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

Abstract

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.

A Rare Combination of Complex Congenital Heart Disease with Acquired Rheumatic Valvular Heart Disease

“…[8][9][10] Association of RHD with PDA is more uncommon and found only in a few case reports. 11,12 Association of multiple conditions such as, RHD with TOF and PDA with PLSVC was not found before in available literature by this group of researchers, and this may be the index case of such a combination of features.…”

Silent patent ductus arteriosus incidentally found before balloon mitral valvotomy for severe rheumatic mitral stenosis

“…following a BMV). Patra et al reported a case with rheumatic MS, large PDA, multiple VSDs, and Eisenmneger's syndrome in which the authors contemplated performing a BMV to decrease PA pressure and thus the right to left shunt [3]. However, the procedure could not be performed due to lack of consent by the patient.…”

“…Among shunt lesions, atrial septal defects (ASD) are more commonly associated with RHD, while post-tricuspid shunts such as patent ductus arteriosus (PDA) and ventricular septal defects (VSD) are relatively uncommon. Previous associations of rheumatic mitral stenosis (MS) with PDA have invariably been in the setting of a large defect with anecdotal reports of surgical closure of the PDA being reported [1][2][3]. The physiologic and clinical consequences of such an association are essentially governed by the underlying pulmonary vascular resistance which chiefly depends on the size of the PDA and severity of MS.…”