What Are Potential Physical Examination Findings for Patients with Atrioventricular Canal Defects?

Discussion
Atrioventricular canal defects (AVCD) are a heterogeneous range of congenital heart defects (CHD) arising from malformations of intracardiac septal development. Essentially the location where the 4 corners of the 2 atria and 2 ventricula meet is abnormally formed. There is partial or complete fusion of the mitral and tricuspid valves along with atrial (ASD) and ventricular septal defects (VSD). Fusion of the endocardial cushions occurs around 4-5 weeks gestation. The anatomy for an individual is bespoke as the variations of the valve leaflets, chordal attachments and variations in ASD and VSD are numerous. This pathology causes fluid overload and left-to-right shunting and resulting pulmonary overcirculation.
AVCDs occur in ~3-7% of CHD patients or in about 3.5/10,000 live births. Patients with AVCDs often have extracardiac anomalies (75%). AVCDs are common in patients with Trisomy 21 (40-45% of Trisomy 21 patients have AVCD) but also with heterotaxy (15%). Non-syndrome patients are observed in about 25% of AVCD patients. Other genetic syndromes associated with AVCD include “CHARGE,…, Ellis-van-Creveld, Ivemark, Kaufman McKusick, Ritscher-Schinzel, Smith-Lemli-Opitz, and 3p.”
Patients are often identified prenatally on prenatal ultrasound or karyotype. Others are identified soon after birth with abnormal physical examination. Others may not present until 1-2 months of life when pulmonary overcirculation occurs. Diagnosis is made by echocardiogram....

Source: PediatricEducation.org - March 21, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news