Recommended Citation
Hussein M, Martinez K, Galazka P, et al. MYH7 C.5326A>G (P.SER1776GLY) variant in hypertrophic cardiomyopathy patients from Filipino descent: A case series. Poster presentation at ACC Conference; March 2026; New Orleans, LA.
Presentation Notes
Poster presentation at ACC Conference; March 2026; New Orleans, LA.
Abstract
Case:
Background: Cardiac B Myosin heavy chain (MYH7) gene mutation variant c.5326A>G (p.Ser1776Gly) is found in some hypertrophic cardiomyopathy (HCM) cases. We present two Filipino ethnic HCM patients with this variant to indicate strong association between this variant and this ethnicity.
Case: 1) 57-year-old adopted man had echo for dyspnea. It showed left ventricular (LV) hypertrophy and LV ejection fraction of 38%. Coronary angiogram was normal. Cardiovascular magnetic resonance (CMR) suggested cardiac amyloidosis (CA) vs burned-out HCM. CA was ruled out by endomyocardial biopsy, hence the HCM diagnosis. He had the above variant.
2) 42-year-old woman came for workup as her mother had HCM. CMR showed mid-cavity HCM with LV apical aneurysm. Aneurysmectomy biopsy showed HCM. She had the above variant.
Decision-Making: Two Filipino ethnic HCM patients had the same genetic variant that was classified as variant of unknown significance by LabCorp (formerly Invitae). However, this variant is classified as “favor pathogenic” or “likely pathogenic” in other databases (e.g., Oxford Molecular Genetics Laboratory and Laboratory of Molecular Medicine). This inconsistency is likely due to lack of ancestral data. One study suggested a novel HCM pathogenesis by this variant, as its amino acids’ missense substitution is extremely energetically unfavorable.
Conclusion: We suggest strong association between this HCM variant and Filipino ethnicity. More genetic data is needed to support our observation.
Type
Poster
Affiliations
St Luke's Medical Center