Juvenile severe mitral stenosis predisposing Eisenmenger syndrome in a case with ventricular septal defect, patent ductus arteriosus, coarctation of aorta & hypoplastic aortic arch: Report of first case of rare association.

We are reporting the first case of rare association between multiple congenital cardiac malformations with severe rheumatic mitral stenosis which is an acquired structural cardiac disease. A 16 years old female patient presented with progressive dyspnoea & cyanosis for the last one month with past history of recurrent pneumonia since infancy. Physical examination revealed presence of cyanosis, grade I clubbing, radio-radial & radio-femoral delay, loud & single second heart sound, apical long mid diastolic murmur and left parasternal ejection systolic murmur. Transthoracic echocardiography revealed severe rheumatic mitral stenosis, multiple ventricular septal defects (VSD) with bidirectional shunt, hypoplastic aortic arch, Coarctation of aorta and severe pulmonary hypertension. Transesophageal echocardiography revealed the same findings along with the presence of moderate mitral regurgitation and 9 mm perimembranous VSD extending into muscular septum. Cardiac catheterization study confirmed the echocardiographic findings and demonstrated large patent ductus arteriosus (PDA). We have planned for high-risk percutaneous transmitral commissurotomy (PTMC) for this patient to decrease the back pressure on pulmonary vasculature. So that right to left shunt will be decreased and cyanosis will also improve. But parents refused to give consent for PTMC. She was on treatment with regular penicillin prophylaxis, diuretics, sildenafil and infective endocarditic prophylaxis. We should be aware of this kind of complex association between congenital and acquired structure heart disease. Eisenmenger syndrome could also be a presentation of juvenile severe rheumatic mitral stenosis when it is associated with congenital shunt lesion like VSD/PDA in our case.