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Updated: Feb 13, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Sentadilla en la miocardiopatía hipertrófica obstructiva

Niloufar Javadi¹, Patrycja Galazka¹, Matthew Peters¹

¹Aurora Cardiovascular and Thoracic Services, Aurora Sinai/Aurora St Luke's Medical Centers, Aurora Health Care, Milwaukee, Wisconsin, USA.

JACC. Case reports

|February 12, 2026

Abstracto

Case Summary:

A 50-year-old man and a 33-year-old woman with obstructive hypertrophic cardiomyopathy underwent auscultation and Doppler echocardiography at our specialty center. Both had a systolic ejection murmur that increased with Valsalva strain and on standing. During prompt squat, the murmur disappeared in the first patient and became grade I in the second. This is to our knowledge the first documentation of confirmation of the hemodynamic changes associated with prompt squat.

Take-Home Messages:

Mastery of bedside maneuvers such as squatting enhances clinical assessment in obstructive hypertrophic cardiomyopathy. Careful auscultation remains a powerful tool alongside modern imaging.

Palabras clave:

ecocardiografía Doppler auscultación obstrucción del tracto de salida del ventrículo izquierdo miocardiopatía hipertrófica obstructiva sentadilla

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