Cardio-Oncology The Carney Complex Type I

Cardio-oncology is an important, expanding discipline. Although most developing programs address the cardiotoxicity of old and novel anticancer drugs, cardio-oncology expertise and experience are also needed for rare multiorgan diseases, which require interdisciplinary evaluation to provide optimal, timely care for patients and families. Carney complex type I is the paradigmatic example that cardiologists should consider when diagnosing cardiac myxoma and oncologists should consider when diagnosing endocrine, cutaneous, and neural myxomatous neoplasms, especially in patients demonstrating pigmented lesions of the skin and mucosae(1). The disease was first described as a “complex including myxomas, spotting pigmentation and endocrine over-reactivity” (Carney Complex 1 [CNC1], OMIM #160980). The diagnosis is made by the presence of 2 major criteria confirmed by histology, imaging, or biochemical testing, or 1 major and 1 supplemental criterion(2). The disease gene isprotein kinase cyclic adenosine monophosphate –dependent regulatory type I alpha (PRKAR1A) that maps at the 17q24.3 locus(3); genetic testing confirms the clinical diagnosis in probands and provides early diagnosis in younger relatives.

Source: Journal of the American College of Cardiology - October 18, 2016 Category: Cardiology Source Type: research