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Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers
Author(s) -
Unolt Marta,
Versacci Paolo,
Anaclerio Silvia,
Lambiase Caterina,
Calcagni Giulio,
Trezzi Matteo,
Carotti Adriano,
Crowley Terrence Blaine,
Zackai Elaine H.,
Goldmuntz Elizabeth,
Gaynor James William,
Digilio Maria Cristina,
McDonaldMcGinn Donna M.,
Marino Bruno
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38662
Subject(s) - comorbidity , life expectancy , medicine , deletion syndrome , digeorge syndrome , population , mechanism (biology) , comprehension , genetic syndromes , intensive care medicine , pediatrics , phenotype , psychiatry , genetics , biology , philosophy , environmental health , epistemology , gene , linguistics
Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main cause of mortality in the affected children. In the past 30 years, much progress has been made in describing the anatomical patterns of CHD, in improving their diagnosis, medical treatment, and surgical procedures for these conditions, as well as in understanding the underlying genetic and developmental mechanisms. However, further studies are still needed to better determine the true prevalence of CHDs in 22q11.2DS, including data from prenatal studies and on the adult population, to further clarify the genetic mechanisms behind the high variability of phenotypic expression of 22q11.2DS, and to fully understand the mechanism responsible for the increased postoperative morbidity and for the premature death of these patients. Moreover, the increased life expectancy of persons with 22q11.2DS allowed the expansion of the adult population that poses new challenges for clinicians such as acquired cardiovascular problems and complexity related to multisystemic comorbidity. In this review, we provide a comprehensive review of the existing literature about 22q11.2DS in order to summarize the knowledge gained in the past years of clinical experience and research, as well as to identify the remaining gaps in comprehension of this syndrome and the possible future research directions.