Cardiovascular disease in Down syndrome

@article{Versacci2018CardiovascularDI,
  title={Cardiovascular disease in Down syndrome},
  author={Paolo Versacci and Duccio Di Carlo and Maria Cristina Digilio and Bruno Marino},
  journal={Current Opinion in Pediatrics},
  year={2018},
  volume={30},
  pages={616–622}
}
Purpose of review In the last 40 years, with a better understanding of cardiac defects, and with the improved results of cardiac surgery, the life expectancy of persons with Down syndrome has significantly increased. This review article reports on advances in knowledge of cardiac defects and cardiovascular system of persons with trisomy 21. Recent findings New insights into the genetics of this syndrome have improved our understanding of the pathogenetic mechanisms of cardiac defects. Recent… 
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect
TLDR
It seems that particularly multiple complex defects in univentricular physiology associate with a worse outcome among atypical CHDs, and further studies need to address this specific issue, also considering the higher pulmonary pressures, infective complications, and potential comorbidities in DS patients.
Congenital heart disease in Down syndrome – A review of temporal changes
TLDR
To further improve knowledge on CHD in DS, it is suggested that future studies cover a wide range of nations and regions, with a longitudinal design, and account for potential confounding factors.
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations
TLDR
The type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities are updated and clinicians are encouraged to view the cardiac diagnosis as a “phenotype” which supplements the external dysmorphology examination.
Cardiac disease in Down Syndrome: literature review and international expert consensus in collaboration with Down Syndrome International (DSi)
TLDR
The aim of this collaboration is to describe best clinical practice, focusing on 10 key areas relating to Down syndrome and cardiac disease, from prenatal diagnosis to the care of patients in areas of differing resource availability.
Congenital Heart Disease: An Immunological Perspective
TLDR
The current knowledge coinciding CHDs with immune and inflammatory associations is addressed, emphasizing conditions where this understanding would provide clinical benefit, and challenges in studying these mechanisms.
Perioperative care of adults with Down syndrome: a narrative review
TLDR
The common pediatric co-morbidities associated with DS are described and the age-acquired manifestations are discussed and considerations for anesthetic care of the adult with DS will be presented, including the preoperative assessment, intraoperative management, and postoperative care.
Cardiovascular Prevention Among Young Adults with Congenital Heart Disease
TLDR
This review focuses on the most recent literature regarding the primary prevention of ASCVD in young ACHD patients and unique considerations for ASCVD risk reduction in ACHd patients.
New Molecular and Organelle Alterations Linked to Down Syndrome Heart Disease
TLDR
The importance of investigating how mitochondrial and lysosomal dysfunction could eventually contribute to understanding impaired heart function and development in subjects with the Hsa21 trisomy is highlighted.
In Utero Diagnoses of Strikingly Similar Presentations of Complete Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant for Trisomy 21
TLDR
An unusual case of dizygotic twins of differing genders concordant for both Down syndrome and congenital heart disease of a strikingly similar presentation is described.
Maternal iron deficiency perturbs embryonic cardiovascular development in mice
TLDR
It is shown that maternal ID increases the severity of heart and craniofacial defects in a mouse model of Down syndrome, and it will be important to understand if the effects of maternal ID seen here in mice may have clinical implications for women.
...
1
2
3
...

References

SHOWING 1-10 OF 98 REFERENCES
[Heart malformations in children with Down syndrome].
TLDR
A longitudinal, retrospective, observational descriptive study was done to determine the incidence, type of heart disease and clinical course in patients with Down syndrome, and to compare the findings with data from other countries.
Dynamics in prevalence of Down syndrome in children with congenital heart disease
TLDR
The data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndrome patients and progress in educational, social, and financial support for their families.
Congenital Heart Disease in Down Syndrome
TLDR
Expert groups suggest that the cardiac status of all children with Down syndrome should be established by 6 weeks of age to permit appropriate and timely treatment avoiding the establishment of irreversible pulmonary vascular disease that would make corrective surgery impossible.
Congenital heart disease in patients with Down's syndrome: anatomic and genetic aspects.
  • B. Marino
  • Medicine
    Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
  • 1993
Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome
TLDR
In neonates with DS, it is found not only a 43% prevalence of congenital heart defects, but also a high incidence of PPHN, which is significantly higher than the general population at 5.2%.
Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis
TLDR
CHD, particularly AVSD, are more common in the female gender of Down’s syndrome patients, particularly atrioventricular septal defects (AVSD), in female patients.
Recognising heart disease in children with Down syndrome
TLDR
It is explained that urgent indiscriminate referral to paediatric cardiologists of all newborns with the syndrome is not necessary and surveillance principles that should allow child health teams to develop effective screening protocols appropriate to local service provision and level of clinical experience and specialist interest available are outlined.
Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis.
  • C. Broda, A. Cabrera, P. Shamszad
  • Medicine
    The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation
  • 2018
...
1
2
3
4
5
...