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Cardiology
Published in Fazal-I-Akbar Danish, Essential Lists of Differential Diagnoses for MRCP with diagnostic hints, 2017
Supravalvular aortic stenosis:1 Congenital.2 Coarctation of aorta.3 Williams’ syndrome.
Psychopharmacology of Williams syndrome: safety, tolerability, and effectiveness
Published in Expert Opinion on Drug Safety, 2021
Robyn P. Thom, Barbara R. Pober, Christopher J. McDougle
Cardiovascular disease is a major source of morbidity and mortality in WS. More than 80% of individuals with WS have cardiovascular involvement [15,16] with the majority of anomalies being due to arterial stenoses from deficient circumferential artery growth [17]. A longitudinal study of 80 patients with WS demonstrated that 87.5%, 53.8%, and 22.5% had supravalvular aortic stenosis, branch pulmonary stenosis, and mitral valve prolapse, respectively [18]. The risk of cardiac sudden death, which while overall remains very rare, is elevated by about 25 to 100 times of that of the general population [17]. Risk factors for sudden death include the use of anesthesia, biventricular outflow obstruction, biventricular hypertrophy, and coronary artery obstruction [3]. Additionally, patients with WS are at increased risk of cardiac repolarization abnormalities. A retrospective study of 499 electrocardiograms from 188 patients with WS demonstrated that QTc interval prolongation was found in 13.6% of WS patients, compared to 2.0% of non-WS controls [19]. However, it remains unknown whether the medical risks of prolonged QTc in WS are similar to the consequences of genetic ‘long QTc’ syndromes in the general population.
The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication
Published in Fetal and Pediatric Pathology, 2020
Yinghui Dang, Shanning Wan, Yunyun Zheng, Tingting Song, Chunyan Li, Yu Li, Jianfang Zhang
BoBs and CMA indicated an approximately 1.5-Mb heterozygous microdeletion/microduplication of 7q11.23 in seven fetuses. This region contains 23 OMIM genes, including LIMK1, ELN, GTF2I, etc. There are also many studies on related genes in this region. The dosage-sensitive pathways of the ELN and LIMK1 genes may play a role in reciprocal fashion, resulting in converse phenotypes in deletion and duplication patients. ELN haploinsufficiency is unequivocally responsible for supravalvular aortic stenosis (SVAS) and the other connective tissue abnormalities of WBS patients [13]. One study found that the ELN gene in skin fibroblasts from WBS patients had highly variable expression with values overlapping those of non-affected patients [14]. LIMK1 is markedly expressed in the central nervous system, especially in mature synapses, suggesting that it may be involved in synapse formation or maintenance [15]. GTF2I is associated with the hyper-sociability in WBS patients [16], and in contrast, to separation anxiety. Many factors may play a key role in determining the variable expressivity of the WBS phenotype [17].
The Notch pathway: a novel therapeutic target for cardiovascular diseases?
Published in Expert Opinion on Therapeutic Targets, 2019
Giorgio Aquila, Aleksandra Kostina, Francesco Vieceli Dalla Sega, Eugeniy Shlyakhto, Anna Kostareva, Luisa Marracino, Roberto Ferrari, Paola Rizzo, Anna Malaschicheva
A recent study of a cohort of 428 patients with a spectrum of diseases affecting aortic development such as aortic valve stenosis, a bicuspid aortic valve, aortic valve insufficiency coarctation of the aorta, and hypoplastic left heart syndrome, subvalvular or supravalvular aortic stenosis, hypoplastic aortic arch, interruption of the aorta, and mitral valve anomalies clearly demonstrates that the phenotypic spectrum of NOTCH1 mutations includes a wide variety of pathologies affecting the whole conotruncus of the heart [45]. This is in agreement with the described role of the Notch pathway in determining the fate of neural crest–derived cells. Alagille syndrome (ALGS), a congenital disease that mainly affects liver ducts and heart development, in the vast majority (up to 96%) of patients, is caused by mutations in JAGGED1 and NOTCH2 (in 1–2% of the cases) [46].