Syndromes Caffey Flashcards
Connective tissue disorder
Joint and skin hyperextensibility, excessive bruisability, blood vessel fragility and poor wound healing
Ehlers-Danlos syndrome (EDS)
Autosomal dominant
Muations in COL3A1 gene coding type III collagen
MC cardiovascular anomaly in ehlers-danlos syndrome
Mitral valve prolapse
Autosomal dominant disorder of connective tissue caused by mutations in the FBN 1
Marfan syndrome
35-100% of marfan pts develop
MVP
More than 80% of marfan pts develop
Aortic root dilatation or mvp before 18yo
Connectibe tissue disorder with dysregulation of TGF-B
Loeys-dietz syndrome
Elingated and tortuos large arteries, aneurysm formation and stenoses
Loeys-dietz syndrome type 1
Craniofacial and vascular anomalies
Loeys-dietz syndrome type 2
Bifid uvula but usually do not have other craniofacial anomalies
Cafe-au-lait spots, axillary freckling, dermal and flexiform neurofibromas and learning disabilities
Neurofibromatosis1
Autosomal dominant
Most common heart cardiovascular lesion of neurofibromatosis 1
Pulmonic stenosis
Rib deformities in
NF1
Hamartomas of multiple organs
Seizures, cognitive impairment and skin lesions
Tuberous sclerosis
Mc pediatric cardiac tumors and 70-90% are associated with tuberous sclerosis
Cardiac rhabdomyomas
Earliest finding of tuberus sclerosis in utero-utz
Mc cardiac defect in noonas
Pulmonary stenosis
Webbed neck, short stature, cardiac anomalies, deafness, motor delays and mild cognitive impairement
Noonan syndrome
CATCH 22
DiGeorge syndrome
Mc cardiac anomalies in de george
Truncus arteriosus and interruption of the aortic arc
Tof
Aberant subclavian artery
Mc genetic anomaly associated with congenital heart disease
Trisomy21
AVSD/ endocardial cushion defect- MOst common
Most severe of the viable trisomies
Trisomy 13 (patau syndrome)
ASD, VSD,PSA, dextrocardia and double outlet right ventricle
Mc cardiac anomaly in trisomy 18 (edwards syndrome)
VSD
Monosomy X, XO
Webbed neck,shield chest, shirt stature, gonadal insufficiency and infertility
Turner syndrome
Mc heart defect in turner syndrome
COA and bicuspid aortic calve
47, XXY
Infertility, gynecomastia, hypogonadotropic hypogonadism, cognitive impairment and predisposition to malignancy
Klinefelter syndrome
Mc cardiac anomaly in Klinefelter syndrome
MVP
