Abstract
Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome represents a spectrum of Müllerian duct anomalies. MRKH type I involves isolated agenesis of the uterus and vagina, while MRKH type II involves extra-genital defects most commonly affecting the skeletal, renal, cardiovascular and auditory systems with functional ovaries along with agenesis of the uterus and vagina. Case description: A 19-year-old female presented with exertional dyspnoea, fatigue and intermittent palpitations for the last 2 years. Clinical evaluation revealed a classic machinery murmur at the left second intercostal space, suspecting the diagnosis of patent ductus arteriosus (PDA), which was confirmed by two-dimensional echocardiography. She also presented with primary amenorrhea, for which an ultrasound of the abdomen and pelvis was done, which showed a rudimentary uterus and absence of the upper third of the vagina with normal ovaries. Hence, a diagnosis of MRKH syndrome type II was made. A cardiac computed tomography scan revealed a persistent left superior vena cava (PLSVC), which is a rare association in an MRKH patient. There was also the presence of an extrarenal pelvis seen on a kidney, ureter, bladder (KUB) X-ray. Conclusion: This case highlights the rare association of MRKH syndrome type II with PDA, PLSVC, and the extrarenal pelvis, emphasising the need for comprehensive multisystem evaluation. These patients need effective counselling regarding sexual well-being and appropriate management of extra genital manifestations.