Correlación de la genética mitocondrial con el desarrollo de disfunción ventricular derecha en cardiopatías congénitas predisponentes

  1. Martínez Bendayán, Isaac
Supervised by:
  1. Jesús Peteiro Vázquez Co-director
  2. Víctor Bautista Hernández Co-director

Defence university: Universidade da Coruña

Fecha de defensa: 18 September 2017

Committee:
  1. Ángel Luis Fernández González Chair
  2. María Generosa Crespo Leiro Secretary
  3. Borja Ibáñez Cabeza Committee member

Type: Thesis

Teseo: 504821 DIALNET lock_openRUC editor

Abstract

Introduction: Outcomes of patients with congenital Heart disease suffering from pressure or volume overload on the right ventricle. Research under the influence of mitochondrial genetics. Methods: In 120 individuals, the different mitochondrial DNA haplogroups were obtained. Clinical data and description of the right ventricle through echocardiography and MRI was gathered. Results: The diastolic indexed volume and the basal diameter of the right ventricle in patients with haplogroups H and J overtook less likely 140 ml/m2 (p 0.047) or 50 mm (p 0.037) respectively. QRS duration was 131,25 ms (±29,9) in haplogroup H, 131.43 (±28.3) in haplogroup J and 147,5 ms (±34.1) in the others haplogroups (p 0.021). There was not enough statistic correlation among the different haplogroups and development of ventricular dysfunction as time goes by. Just QRS duration was the only predictor of this outcome: 130.2 ms (±29.5) vs 158.2 ms (±31.1) (p 0.008). The haplogroups did not influence on the clinical event (RVidV > 140 ml/m2, or RVisV > 90 ml/m2, or RVEF < 40%, RV diameter > 50 mm or TAPSE < 10 mm, or surgery indication). Predictors to fulfil these criteria were functional class (p 0.04), the degree of pulmonary regurgitation (p 0.04) and the amount of pulmonary valve stenosis (0.037). Conclusions: The haplogroups H and J showed protection against right ventricle dilatation. The functional class and the degree of pulmonary valve dysfunction were the predictors of clinical events.