6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype.
BMC Cardiovasc Disord
; 20(1): 137, 2020 03 17.
Article
em En
| MEDLINE
| ID: mdl-32183715
ABSTRACT
INTRODUCTION:
Hypoplastic left heart syndrome (HLHS) is a rare but devastating congenital heart defect (CHD) accounting for 25% of all infant deaths due to a CHD. The etiology of HLHS remains elusive, but there is increasing evidence to support a genetic cause for HLHS; in particular, this syndrome is associated with abnormalities in genes involved in cardiac development. Consistent with the involvement of heritable genes in structural heart abnormalities, family members of HLHS patients have a higher incidence of both left- and right-sided valve abnormalities, including bicuspid aortic valve (BAV). CASE PRESENTATION We previously described (Am J Med Genet A 1731848-1857, 2017) a 4-generation family with a 6q25.1 microdeletion encompassing TAB2, a gene known to play an important role in outflow tract and cardiac valve formation during embryonic development. Affected adult family members have short stature, dysmorphic facial features, and multiple valve dysplasia, including BAV. This follow-up report includes previously unpublished details of the cardiac phenotype of affected family members. It also describes a baby recently born into this family who was diagnosed prenatally with short long bones, intrauterine growth restriction (IUGR), and HLHS. He was the second family member to have HLHS; the first died several decades ago. Postnatal genetic testing confirmed the baby had inherited the familial TAB2 deletion.CONCLUSIONS:
Our findings suggest TAB2 haploinsufficiency is a risk factor for HLHS and expands the phenotypic spectrum of this microdeletion syndrome. Chromosomal single nucleotide polymorphism (SNP) microarray analysis and molecular testing for a TAB2 loss of function variant should be considered for individuals with HLHS, particularly in those with additional non-cardiac findings such as IUGR, short stature, and/or dysmorphic facial features.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Valva Aórtica
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Anormalidades Múltiplas
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Aberrações Cromossômicas
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Síndrome do Coração Esquerdo Hipoplásico
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Proteínas Adaptadoras de Transdução de Sinal
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Doenças das Valvas Cardíacas
Tipo de estudo:
Etiology_studies
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Risk_factors_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Revista:
BMC Cardiovasc Disord
Assunto da revista:
ANGIOLOGIA
/
CARDIOLOGIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Estados Unidos