Double orifice mitral valve combined with left ventricular noncompaction in a child with Sotos syndrome

Nakamura, Akihiro; Horigome, Hitoshi; Ishizu, Tomoko; Seo, Yoshihiro; Sumazaki, Ryo

doi:10.1016/j.jccase.2014.11.002

Cited by 3 publications

(2 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…One patient presented with moderate LV dysfunction requiring medical therapy. In the available literature, four unrelated cases documented left ventricular non-compaction in patients with Sotos syndrome, with one case also being associated with a double orifice mitral valve [ 17 , 18 , 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…Septal defect and patent ductus arteriosus (PDA) are the most commonly diagnosed malformations, but complex defects have also been reported, including tricuspid and pulmonary atresia [ 15 ], aortopulmonary window, pulmonary valve (PV) stenosis, and tetralogy of Fallot [ 16 ]. A high prevalence of Left Ventricular Non-Compaction (LVNC) has been observed [ 17 , 18 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Calcagni,

Ferrigno,

Franceschini

et al. 2024

Diagnostics

View full text Add to dashboard Cite

Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15–40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported. The aim of our study was to analyze the prevalence of HD, the anatomic types, and the genetic characteristics of 45 patients with Sotos syndrome carrying pathogenetic variants of NSD1 or a 5q35 deletion encompassing NSD1, who were followed at Bambino Gesù Children’s Hospital in Rome. Thirty-nine of the forty-five patients (86.7%) had a mutation in NSD1, while six of the forty-five (13.3%) had a deletion. Most of the patients (62.2%, 28/45) were male, with a mean age of 14 ± 7 years (range 0.2–37 years). A total of 27/45 (60.0%) of the patients had heart defects, isolated or combined with other defects, including septal defects (12 patients), aortic anomalies (9 patients), mitral valve and/or tricuspid valve dysplasia/insufficiency (1 patient), patent ductus arteriosus (3 patients), left ventricular non-compaction/hypertrabeculated left ventricle (LV) (4 patients), aortic coarctation (1 patient), aortopulmonary window (1 patient), and pulmonary valve anomalies (3 patients). The prevalences of HD in the two subgroups (deletion versus intragenic mutation) were similar (66.7% (4/6) in the deletion group versus 58.91% (23/39) in the intragenic variant group). Our results showed a higher prevalence of HD in patients with Sotos syndrome in comparison to that described in the literature, with similar distributions of patients with mutated and deleted genes. An accurate and detailed echocardiogram should be performed in patients with Sotos syndrome at diagnosis, and a specific cardiological follow-up program is needed.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Calcagni,

Ferrigno,

Franceschini

et al. 2024

Diagnostics

View full text Add to dashboard Cite

show abstract

Cardio-Skeletal Muscle Disease Associated With Syndromes

Khuchua

Towbin

2017

Cardioskeletal Myopathies in Children and Young Adults

View full text Add to dashboard Cite

Rare double orifice mitral valve malformation associated with bicuspid aortic valve in Turner syndrome: diagnosed by a series of novel three-dimensional echocardiography and literature review

Sun

Tan

Sun

et al. 2021

BMC Cardiovasc Disord

View full text Add to dashboard Cite

Background Patients with both double orifice mitral valve (DOMV) and bicuspid aortic valve (BAV) malformation are rare. Although DOMV or BAV can be detected in some genetic syndromes, it has not been reported to simultaneously appear in Turner syndrome (TS). TrueVue, TouchVue, and TrueVue Glass are the latest technologies in advanced three-dimensional echocardiography (3DE), which is an important information supplement to two-dimensional echocardiography (2DE) for the diagnosis of congenital cardiac malformations. Herein we report the novel use of the above-mentioned technologies in the diagnosis and evaluation of a rare, combined valve malformation. Meanwhile, we also reviewed the literature for cases involving both DOMV and BAV and their association with various genetic syndromes. Case presentation We present the case of a 5-year-old girl diagnosed with TS because of a developmental delay. DOMV and BAV were found through echocardiographic examination. Three-dimensional transthoracic echocardiography as well as a series of novel advanced techniques were applied to clearly display the spatial structure of all tiers of the mitral valve apparatus, aortic valve, and arch to facilitate an accurate diagnosis. Conclusions This is the first case in which both DOMV and BAV were associated with TS. Innovative TrueVue and TrueVue Glass offer unprecedented photographic stereoscopic images, while TouchVue technology greatly improved the ultrasonic diagnostic workflow and the diagnostic performance of rare valve malformations by adding virtual light sources to display realistic light-shadow effects.

show abstract

Double orifice mitral valve combined with left ventricular noncompaction in a child with Sotos syndrome

Cited by 3 publications

References 10 publications

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Cardio-Skeletal Muscle Disease Associated With Syndromes

Rare double orifice mitral valve malformation associated with bicuspid aortic valve in Turner syndrome: diagnosed by a series of novel three-dimensional echocardiography and literature review

Contact Info

Product

Resources

About