Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?
Eur J Med Genet
; 64(6): 104209, 2021 Jun.
Article
em En
| MEDLINE
| ID: mdl-33766794
ABSTRACT
We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent transforming growth factor-beta binding protein 2 (LTBP2) (c.278_279dup, p.(Ser94Glyfs*187)). So far, LTBP2-variants have been frequently reported with an eye-restricted phenotype including primary congenital glaucoma and megalocornea/microspherphakia and ectopia lentis with/without secondary glaucoma. Hitherto reported systemic phenotypes showed, among others, features as tall stature, finger anomalies, high-arched palate and cardiovascular anomalies. The main pathophysiological finding of our patient was an alveolar capillary dysplasia (with pulmonary arterial hypertension and right ventricular impairment but without misalignment of pulmonary veins) resulting in almost continuous oxygen demand and prolonged dependence on mechanical ventilation. He died of respiratory failure at the age of seven months. This patient may extend the LTBP2-related phenotype with resulting diagnostic implications.
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MEDLINE
Assunto principal:
Síndrome da Persistência do Padrão de Circulação Fetal
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Fenótipo
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Alvéolos Pulmonares
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Doença Cardiopulmonar
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Oftalmopatias Hereditárias
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Glaucoma
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Doenças Genéticas Ligadas ao Cromossomo X
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Proteínas de Ligação a TGF-beta Latente
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article