Archives of medical research · 2026
Cardiomyopathy in Northwestern Mexico: Clinical Spectrum, Morphological Variants, and Sarcomere Gene Mutations.
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Machain-Leyva Cyntia Zulema, Arroyo-Rodríguez Cuitláhuac, Padilla-Islas Luis Alejandro, Martínez Hernández Francisco A, Figueroa-Sauceda Sergio Ramón, Zazueta-Armenta Verónica
Аннотация
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease characterized by left ventricular (LV) hypertrophy that cannot be fully explained by abnormal loading conditions.
AIM: To describe the clinical spectrum, morphological variants and sarcomere gene mutations in patients with HCM from northwestern Mexico.
MATERIALS AND METHODS: We conducted a prospective, cross-sectional study of patients diagnosed with HCM by echocardiography. Morphological variants were classified as: asymmetric septal, concentric, mid-cavity, lateral, and apical according to the location of the greatest LV thickening. Next-generation sequencing was performed with a predesigned panel of 19 genes associated with HCM.
RESULTS: A total of 110 patients (47.3% women; median age 58) were enrolled. Apical HCM was the most frequent morphological variant (42%), followed by asymmetric septal HCM (35%). Patients with apical HCM were older than those with other variants (p = 0.002). Patients with asymmetric septal hypertrophy had a higher septal/posterior wall thickness ratio (1.85 ± 0.6, p = 0.0001) and a larger left atrial anteroposterior diameter (48 ± 9, p = 0.0001). LV outflow obstruction, systolic anterior motion, and severe mitral regurgitation were more prevalent in patients with asymmetric septal HCM (p = 0.0001). Patients with concentric HCM had the greatest E/e' ratio (16.3 ± 8, p = 0.01). Among genotyped patients, 44% had a sarcomeric gene mutation, most commonly MYBPC3 (24%) and MYH7 (7%), with no significant differences across morphological variants.
CONCLUSIONS: Apical HCM was the most frequent morphological variant of HCM in the studied population. Consistent with global reports, MYBPC3 and MYH7 were the most commonly identified gene mutations.
AIM: To describe the clinical spectrum, morphological variants and sarcomere gene mutations in patients with HCM from northwestern Mexico.
MATERIALS AND METHODS: We conducted a prospective, cross-sectional study of patients diagnosed with HCM by echocardiography. Morphological variants were classified as: asymmetric septal, concentric, mid-cavity, lateral, and apical according to the location of the greatest LV thickening. Next-generation sequencing was performed with a predesigned panel of 19 genes associated with HCM.
RESULTS: A total of 110 patients (47.3% women; median age 58) were enrolled. Apical HCM was the most frequent morphological variant (42%), followed by asymmetric septal HCM (35%). Patients with apical HCM were older than those with other variants (p = 0.002). Patients with asymmetric septal hypertrophy had a higher septal/posterior wall thickness ratio (1.85 ± 0.6, p = 0.0001) and a larger left atrial anteroposterior diameter (48 ± 9, p = 0.0001). LV outflow obstruction, systolic anterior motion, and severe mitral regurgitation were more prevalent in patients with asymmetric septal HCM (p = 0.0001). Patients with concentric HCM had the greatest E/e' ratio (16.3 ± 8, p = 0.01). Among genotyped patients, 44% had a sarcomeric gene mutation, most commonly MYBPC3 (24%) and MYH7 (7%), with no significant differences across morphological variants.
CONCLUSIONS: Apical HCM was the most frequent morphological variant of HCM in the studied population. Consistent with global reports, MYBPC3 and MYH7 were the most commonly identified gene mutations.