title: Left Ventricular Non-compaction in Holt-Oram Syndrome.
abstract: Holt-Oram Syndrome is an autosomal dominant condition with complete penetrance and which involves upper limb skeletal and cardiac abnormalities. The latter can be structural defects or involve the conduction system. This report details the occurrence of left ventricular non-compaction in multiple family members with Holt-Oram Syndrome. It is recommended that patients with the Holt-Oram Syndrome be considered for comprehensive cardiac evaluation to exclude non-compaction cardiomyopathy as this may have significant prognostic implications.
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
authors.forename: Renuka
authors.initials: R
authors.lastname: Kapadia
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
authors.forename: Preeti
authors.initials: P
authors.lastname: Choudhary
authors.affiliation: Cardiovascular Unit, John Hunter Hospital, Newcastle, NSW, Australia.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Collins
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Celermajer
authors.affiliation: Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address: raj.puranik@cmrs.org.au.
authors.forename: Rajesh
authors.initials: R
authors.lastname: Puranik
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000328:Adult; D009202:Cardiomyopathies / Q000503:physiopathology*; D006330:Heart Defects, Congenital / Q000503:physiopathology*; D006344:Heart Septal Defects, Atrial / Q000503:physiopathology*; D006352:Heart Ventricles / Q000503:physiopathology*; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000503:physiopathology*; D008297:Male; D038062:Upper Extremity Deformities, Congenital / Q000503:physiopathology*
keywords: Holt-Oram Syndrome; Left ventricular non-compaction