Syndromic tetralogy of Fallot - A case report

摘要

Introduction: Tetralogy of Fallot (TOF) is the most common causeof cyanotic congenital heart disease in ventricular septal defectand pulmonary stenosis physiology. TOF is associated with manysyndromes, the most common being Down syndrome, Velocardiofacialsyndrome, Holt Oram syndrome, and Poland's syndrome.Incidence of VACTERL syndrome is rare compared to the abovementioned syndromes.Case report: A 12-year-old boy was brought with complaints ofshortness of breath and palpitations on exertion. He had history ofsquatting episodes. Prenatal and perinatal history in mother wasnormal. He attained developmental milestones on par with hispeers. His weight was <2SD for his age, mid arm circumference –13 cm. On examination he had dysmorphic features – left absentthumb, kyphoscoliosis, low set ears, low hair line, hypoplasticmandible,deciduous teeth, radial hypoplasia with pandigital clubbing, andJVPwas normal in height andwaveform.Cardiovascular examination– LV apex, parasternal heave 3/3, systolic thrill left 2,3 ICS.S1 normal,S2 normal split, Grade 5/6 MSM at left 2nd and 3rd ICS selectiveconduction to left side. Hewas evaluated. Hb 13.5 gm/dl, WBC countswere within normal limits. The following are noted, ECG – normalsinus rhythm; extreme right axis deviation 1508; RVH with strain;KatzWachtel phenomenon; Chest X ray – oligemic lung fields; and nocardiomegaly. ECHO showed situs solitus, large subaortic ventricularseptal defect with overriding of aorta <50%, with severe valvularpulmonic stenosis and subvalvular infundibular dynamic obstruction.The gradients across the pulmonic valve were 92/63 mmHg andat the infundibulum was 53/14mmHg. Pulmonic valve was doming.RVH was present with free wall thickness of 0.7 cm. Based on thedysmorphic features, he was categorized as syndromic TOF.Discussion: VACTERL is an association of nonrandom occurrenceof Vertebral, Anorectal anomalies, Cardiac anomalies, Tracheoesophagealanomalies, Radial hypoplasia/renal anomalies, andlimb defects. All features need not present at a single time fordiagnosis. According to Genetic Home Reference and NationalLibrary of Medicine (ghr.nlm), three anomalies ought to be presentfor labelling a patient to have VACTERL association. The presentpatient had Vertebral anomalies (Scoliosis), Cardiac anomalies(TOF), Renal anomalies (left kidney shrunken), Radial hypoplasia,absent thumb. The close differential diagnosis for this patient wasHolt Oram Syndrome, it can be excluded in individuals with congenitalmalformations involving – ulnar ray only, kidney, vertebra,craniofacies, auditory system (hearing loss or ear malformations),lower limb, anus, or eye.Clinical implications: TOF association with VACTERL is rare andhence reported.