RESUMEN
BACKGROUND: We assessed the global and regional ventricular septal functions using conventional echocardiography and two-dimensional speckle tracking imaging in children with postoperative multiple ventricular septal defects. METHODS: Thirty-six children were studied: 16 with postoperative multiple ventricular septal defects and 20 normal control subjects. In children with multiple ventricular septal defects, 60 ventricular septal defects were closed using one of three different techniques (patch closure, the sandwich technique, direct closure). Speckle tracking imaging was applied to three short-axis echocardiographic images. RESULTS: The total patch area used in the multiple ventricular septal defects group was correlated with the postoperative ejection fraction (r=0.703) and Tei index (r=0.778). The global septal peak systolic radial displacement and global septal peak systolic radial strain in the multiple ventricular septal defects group were significantly lower than those observed in the control subjects. The peak systolic radial strain in the segments closed with patches and the peak systolic radial displacement in the segments closed with the felt sandwich technique were significantly lower than those observed in the intact septal segments. No significant regional functional depressions were identified in the segments that were closed directly. CONCLUSIONS: The postoperative ventricular global and septal functions were significantly reduced in children with multiple ventricular septal defects, especially in the cases with complex congenital heart disease and that were closed with large prosthetic materials. These results suggest that an effort to minimize the use of patch materials may lead to preserved postoperative ventricular function.
Asunto(s)
Procedimientos Quirúrgicos Cardíacos/efectos adversos , Defectos del Tabique Interventricular/cirugía , Mortalidad Hospitalaria , Interpretación de Imagen Asistida por Computador , Disfunción Ventricular Izquierda/epidemiología , Distribución por Edad , Procedimientos Quirúrgicos Cardíacos/métodos , Procedimientos Quirúrgicos Cardíacos/mortalidad , Estudios de Casos y Controles , Preescolar , Ecocardiografía/métodos , Femenino , Estudios de Seguimiento , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/mortalidad , Humanos , Incidencia , Lactante , Masculino , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/fisiopatología , Valores de Referencia , Medición de Riesgo , Distribución por Sexo , Volumen Sistólico/fisiología , Tasa de Supervivencia , Resultado del Tratamiento , Disfunción Ventricular Izquierda/diagnóstico por imagen , Disfunción Ventricular Izquierda/etiologíaRESUMEN
Left ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. The purpose of this study was to investigate patients with LVNC for possible disease causing mutations. We screened 4 genes (TAZ, LDB3, DTNA and TPM1) in 51 patients with LVNC for mutations by polymerase chain reaction and direct DNA sequencing. A novel missense substitution in exon 1 of TPM1 (c.109A>G: p.Lys37Glu) was identified in three affected members of a family with isolated LVNC. The substitution brings about a change in amino acid charge at a highly conserved residue and could result in aberrant mRNA splicing. This variant was not identified in 200 normal control samples. Pathologic analysis of a right ventricular myocardial specimen from the proband's maternal aunt revealed endocardial and subendocardial fibrosis with prominent elastin deposition, as well as the presence of adipose tissue between muscle layers, pathologic changes that are distinct from those seen in patients with HCM or DCM. Screening of the proband and her mother for variants in other sarcomeric protein-encoding candidate genes, MYH7, MYBPC3, TNNT2, TNNI3, ACTC, MYL2, and MYL3, did not identify any other non-synonymous variants or variants in splice donor-acceptor sequences that were potentially disease causing. We conclude TPM1 is a potential candidate disease-causing gene for isolated LVNC, especially in patients experiencing sudden death.