Congenital heart defects and skeletal malformation syndrome with congenital hemiplegia
DOI:
https://doi.org/10.18203/2349-3933.ijam20211066Keywords:
Congenital heart defects, Skeletal malformations, Germline mutations, Congenital hemiplegiaAbstract
Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history of congenital heart disease (ventricular septal defect) and skeletal malformations which are typical of CHDSKM. Patient also had congenital hemiplegia which is rare in CHDSKMS. Patient also had lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other causes. Current report is one of the rare case reports of CHDSKMS, only few case reports have been published till now.
References
Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017;49(4):613-7.
Yamamoto H, Hayano S, Okuno Y, Onoda A, Kato K, Nagai N, et al. Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect. Int J Cardiol. 2021;326:81-7.
Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, et al. Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. Eur J Hum Genet. 2020;52(2):158-65.
Botto LD. Epidemiology and prevention of congenital heart defects. In: Allen HD eds. Moss and Adams’ heart disease in infants, children, and adolescents including the fetus and young adult. 9th edn. Philadelphia: Wolters Kluwer; 2016:55-86.
Goldmuntz E, Crenshaw ML. Genetic aspects of congenital heart defects. In: Allen HD eds. Moss and Adams’ Heart disease in infants, children, and adolescents including the fetus and young adult. 9th edn., Philadelphia: Wolters Kluwer; 2016:87-116.
