinctions in pure-apical versus distal-dominant apical hypertrophic cardiomyopathy. J Am Heart Assoc 14(6):e038208

Article  PubMed  PubMed Central  Google Scholar 

Federspiel JM, Reil JC, Xu A, Scholtz S, Batzner A, Maack C et al (2024) Retrofitting the heart: explaining the enigmatic septal thickening in hypertrophic cardiomyopathy. Circ Heart Fail 17(5):e011435

Article  PubMed  Google Scholar 

Lever HM, Karam RF, Currie PJ, Healy BP (1989) Hypertrophic cardiomyopathy in the elderly. Distinctions from the young based on cardiac shape. Circulation 79(3):580–589

Article  PubMed  Google Scholar 

Syed IS, Ommen SR, Breen JF, Tajik AJ (2008) Hypertrophic cardiomyopathy: identification of morphological subtypes by echocardiography and cardiac magnetic resonance imaging. JACC Cardiovasc Imaging 1(3):377–379

Article  PubMed  Google Scholar 

Binder J, Ommen SR, Gersh BJ, Van Driest SL, Tajik AJ, Nishimura RA et al (2006) Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc 81(4):459–467

Article  PubMed  Google Scholar 

Hermida U, Stojanovski D, Raman B, Ariga R, Young AA, Carapella V et al (2023) Left ventricular anatomy in obstructive hypertrophic cardiomyopathy: beyond basal septal hypertrophy. Eur Heart J Cardiovasc Imaging 24(6):807–818

Article  PubMed  Google Scholar 

Martin R, Lairez O, Boudou N, Méjean S, Lhermusier T, Dumonteil N et al (2013) Relation between left ventricular outflow tract obstruction and left ventricular shape in patients with hypertrophic cardiomyopathy: a cardiac magnetic resonance imaging study. Arch Cardiovasc Dis 106(8):440–447

Article  PubMed  Google Scholar 

Maron BJ, Rowin EJ, Udelson JE, Maron MS (2018) Clinical spectrum and management of heart failure in hypertrophic cardiomyopathy. JACC Heart Fail 6(5):353–363

Article  PubMed  Google Scholar 

Covella M, Rowin EJ, Hill NS, Preston IR, Milan A, Opotowsky AR et al (2017) Mechanism of progressive heart failure and significance of pulmonary hypertension in obstructive hypertrophic cardiomyopathy. Circ Heart Fail 10(4):e003689

Article  PubMed  PubMed Central  Google Scholar 

Mazur W, Nagueh SF, Lakkis NM, Middleton KJ, Killip D, Roberts R et al (2001) Regression of left ventricular hypertrophy after nonsurgical septal reduction therapy for hypertrophic obstructive cardiomyopathy. Circulation 103(11):1492–1496

Article  PubMed  Google Scholar 

Nagueh SF, Lakkis NM, Middleton KJ, Killip D, Zoghbi WA, Quiñones MA et al (1999) Changes in left ventricular diastolic function 6 months after nonsurgical septal reduction therapy for hypertrophic obstructive cardiomyopathy. Circulation 99(3):344–347

Article  PubMed  Google Scholar 

Marian AJ (2021) Molecular genetic basis of hypertrophic cardiomyopathy. Circ Res 128(10):1533–1553

Article  PubMed  PubMed Central  Google Scholar 

Sen-Chowdhry S, Jacoby D, Moon JC, McKenna WJ (2016) Update on hypertrophic cardiomyopathy and a guide to the guidelines. Nat Rev Cardiol 13(11):651–675

Article  PubMed  Google Scholar 

Cecchi F, Olivotto I, Gistri R, Lorenzoni R, Chiriatti G, Camici PG (2003) Coronary microvascular dysfunction and prognosis in hypertrophic cardiomyopathy. N Engl J Med 349(11):1027–1035

Article  PubMed  Google Scholar 

Cannon RO, Schenke WH, Maron BJ, Tracy CM, Leon MB, Brush JE et al (1987) Differences in coronary flow and myocardial metabolism at rest and during pacing between patients with obstructive and patients with nonobstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 10(1):53–62

Article  PubMed  Google Scholar 

Raphael CE, Cooper R, Parker KH, Collinson J, Vassiliou V, Pennell DJ et al (2016) Mechanisms of myocardial ischemia in hypertrophic cardiomyopathy. J Am Coll Cardiol 68(15):1651–1660

Article  PubMed  PubMed Central  Google Scholar 

Maron BJ, Wolfson JK, Epstein SE, Roberts WC (1986) Intramural (“small vessel”) coronary artery disease in hypertrophic cardiomyopathy. J Am Coll Cardiol 8(3):545–557

Article  PubMed  Google Scholar 

Anderson RL, Trivedi DV, Sarkar SS, Henze M, Ma W, Gong H et al (2018) Deciphering the super relaxed state of human β-cardiac myosin and the mode of action of mavacamten from myosin molecules to muscle fibers. Proc Natl Acad Sci USA 115(35):E8143–E8152

Article  PubMed  PubMed Central  Google Scholar 

Crilley JG, Boehm EA, Blair E, Rajagopalan B, Blamire AM, Styles P et al (2003) Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. J Am Coll Cardiol 41(10):1776–1782

Article  PubMed  Google Scholar 

Ashrafian H, Watkins H (2001) Myocardial dysfunction in hypertrophic cardiomyopathy. Circulation 104(25):E165

Article  PubMed  Google Scholar 

Abozguia K, Elliott P, McKenna W, Phan TT, Nallur-Shivu G, Ahmed I et al (2010) Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy. Circulation 122(16):1562–1569

Comments (0)

No login
gif