Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.
Am J Med Genet A
; 194(3): e63458, 2024 Mar.
Article
en En
| MEDLINE
| ID: mdl-37921548
ABSTRACT
Pathogenic variants in several genes involved in the function or regulation of smooth muscle cells (SMC) are known to predispose to congenital heart disease and thoracic aortic aneurysm and dissection (TAAD). Variants in MYLK are primarily known to predispose to TAAD, but a growing body of evidence points toward MYLK also playing an essential role in the regulation of SMC contraction outside the aorta. In this case report, we present a patient with co-occurrence of persistent ductus arteriosus (PDA) and thoracic aortic dissection. Genetic analyses revealed a novel splice acceptor variant (c.3986-1G > A) in MYLK, which segregated with disease in the family. RNA-analyses on fibroblasts showed that the variant induced skipping of exon 24, which resulted in an in-frame deletion of 101 amino acids. These findings suggest that MYLK-associated disease could include a broader phenotypic spectrum than isolated TAAD, including PDA and obstructive pulmonary disease. Genetic analyses could be considered in families with TAAD and PDA or obstructive pulmonary disease.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Azidas
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Aneurisma de la Aorta Torácica
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Desoxiglucosa
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Conducto Arterial
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Conducto Arterioso Permeable
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Disección Aórtica
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Enfermedades Pulmonares Obstructivas
Límite:
Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Dinamarca