Miocardiopatía hipertrófica: avances en diagnóstico y tratamiento.
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| Title: | Miocardiopatía hipertrófica: avances en diagnóstico y tratamiento. |
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| Alternate Title: | Hypertrophic cardiomyopathy: new insights into diag nosis and therapy. |
| Authors: | Gómez, Luis E.1 (AUTHOR), Atamañuk, Andrés N.1 (AUTHOR), Jaimovich, Guillermo2 (AUTHOR), Bruque, Carlos D.3 (AUTHOR) bruquecarlos@gmail.com |
| Source: | Medicina (Buenos Aires). nov/dic2025, Vol. 85 Issue 6, p1367-1383. 17p. |
| Subjects: | HYPERTROPHIC cardiomyopathy, THERAPEUTICS, GENETICS, ATRIAL fibrillation, DIAGNOSIS, ECHOCARDIOGRAPHY, MYOSIN, RISK assessment |
| Abstract (English): | Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by left ventricular hyper trophy (LVH ≥15 mm) in the absence of other causes. It affects 1 in 500 individuals, with an autosomal domi nant inheritance pattern involving MYH7 and MYBPC3, the most commonly affected genes. Diagnosis relies on echocardiography, with cardiac magnetic resonance pro viding additional insights, including late gadolinium en hancement, aneurysms, and microvascular dysfunction linked to adverse outcomes. Risk stratification for sud den cardiac death includes the HCM Risk-SCD (adults) and HCM Risk-Kids (pediatrics) models, guiding implant able cardioverter defibrillator therapy. Management depends on phenotype 1. Obstructive HCM First-line therapy includes beta-blockers or non-dihydropyridine calcium channel blockers. Myosin inhibitors offer new options for symptom control. In refractory cases, surgical myectomy or alcohol septal ablation is recommended. 2. Non-Obstructive HCM Treatment focuses on diastolic dysfunction and arrhythmia management, with emerg ing pharmacologic options under investigation. 3. Atrial fibrillation Common in HCM, requiring anticoagulation, rate control, or ablation. Advances in genetic testing, imaging, and targeted therapies have significantly reduced HCM-related mor tality to 0.5% per year, transforming it into a manageable condition. Future research will enhance precision medi cine, surgical expertise, and equitable access to care. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | La miocardiopatía hipertrófica (MCH) es una enfer medad cardíaca genética caracterizada por hipertrofia del ventrículo izquierdo (HVI) ≥15 mm en ausencia de otras causas que la justifiquen. Afecta aproximadamente 1 de cada 500 personas y se asocia principalmente con mutaciones en genes MYH7 y MYBPC3. El diagnóstico se realiza mediante ecocardiografía, complementada por resonancia magnética cardíaca, la cual proporciona información adicional relevante, como presencia de realce tardío con gadolinio, aneurismas y disfunción microvascular, todos ellos factores relacionados con peor pronóstico. El manejo depende del fenotipo 1. MCH obstructiva La terapia de primera línea incluye betabloqueantes o bloqueantes de canales de calcio no dihidropiridínicos. Los inhibidores de miosina representan nuevas opciones para el control de los síntomas. En casos refractarios, se recomienda miectomía quirúrgica o la ablación septal con alcohol. 2. MCH no obstructiva El tratamiento se centra en la disfunción diastólica y el manejo de las arritmias, con opciones farmacológicas emergentes en investigación. 3. Fibrilación auricular Común en la MCH, requiere anticoagulación, control de la frecuencia o ablación. La estratificación del riesgo de muerte súbita cardíaca se realiza mediante los modelos HCM Risk-SCD (para adultos) y HCM Risk-Kids (para pediatría), que guían la indicación de un desfibrilador automático implantable. Los avances en las pruebas genéticas, las técnicas de imagen y las terapias dirigidas han reducido significa tivamente la mortalidad relacionada con la MCH a un 0.5% anual, transformándola en una enfermedad mane jable. La investigación futura continuará mejorando la medicina de precisión, la pericia quirúrgica y el acceso equitativo a la atención médica. [ABSTRACT FROM AUTHOR] |
| Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
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| Abstract: | Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by left ventricular hyper trophy (LVH ≥15 mm) in the absence of other causes. It affects 1 in 500 individuals, with an autosomal domi nant inheritance pattern involving MYH7 and MYBPC3, the most commonly affected genes. Diagnosis relies on echocardiography, with cardiac magnetic resonance pro viding additional insights, including late gadolinium en hancement, aneurysms, and microvascular dysfunction linked to adverse outcomes. Risk stratification for sud den cardiac death includes the HCM Risk-SCD (adults) and HCM Risk-Kids (pediatrics) models, guiding implant able cardioverter defibrillator therapy. Management depends on phenotype 1. Obstructive HCM First-line therapy includes beta-blockers or non-dihydropyridine calcium channel blockers. Myosin inhibitors offer new options for symptom control. In refractory cases, surgical myectomy or alcohol septal ablation is recommended. 2. Non-Obstructive HCM Treatment focuses on diastolic dysfunction and arrhythmia management, with emerg ing pharmacologic options under investigation. 3. Atrial fibrillation Common in HCM, requiring anticoagulation, rate control, or ablation. Advances in genetic testing, imaging, and targeted therapies have significantly reduced HCM-related mor tality to 0.5% per year, transforming it into a manageable condition. Future research will enhance precision medi cine, surgical expertise, and equitable access to care. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 00257680 |
