Dataset Information

Obstetric and Neonatal Outcome of Pregnancy in Carney Complex: A Case Report.

ABSTRACT: Background: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome with autosomal dominant inheritance. Affected individuals present with mucocutaneous lentigines/blue nevi, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. Mutations in PRKAR1A have been identified as genetic cause of the disease. Here, we report on pregnancy, delivery and puerperium in a woman with genetically confirmed CNC and her newborn. Case: The 31 year-old gravida 5 para 1 with CNC was referred at 26 weeks of gestation. Adrenocorticotropin-independent hypercortisolism, hyperglycemia, hypertension, low serum potassium, and osteoporotic fractures were present. Treatment with metyrapone, a reversible 11-beta-hydroxylase inhibitor, was initiated. The maternal condition improved, and a 5 weeks' pregnancy prolongation could be achieved. Elective repeat cesarean section was performed at 31 weeks of gestation for recurrent vaginal bleeding. The neonate developed transient hyponatremia necessitating hydrocortisone substitution for 2 weeks. Conclusion: In our case, treatment of CNC-associated hypercortisolism in pregnancy with metyrapone was effective. Maternal side effects did not occur. The newborn presented with transient hypocortisolism most likely due to transplacental drug effect. Our case illustrates that the treatment of rare diseases in pregnancy represents a challenge requiring interdisciplinary team work.

SUBMITTER: Ralser DJ

PROVIDER: S-EPMC7225262 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Obstetric and Neonatal Outcome of Pregnancy in Carney Complex: A Case Report.

Ralser Damian J DJ Strizek Brigitte B Kupczyk Patrick P Stoffel-Wagner Birgit B Altengarten Julia J Müller Andreas A Woelfle Joachim J Gembruch Ulrich U Klingmueller Dietrich D Merz Waltraut M WM Paschkowiak-Christes Anke A

Frontiers in endocrinology 20200508

Background: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome with autosomal dominant inheritance. Affected individuals present with mucocutaneous lentigines/blue nevi, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. Mutations in PRKAR1A have been identified as genetic cause of the disease. Here, we report on pregnancy, delivery and puerperium in a woman with genetically confirmed CNC and her newborn. Case: The 31 year-old gravida ...[more]

PMID: 32457700

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Project description:INTRODUCTION: Carney complex is a multiple neoplasia syndrome involving cardiac, endocrine, neural and cutaneous tumors with a variety of pigmented skin lesions. It has an autosomal dominant mode of inheritance. Approximately 7% of cardiac myxomas are related to the Carney complex. Myxomas that occur as part of the Carney complex affect both sexes with equal frequency. Cardiac myxomas with Carney complex are reported mostly in the left side of the heart and are less common on the right side. As per our review, this is the first reported case of Carney complex with right ventricle cardiac myxoma. CASE PRESENTATION: We present a rare case of recurrent cardiac myxoma in a patient later diagnosed to have Carney complex. A 46-year-old Caucasian man with a history of thyroid hyperplasia came to out-patient cardiology department with new onset atrial fibrillation. A transthoracic echocardiogram revealed a right ventricular mass attached to his interventricular septum, which was later seen on a transesophageal echocardiogram and cardiac magnetic resonance imaging. He underwent resection of the ventricular mass which on pathology revealed myxoma. He later developed skin lesions, pituitary adenoma and Sertoli cell tumor suggesting Carney complex. Two years later he developed a new mass within his right atrium which was later resected. CONCLUSIONS: Carney complex is a rare autosomal dominant disease with variable penetrance. Since it involves multiple organs, patients diagnosed with Carney complex should undergo serial endocrine workup, neural assessments, echocardiograms and testicular ultrasounds. Of the total number of cases of Carney complex, 65% are linked to PRKAR1A gene mutation. It is important for clinicians to be cognizant of a link between cardiac myxoma and Carney complex. The use of multi-imaging modalities allows better delineation of the mass before planned resection. Carney complex-related cardiac myxoma comprises 7% of all cardiac myxomas. Right ventricular cardiac myxomas are rare. This case report is the first to describe right ventricular myxoma with Carney complex.

Project description:BackgroundPre-pregnancy health and care are important for the health of the future generations. Smoking during pregnancy has been well-researched and there is clear evidence of harm. But there has been little research on the health impact of planning for pregnancy. This study aims to investigate the independent effects of pregnancy planning and smoking during pregnancy on neonatal outcome.MethodsThis analysis made use of data from the UK Millennium Cohort Study. The study sample consisted of 18,178 singleton babies born in UK between 2000 and 2001. The neonatal outcomes of interest were low birthweight (<2.5 Kg) and pre-term birth (<37 completed weeks gestation). Logistic regression was used to estimate the association between pregnancy planning and/or smoking and neonatal outcome. Adjusted odds ratios were used to calculate population attributable risk fractions (PAFs).Results43% of mothers did not plan their pregnancy and 34% were smoking just before and/or during pregnancy. Planners were half as likely to be smokers just before pregnancy, and more likely to give up or reduce the amount smoked if smokers. Unplanned pregnancies had 24% increased odds of low birth weight and prematurity compared to planned pregnancies (AORLBW1.24, 95% CI 1.04-1.48; AORPREM1.24, 95% CI 1.05-1.45), independent of smoking status. The odds of low birth weight for babies of mothers who were smoking just before pregnancy was 91% higher than that of mothers who were not (AORLBW1.91, 95% CI 1.56-2.34). Women who quit or reduced the amount smoked during pregnancy lowered the risk of a low birth weight baby by one third (AORLBW0.66, 95% CI 0.51-0.85) compared with women whose smoking level did not change. Smaller effects were found for prematurity. If all women planned their pregnancy and did not smoke before or during pregnancy, 30% of low birthweight and 14% of prematurity could, in theory, be avoided.ConclusionsPlanning a pregnancy and avoiding smoking during pregnancy has clear, independent, health benefits for babies. Quitting or reducing the amount smoked during pregnancy can reduce the risk of low birthweight.

Dataset Information

Obstetric and Neonatal Outcome of Pregnancy in Carney Complex: A Case Report.

Publications

Obstetric and Neonatal Outcome of Pregnancy in Carney Complex: A Case Report.

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