岚哥岚嫂说病例第2季第02期（解析部分）

岚哥岚嫂说病例第2季第02期（病例部分）

The female infant has flexiable webbed neck,widely spaced nipples,high-arced palate,edematous hands and feet.All of these are the specific physical signs of Turner's Syndrome，or gonadal dysgenesis,which due to the partly or completely absence of X chromosome.More than 20 percent of patients with Turner's Syndrome have congenital heart defect.Bicuspid aortic valve and coarctation of the aorta are the most common cardiovascular malformations in Turner's syndrome patients.

In this case,the patient's delayed femoral pulses indicate the coarctation of the aorta,which associated with a systolic murmur loudest below the left scapula.Because of the aorta coarctation,the BP in the lower extremities is lower than the upper.

Option A:A continuous machinery murmur at the left upper sternal border is associated with a patent ductus arteriosus（PDA）.

Option B:A harsh holosystolic murmur at the left lower sternal border is associated with a ventricular septal defect （VSD）.

Option C:A single, loud S2 is a common finding in transposition of the great arteries（Truncus Arteriosus,Hypoplastic left-heart Syndrome,Eisenmenger's Syndrome,Tetralogy of Fallot）.

Option E:A widely split, fixed S2 and systolic ejection murmur at the left upper sternal border is associated with an atrial septal defect （ASD）.

本病例由岚哥岚逸筠篁解析。