Vaginal Agenesis (Mayer-Rokitansky-Kuster-Hauser Syndrome) Presenting with Exertional Dyspnoea, Fatigue and Intermittent Palpitations.

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.

Learning points: Mayer-Rokitansky-Küster-Hauser (MRKH) Type II is a multisystem congenital syndrome that requires comprehensive evaluation. A multidisciplinary approach is essential, involving gynaecology, cardiology, nephrology and radiology.Rare cardiovascular anomalies can coexist with MRKH type II, like patent ductus arteriosus and persistent left superior vena cava (PLSVC). PLSVC may be asymptomatic in a patient, but it is important to know because it can make certain procedures more challenging, like pacemaker insertion, intra-cardiac device implantation, left-sided central line placement and cardiac surgeries. A card should be given to these patients in case they need such procedures.An extra-renal pelvis is a benign congenital condition which does not need treatment. Generally, it is asymptomatic, but sometimes it increases the risk of urinary tract infection (UTI) due to slowed urine flow, so such patients should be monitored for UTI and have renal function tests regularly.