RESUMEN
Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes. Patients with a single mutation in cardiac troponin T, cardiac troponin I, α-tropomyosin, and regulatory and essential light chains were excluded from the study because the number of cases was too small. The clinical presentations and outcomes of the remaining 127 patients with HCM, 31 ß-myosin heavy chain (MYH7) mutation carriers, 19 cardiac myosin-binding protein C (MYBPC3) mutation carriers, and 77 mutation non-carriers were analyzed retrospectively. MYBPC3 mutation carriers had a high frequency of ventricular arrhythmia and syncope. Kaplan-Meier curves revealed no significant difference in prognosis among the three groups, but a lack of family history of sudden death (SD) and a past history of syncope were significantly related to poor prognosis. An absence of family history of SD and past history of syncope are useful prognostic factors in patients with HCM. MYH7 and MYBPC3 mutations did not significantly influence prognosis compared to non-carriers. However, patients with the MYBPC3 mutation should be closely followed for the possibility of SD.
Asunto(s)
Miosinas Cardíacas/genética , Cardiomiopatía Hipertrófica/genética , Cardiomiopatía Hipertrófica/mortalidad , Proteínas Portadoras/genética , Mutación , Cadenas Pesadas de Miosina/genética , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Muerte Súbita Cardíaca/etiología , Femenino , Estudios de Seguimiento , Estudios de Asociación Genética , Heterocigoto , Humanos , Japón , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Valor Predictivo de las Pruebas , Análisis de Regresión , Adulto JovenRESUMEN
We describe a rare case of surgical repair of a coronary artery aneurysm with arteriosclerotic changes accompanied by coronary arteriovenous fistula (CAVF) after 26 years of conservative therapy. A 71-year-old woman, diagnosed with CAVF 26 years previously, was admitted to our hospital for general fatigue and dyspnea on exertion. Physical examinations revealed that the CAVF originated from the distal portion of the left circumflex artery (LCX), draining into the coronary sinus (CS); it affected the coronary artery aneurysm with arteriosclerotic changes and was calcified from the left coronary main trunk to the distal portion of the LCX. Treatment without resection of the calcified coronary aneurysm was suggested because of fear of excessive bleeding. The CAVF was closed directly from inside the dilated coronary sinus under cardiopulmonary bypass. The dilated ostium of the left coronary artery was closed using a Xenomedica patch. Coronary artery bypass grafting was performed in the left anterior descending artery (LAD) and posterolateral branch (PL) of the LCX using saphenous vein grafts. Postoperatively, the coronary aneurysm was spontaneously thrombosed for low blood flow. The bleeding might have been uncontrolled if the arteriosclerotic and calcified coronary aneurysm had been incised. Therefore, we successfully thrombosed the calcified coronary aneurysm without resection, after reducing the systemic blood flow to the coronary aneurysm and sustaining the coronary blood flow, performed with CABG.