Transthoracic Echocardiography in the Preoperative Assessment of Newborn Coarctation: Limiting Risks Associated with Advanced Imaging Techniques.

A newborn male child with prenatally identified aortic arch hypoplasia presented to our facility for cardiac management. He had been started on prostaglandins at the delivery facility and was subsequently placed on a high-flow nasal cannula due to associated apnea. On the day of life three, the patient underwent cardiac computed tomography scan for delineation of his anatomy.

Isolated Right Subclavian Artery From the Pulmonary Artery in D-Transposition of the Great Arteries.

• Isolated RSCA from the PA is a rare finding in d-TGA. • Atypical differential cyanosis in d-TGA may indicate abnormal aortic branching. • Fetal imaging can provide evidence of an isolated RSCA.

Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy.

Aims: The purpose of this study was to determine whether the deletion/insertion (D/I) polymorphism in the ACE-encoded angiotensin-converting enzyme or the pooled gene effect of five renin-angiotensin-aldosterone system (RAAS) polymorphisms were disease modifiers in a large cohort of unrelated patients with genotyped hypertrophic cardiomyopathy (HCM).

Methods And Results: Five different RAAS polymorphism genotypes were established by PCR amplification of the surrounding polymorphic regions of genomic DNA in a cohort of 389 unrelated patients comprehensively genotyped for HCM-causing mutations in eight sarcomeric/myofilament genes. Patient clinical data were archived in a database blinded both to the primary myofilament defect and the polymorphism genotype.

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

Background: Thin filament mutations are reported to cause approximately 20% of cases of hypertrophic cardiomyopathy (HCM), and they have been associated with specific phenotypes. However, the frequency of these mutations and their associated phenotype(s) from a large tertiary referral center population are unknown.

Methods And Results: DNA was obtained from 389 unrelated patients with HCM.