Auscultation While Standing: A Basic and Reliable Method to Rule Out a Pathologic Heart Murmur in Children.

Purpose: The distinction between physiologic (innocent) and pathologic (organic) heart murmurs is not always easy in routine practice, leading too often to unnecessary cardiology referrals and expensive investigations. We aimed to test the hypothesis that the complete disappearance of murmur on standing can exclude cardiac disease in children.

Methods: From January 2014 to January 2015, we prospectively included 194 consecutive children aged 2 to 18 years who were referred for heart murmur evaluation to pediatric cardiologists at 2 French medical centers.

Natural history of Barth syndrome: a national cohort study of 22 patients.

Background: This study describes the natural history of Barth syndrome (BTHS).

Methods: The medical records of all patients with BTHS living in France were identified in multiple sources and reviewed.

Results: We identified 16 BTHS pedigrees that included 22 patients.

Barth syndrome in a female patient.

Background: Barth syndrome (BTHS) is an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy and cyclic neutropenia in male patients. It is caused by mutations in the TAZ gene coding for the tafazzin, a protein involved in the remodeling of cardiolipin. Loss of cardiolipin in the inner mitochondrial membrane results in respiratory chain dysfunction.

Unusual hemodynamic changes in an infant with a restrictive ventricular septal defect.

A 7-month-old asymptomatic infant was known to have a restrictive membranous ventricular septal defect partially closed by an aneurysm of the membranous septum. At 13 months of age, he developed unexpected pulmonary hypertension, with no clinical sign of cardiac failure. Cardiac catheterization assessed the pulmonary artery pressure at a systemic level with significant left-to-right shunt.