Letter to the EditorTotal anomalous pulmonary venous return and Mayer–Rokitansky–Kuster–Hauser syndrome
Introduction
Total anomalous pulmonary venous return (TAPVR) accounts for 1–3% of all congenital heart disease [1]. Most patients have no symptoms at birth, yet the majority die within the first year of life if surgical repair is not implemented [2]. Mayer–Rokitansky–Kuster–Hauser syndrome (MRKHS) is a malformation of the female genitals occurring in one in 4000 female live births [3], characterized by normal cariotype (46, XX), partial or total absence of the vagina and a variety of Mullerian duct anomalies, with aplasia of the uterus being the most common finding [4]. Here, we present an adult woman with MRKHS that was diagnosed intraoperatively with TAPVR during a planned atrial secundum defect (ASD) closure.
Section snippets
Case report
A 35year old woman was evaluated for worsening dyspnea. Her vital signs were normal. She was on normal sinus rhythm. A systolic heart murmur and splitted second heart sound were auscultated. A transesophageal echocardiography (Fig. 1) revealed a 3.1cm atrial septal defect (ASD) of the ostium secundum type, with predominant flow from left to right, moderate tricuspid regurgitation, mild pulmonary stenosis and pulmonary artery pressure estimated around 40mmHg. The patient had primary amenorrhea,
Discussion
MRKH syndrome should be regarded as having not only a genital malformation syndrome, but rather a complex syndrome with approximately 60% of patients having associated malformations, mainly involving the skeletal (10–20%) and renal/urinary (10%) systems [5]. The cause of the syndrome is unknown. The average age at diagnosis is 16 years old and the most common primary symptom is amenorrhea [6]. Cardiac abnormalities have been described in about 1% of patients including ventricular septal defect,
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Cited by (3)
Partial anomalous pulmonary venous drainage and Mayer-Rokitansky-Küster-Hauser syndrome
2011, Archivos de BronconeumologiaAnomalous vasculature in Mayer-Rokitansky-Kuster-Hauser syndrome
2010, Fertility and SterilityCitation Excerpt :Approximately 1% of Müllerian agenesis cases have cardiac abnormalities, the most common being pulmonary valve stenosis, mitral regurgitation, ventricular septal defect, patent ductus arteriosus, truncus arteriosus, and Holt-Oram syndrome (6–8). One study described MRKHS and total anomalous pulmonary venous return along with bilateral ectopic pelvic kidneys (9). Persistent sciatic artery in association with absent left external iliac and femoral arteries in Müllerian agenesis has also been reported (10), as has absence of the umbilical artery with a solitary pelvic kidney (11).
Two Cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with Situs Inversus Totalis: Coincidence or Co-Existence?
2009, Journal of Pediatric and Adolescent GynecologyCitation Excerpt :They also suggested that a search for associated anomalies including cardiac defects is indicated in all such patients. Vasquez et al27 reported an adult woman with total anomalous pulmonary venous return and MRKHS that was diagnosed intra-operatively during a planned atrial secundum defect closure. Oppelt et al23 investigated the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKHS in their retrospective study in 53 MRKHS patients.