Familial occurrence of isolated right ventricular hypoplasia

Chessa, Massimo; Redaelli, S; Masszi, George; Iascone, Maria; Carminati, Mário

doi:10.1002/(sici)1096-8628(20000228)90:5<356::aid-ajmg2>3.0.co;2-c

Cited by 14 publications

(12 citation statements)

References 6 publications

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“… 7 The main cause of isolated right ventricle hypoplasia in most cases is unknown; in some cases, however, the cause appears to be familial. 8 , 9 We detected this association in our cases 1, 2, 3, and 6; however, our genetic tests on these cases aimed at finding a mutation or a single-nucleotide polymorphism yielded no evidence to confirm this hypothesis. The existing literature lacks a reliable estimation as regards predominance between sexes in isolated right ventricle hypoplasia.…”

Section: Discussionmentioning

confidence: 55%

Best management in isolated right ventricular hypoplasia with septal defects in adults

Khajali

Arabian

Aliramezany

2020

J Cardiovasc Thorac Res

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Hypoplastic right ventricle is a rare congenital disease usually associated with pulmonary atresia or tricuspid atresia. Isolated right ventricular hypoplasia is a rare anomaly without important valvular abnormalities. It is associated with inter atrial septal defects leading to the right-to-left shunting of blood. Patients with isolated right ventricular hypoplasia usually have different and variable courses. In some patients, it is recognized in the perinatal period and necessitates prompt intervention; nonetheless, there are some reports of this anomaly in old age with no significant symptoms. In this report, we describe the clinical data and management of 6 adult cases with isolated right ventricular hypoplasia treated medically or surgically based on the severity of the disease and symptoms and then offer an in-depth discussion regarding this rare anomaly.

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Section: Discussionmentioning

confidence: 55%

Best management in isolated right ventricular hypoplasia with septal defects in adults

Khajali

Arabian

Aliramezany

2020

J Cardiovasc Thorac Res

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“…The degree of hypoplasia has a significant effect on the variations in the clinical spectrum. Severe forms of hypoplasia were reported to be seen mostly in infancy and to resemble tricuspid or pulmonary atresia, usually with cyanosis in childhood in the reported cases 1 2. It must be noted that lesser degrees of hypoplasia resemble Ebstein’s malformation and anomalies of the systemic venous return.…”

Section: Descriptionmentioning

confidence: 82%

Where is the right ventricle?

et al. 2014

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“…Several reports of familial recurrence of HRHS suggest a genetic component. (Becker, Becker, Moller, & Edwards, ; Chitayat, McIntosh, & Fouron, ; Eriksen, Buttino Jr., & Juberg, ; Medd, Neufeld, Weidman, & Edwards, ) Isolated right ventricular hypoplasia has also been reported in siblings and offspring of affected individuals (Chessa, Redaelli, Masszi, Iascone, & Carminati, ; Sackner, Robinson, Jamison, & Lewis, ). Furthermore, a case of monozygotic twins with right ventricle hypoplasia, pulmonary atresia, and intact ventricular septum has been reported (De Stefano, Li, Xiang, Hui, & Zambrano, ).…”

Section: Introductionmentioning

confidence: 99%

Copy number variants in hypoplastic right heart syndrome

Giannakou

Sicko

Kay

et al. 2018

American J of Med Genetics Pt A

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Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdeveloped and malformed structures of the right heart. Familial recurrence of HRHS indicates genetic factors contribute to its etiology. Our study investigates the presence of copy number variants (CNVs) in HRHS cases. We genotyped 42 HRHS cases identified from live births throughout California (2003-2010) using the Illumina HumanOmni2.5-8 array. We identified 14 candidate CNVs in 14 HRHS cases (33%) based on the genes included in the CNVs and their functions. Duplications overlapping part of ERBB4 were identified in two unrelated cases.ERBB4 is a neuregulin receptor with a pivotal role in cardiomyocyte differentiation and heart development. We also described a 7.5 Mb duplication at 16q11-12. Multiple genes in the duplicated region have previously been linked to heart defects and cardiac development, including RPGRIP1L, RBL2, SALL1, and MYLK3. Of the 14 validated CNVs, we identified four CNVs in close proximity to genes linked to the Wnt signaling pathway. This study expands on our previous work supporting the role of genetics in HRHS. We identified CNVs affecting crucial genes and signaling pathways involved in right heart development. ERBB4 and duplication of the 16q11-12 region are important areas for future investigation.

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Familial occurrence of isolated right ventricular hypoplasia

Cited by 14 publications

References 6 publications

Best management in isolated right ventricular hypoplasia with septal defects in adults

Best management in isolated right ventricular hypoplasia with septal defects in adults

Where is the right ventricle?

Copy number variants in hypoplastic right heart syndrome

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