The presence of Down syndrome is not a risk factor in complete atrioventricular septal defect repair

Ruediger Lange1, Thomas Guenther, Raymonde Busch

  • 1Department of Cardiovascular Surgery, German Heart Center, Clinic at the Technical University, Munich, Germany.

Insights

Down syndrome (DS) patients with complete atrioventricular septal defect (CAVD) have higher pulmonary pressures but similar surgical outcomes to non-DS patients. Early repair is recommended for DS patients due to potential pulmonary vascular disease.

Area of Science:

  • Cardiology
  • Pediatric Surgery
  • Genetics

Background:

  • Complete atrioventricular septal defect (CAVD) is common in Down syndrome (DS).
  • Understanding the impact of DS on CAVD outcomes is crucial for surgical planning.

Purpose of the Study:

  • To evaluate the influence of Down syndrome on the morphology, surgical management, and mortality of patients with complete atrioventricular septal defect.

Main Methods:

  • Retrospective analysis of 476 patients with CAVD who underwent surgery between 1974 and 2005.
  • Comparison of outcomes between patients with (Group D) and without (Group ND) Down syndrome.

Main Results:

  • Patients with Down syndrome showed higher preoperative pulmonary artery pressure and resistance.
  • No significant differences in operative strategy or timing of repair were observed.
  • Long-term survival was comparable, but left atrioventricular valve reintervention was less frequent in Down syndrome patients.

Conclusions:

  • Down syndrome is not a risk factor for surgical repair of CAVD.
  • Early primary repair (within 6 months) is advised for DS patients due to early pulmonary vascular disease.
  • Children without Down syndrome require more frequent left atrioventricular valve reinterventions long-term.
Abstract

Related Concept Videos

Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
Mitral Stenosis III: Medical Management01:26

Mitral Stenosis III: Medical Management

Mitral stenosis, a condition marked by the narrowing of the mitral valve, necessitates an integrated approach for effective management. This approach includes preventative measures, medical therapy, and surgical interventions to reduce symptoms and prevent complications.PreventionPrevention of mitral stenosis primarily focuses on reducing the incidence of bacterial infections, particularly streptococcal infections, which can lead to rheumatic fever and subsequent valvular damage. Timely...