Tetralogy of Fallot with Holt-Oram syndrome: case report and review.

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Holt–Oram syndrome was first reported in 1960 by Mary Clayton Holt and Samuel Oram, who detected an atrial septal defect in members of four generations of a family which was associated with a congenital anomaly of the thumb which lay in the same plane as the fingers [1]. The most common congenital heart defect is the ostium secundum atrial septal defect (60 %), seen in patients with Holt–Oram syndrome followed by the ventricular septal defect. The other associated findings include hand malformations and conduction disturbances, originally described by Holt and Oram [2]. The two most common complex heart defects in HOS are atrioventricular canal defects and tetralogy of Fallot [3]. Recently, we came across a case of the right hand and forearm malformation with cyanosis, which was later identified as tetralogy of Fallot. A 3-year-old male child presented with fatiguability, bluish discoloration, and growth retardation, since 6 months of age. The patient also had a right hand malformation in the form of radial deviation at the wrist and cubitus valgus deformity of right upper limb and hypoplastic right thumb being in the same plane as fingers (Fig. 1a). None of the other family members was affected. Patient had cyanosis, which increased on crying and did not improve on 100 % oxygen inhalation. Grade II clubbing was also present. Apex beat was within midclavicular line at the fifth intercostal space. A systolic thrill was present at the upper left intercostal space. Right ventricular inflow pulsations were present. Ejection systolic murmur was heard at mid and upper left third intercostal space. A single second heart sound (S2) was heard. Right thumb was hypoplastic in comparison to left thumb. Right hand was deviated radially at the wrist with flexion deformity of the wrist. The rest of the systemic examination did not reveal any abnormality. Lab findings included haemoglobin—18 mg/dl, total white blood cell count—11,200/mm, platelet count—124,000/ mm, haematocrit—69 %, mean corpuscular volume—71 fl. Radiograph right hand showed hypoplastic proximal phalanx of thumb, hypoplastic distal radius, radial deviation of the right wrist (Fig. 1b). Chest radiograph posterior–anterior view revealed no cardiomegaly (cardiothoracic ratio \50 %), boot-shaped heart (Coeur en sabot), main pulmonary artery inconspicuous (concave), decreased pulmonary vascularity (Fig. 1c). Electrocardiogram showed right ventricular hypertrophy, right axis deviation, sinus rhythm (Fig. 1d). Two-dimensional echocardiography with colour Doppler showed situs solitus, levocardia, large perimembranous subaortic ventricular septal defect with 40 % aortic override with right to left shunt (Fig. 2a), aorto-mitral continuity present, hypoplastic left pulmonary artery, dilated right pulmonary artery, predominantly infundibular pulmonary stenosis with peak gradient of 50 mmHg (Fig. 2b), interatrial septum is intact, right-sided aortic arch, no patent ductus arteriosus or any other defect seen. Cardiac computed tomography (Fig. 2c) and cardiac catheterization findings are consistent with echocardiogram. We concluded from the above findings that this was a case of tetralogy of Fallot associated with Holt–Oram syndrome. The patient is advised corrective surgery for & Abhay Tidake abhaytidake@gmail.com