[Mayer-Rokitansky-Küster-Hauser syndrome with aortic isthmus stenosis]. / Mayer-von Rokitansky-Küster-Hauser Syndrom mit Aortenisthmusstenose.

HISTORY AND CLINICAL FINDINGS: A 32-year-old woman with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) was admitted to our out-patient department for further assessment of chest pain and arterial hypertension. At the age of three months the patient had undergone cardiovascular surgery, but further details were not known. Arterial blood pressure was 180/110 mmHg. Noninvasive blood pressure measurements revealed a difference of 20 mmHg between the upper and lower limbs. INVESTIGATIONS: Echocardiography showed left ventricular concentric hypertrophy. The chest X-ray revealed notching of the ribs. Computed tomography of the chest showed a widened aortic root. The magnetic resonance angiography demonstrated coarctation of the aorta with large collaterals. TREATMENT AND COURSE: The patient had a resection of the aortic coarctation. Postoperatively the blood pressure returned to normal values. CONCLUSION: To our knowledge this is the first report of coarctation of the aorta in a patient with MRKHS. We suggest that patients with MRKHS and arterial hypertension should be screened for cardiovascular malformations. Because they are noninvasive and diagnostically accurate, ordinary blood pressure measurements and NMR-angiography are valuable tools in the diagnosis of cardiovascular malformations.