EXTERNAL MARKERS OF CONGENITAL HEART DISEASE

DOWN’s SYNDROME

Short statureMongoloid faciesBrachydactylyAtlanto axial instability

CVS - ASD ,VSD,PDA

ELLIS VAN CREVELD SYNDROME

Short limbs ,PolydactylyDysplastic nails, Genu valgumLip tie

CVS - Single atrium, ASD

KEARNS SAYRE SYNDROME

PtosisOphtalmoplegiaPigmentary retinopathy

CVS - AV block

CHARGE SYNDROME

ColobomaGenital hypoplasiaLow set ears

CVS - TOF

TURNER’s SYNDROME

Short stature, Webbed neckLow hair line, Low set earsBroad chest with widely spaced nipples, DeafnessPigmented naevi

CVS - Coarctationn of aorta - Bicuspid aortic valve

HOLT ORAM SYMDROME

Radial abnormalities of fore arm and hand

CVS - ASD ( Ostium Secundum ) - VSD

LEOPARD SYNDROME

Broad facies, HypertelorismGrowth retardationGenital and rib anomaly

CVS - Pulmonary stenosis - AV blocks

DIGEORGE SYNDROME

Cleft palateAbnormal facies

CVS - TOF - DORV

NOONAN SYNDROME(MALE TURNER)

Short stature Webbed neckLow hair lineHypertelorism, PtosisPectus excavatum, Cubitus valgus

CVS - Dyplastic pulmonary stenosis

LAURENCE MOON BIEDL SYNDROME

ObesityPolydactyly, SyndactylyRetinitis pigmentosa

CVS - Variable congenital heart disease

CORNELIA DELANGES SYNDROME

Short statureBushy eyebrowsSlanting eyes, Low set earsBroad flat nose

CVS - VSD, PDA, ASD

KLIPPEL FEIL SYNDROME

Facial asymmetryShort webbed neckLow hair line, Small jawCleft palateTorticollis, Scoliosis

CVS - VSD

KLINE FELTER’s SYNDROME

Tall stature Enuchoid habitusGynaecomastia, Small testis

CVS - ASD

WILLIAMS SYNDROME

Elfin faciesBroad flat nose, Peg shaped teeth

CVS - Supra valvular AS - Multiple peripheral PS

RUBINSTEIN TAYBI SYNDROME

Slanting palpebral fissuresThin beaked noseLow set ears, Short stature

CVS - VSD

RUBELLA SYNDROME

CataractRetinopathyDeafness

CVS - Pulmonary artery stenosis - PDA,VSD, TOF

Reference : BRAUNWALD TEXT BOOK OF CARDIAC DISEASESDr. Cherian Thampy, 2nd year PG email: cherianthampy@gmail.com