Total anomalous pulmonary venous return and Mayer–Rokitansky–Kuster–Hauser syndrome

doi:10.1016/j.ijcard.2007.05.083

International Journal of Cardiology

Volume 128, Issue 3, 29 August 2008, Pages e104-e106

https://doi.org/10.1016/j.ijcard.2007.05.083 Get rights and content

Abstract

We present an adult woman with total anomalous pulmonary venous return (TAPVR) and Mayer–Rokitansky–Kuster–Hauser syndrome that was diagnosed intraoperatively during a planned atrial secundum defect closure. Surgical repair of TAPVR was performed with good outcome.

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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Echocardiographic diagnosis of total anomalous pulmonary venous connection
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Adult patient with total anomalous pulmonary venous return undergoing successful pregnancy
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Early results and long term follow up after corrective surgery for total anomalous pulmonary venous return
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(1999)

There are more references available in the full text version of this article.

Cited by (3)

Partial anomalous pulmonary venous drainage and Mayer-Rokitansky-Küster-Hauser syndrome
2011, Archivos de Bronconeumologia
Anomalous vasculature in Mayer-Rokitansky-Kuster-Hauser syndrome
2010, Fertility and Sterility
Citation 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).
To report a case of unique anomalous pelvic vasculature in a woman with Müllerian agenesis.
Case report.
University hospital.
A 61-year-old woman with Müllerian agenesis and stage IIIc papillary serous ovarian cancer.
Surgery was performed, including bilateral salpingo-oophorectomy, omentectomy, right terminal ileum and right ascending colon resection, ileoascending/transverse colon reanastomosis, and debulking of pelvic plaques along bilateral ureters. The patient had subsequent chemotherapy with taxane and platinum agents and at the time of writing was in remission.
None.
Absence of the uterus was confirmed; rudimentary uterine horns and associated fallopian tubes and ovaries were noted bilaterally. The right ureter coursed below and behind the right common iliac artery, which did not bifurcate into external and internal arteries at the pelvic brim. Instead there was only an external iliac artery that gave off a pelvic branch just before the inguinal ligament. On the left, there was only an internal iliac artery that gave off an external branch after diving into the pelvis.
It is possible that the aberrant vasculature was partially responsible for the absence of the uterus. Preoperatively, it is important to recognize the possibility of abnormal pelvic vasculature in patients with Müllerian agenesis.
Two Cases of Mayer-Rokitansky-Kuster-Hauser Syndrome with Situs Inversus Totalis: Coincidence or Co-Existence?
2009, Journal of Pediatric and Adolescent Gynecology
Citation 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.
Congenital absence of uterus and vagina, the Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS), results from defective müllerian duct development during female embryogenesis; it is the second most common cause of primary amenorrhea. Atypical forms of MRKHS (type B) represent a heterogeneous group of disorders with associated anomalies of other organ systems which frequently includes the renal and skeletal systems and several individually occurring malformations.
We report two cases with MRKHS in which we diagnosed situs inversus totalis incidentally during radiologic examinations. Abdominal situs inversus describes the mirror-image arrangement of the intra-abdominal organs in the abdominal cavity and it is characterized by the presence of multiple congenital anomalies.
In this report we attempt to question whether the association between MRKHS and situs inversus is a rare feature of the müllerian dysgenetic spectrum or whether it is the result of random association.

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Letter to the EditorTotal anomalous pulmonary venous return and Mayer–Rokitansky–Kuster–Hauser syndrome

Abstract

Introduction

Section snippets

Case report

Discussion

Int J Cardiol

Am Heart J

Am Heart J

Early results and long term follow up after corrective surgery for total anomalous pulmonary venous return

Eur J Cardiothorac Surg

Letter to the Editor
Total anomalous pulmonary venous return and Mayer–Rokitansky–Kuster–Hauser syndrome