Hypoplastic left heart syndrome

Also known as: HLHS

Underdevelopment of the left ventricle, mitral and aortic valves and ascending aorta.

Medical specialty: Cardiology
Subspecialty: Cardiology / Congenital heart disease
Sex & age distribution: Male: affected, slightly more common; Female: affected; Children: yes, neonates
Gene(s) involved: ETS1, GJA1, HAND1, MYH6, MYH7, NKX2-5, NOTCH1, SMAD6

Etiology & mechanism

Reduced fetal left-sided flow and genetic defects; ductal-dependent systemic circulation.

Gene(s) involved (8)

ETS1GJA1HAND1MYH6MYH7NKX2-5NOTCH1SMAD6

Symptoms & signs (7)

absent peripheral pulsesmetabolic acidosisneonatal cyanosispoor feedingshock on ductal closuresingle second heart soundtachypnea

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.