Spectrum of cutaneous and soft tissue lesions in two Carney complex patients-adnexal induction versus authentic adnexal neoplasms.

Two unusual Carney complex patients are described. In one of them, several cutaneous biopsies revealed myxoid lesions that were rather more close to authentic adnexal neoplasms with myxoid stroma than to a "myxoma with an epithelial component." These included lesions resembling trichofolliculoma, infundibular cyst, and trichodiscoma. Additionally, 1 soft tissue myxoma was unique in the sense that it greatly resembled a cardiac myxoma, begging the question whether this could represent an embolus from the patient's cardiac myxoma. Given the large size and complexity and heterogeneity of the cutaneous lesions, the authors suggest that these may represent authentic cutaneous neoplasms accompanied by myxoid stroma and not adnexal elements induced by the stroma. However, the latter mechanism is well recognized and demonstrated by our second patient in whom adnexal-type elements in the cutaneous lesion were clearly induced by the myxoid stroma but were unusually complex by manifesting panfollicular and also sebaceous differentiation.

Mild to moderate functional tricuspid regurgitation: retrospective comparison of surgical and conservative treatment.

Background. Unoperated severe tricuspid regurgitation (TR) leads to the right ventricle (RV) failure. We wanted to determine if there was near-term postoperative progression of noncorrected mild to moderate functional TR in patients who underwent mitral valve surgery for chronic significant mitral regurgitation (MR) and if RV size and function were affected. Methods and Results. We compared two groups of patients retrospectively. In the first group (TVA+, n = 45), tricuspid valve annuloplasty (TVA) had been performed in conjunction with either mitral valve replacement (MVR) or mitral valve repair (MVP). The second group (TVA-, n = 22) underwent MVP or MVR without TVA. TVA+ group revealed a significant decrease in TR and right ventricle diameter. In the TVA- group, 7 patients (32%) showed a significant progression, by one or more grades, of noncorrected TR together with dilatation and decreased ejection fraction of the right ventricle. Conclusions. Tricuspid annuloplasty performed concurrently with MVP or MVR can prevent subsequent progression of tricuspid regurgitation along with right ventricular dilatation and systolic dysfunction in the near-term postoperative period.

Carney complex: a clinicopathologic and molecular biological study of a sporadic case, including extracutaneous and cutaneous lesions and a novel mutation of the PRKAR1A gene.

BACKGROUND: Carney complex (CNC) is an autosomal dominant disorder associated with multiple neoplasms. OBJECTIVE: We report a case of a 40-year-old Caucasian man with a sporadic form of CNC. METHODS: This is a clinicopathologic description and molecular biological study with an emphasis on histopathologic findings. RESULTS: The patient presented with multiple cutaneous myxomas, cardiac myxomas, and spotty pigmentation at typical sites. Additionally, a blue nevus, a lipoma, multiple calcifications in both testes, and hypoechogenic areas suspected of being adenomas in the thyroid gland were found. Microscopically, the 2 cardiac and 6 cutaneous myxomas studied manifested a typical appearance, being composed of scattered polygonal, stellate, plump and/or spindle cells in a mucinous matrix containing small, sometimes dilated blood vessels. Of the 6 cutaneous myxomas, only in one lesion was there an abnormal epithelial component (tiny basaloid buds and a horn cyst). Molecular biologic study revealed a heterozygous shift mutation c.796dupA in exon 10 of the PRKAR1A gene. Physical examination and genetic testing of family members (both parents and two brothers) for the PRKAR1A mutation were negative, as was analysis of the peripheral blood of 110 randomly selected, unrelated healthy individuals for the above mutation. These findings suggest sporadic disease and a novel mutation in our patient. LIMITATIONS: None. CONCLUSION: Herein we report a case of sporadic CNC in which a novel mutation in PRKAR1A was identified.

Large artery stiffness and pulse wave reflection: results of a population-based study.

OBJECTIVE: To assess the determination of large artery stiffness and pulse wave reflection in a population sample. METHODS: A 1% random population sample aged 25-65 years was selected in nine districts of the Czech Republic for a survey off cardiovascular risk factors (Czech post-MONICA). Of 891 individual screened in the Pilsen centre in the year 2000, arterial properties were studied in 291 (143 males and 148 females) using the Sphygmocor device. Pulse wave velocity (PWV) in the aorta and in the lowe limbs was measured to assess large artery stiffness. Wave reflection was assessed from radial pulse wave analysis; the main estimated parameter was peripheral augmentation index (PAI) defined as P2/P1 = ratio of pulse pressures measures at the peaks of secondary and primary waves. RESULTS: Aortic PWV increased with age (p < 0.001) and was similar in both sexes. Lower extremity PWV increased with age in women, but not in mean, and its mean value was higher in men (p < 0.001). PAI was higher in females in all age groups (p < 0.001) and increased steeply with age in both sexes (p < 0.001). PAI was increased in current smokers (p < 0.001 in both sexes) and in male smokers, the reflected wave returned earlier than in male non-smokers (p < 0.05). Correlation coefficient of PAI with aortic PWV was 0.22 (p < 0.01), and with central augmentation index (CAI), derived from PAI by mathematical transformation, was 0.94 (p < 0.001). Multiple regression analyses, where age, sex, systolic blood pressure (SBP), total cholesterol level, smoking, glucose level and body mass index were included as independent variables, were performed. PAI was better predicted than aortic or lower extremity PWV is these models (41%, 14% and 10% of variance explained, respectively). Age, female sex, smoking, SBP and total cholesterol predicted PAI level whereas age, SBP and glucose level were the main determinants pf aortic PWV. CONCLUSION: Of the studied arterial parameters, PAI showed the closest association with cardiovascular risk factors. The correlation between PAI and aortic PWV was loose, and both parameters had practically different determinants. PAI, which is obtained by direct measurement above radial artery, was practically identical with the mathematically derived CAI in the studied population sample, and therefore, it is a suitable parameter for studying the phenomenon of wave reflection.