BACKGROUND

Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome caused by PRKAR1A gene mutation and  characterized by lentigines, myxomatous tumors and various endocrine neoplasms.

CASE PRESENTATION

This is a case of a 52-year-old male patient who underwent echocardiogram for intermittent palpitations and near-syncopal attack, which revealed a left atrial myxoma. The patient also exhibited multiple lentigines and had a history of histologicallyconfirmed papillary thyroid carcinoma. Surgical excision and subsequent histopathologic examination confirmed cardiac myxoma, fulfilling three major Stratakis criteria for CNC.

DISCUSSION

This case highlights the importance of a thorough history and physical examination with a strong understanding of the syndrome’s features being key to recognizing the disease. Increasing awareness and reinforcing knowledge of CNC are crucial for preventing misdiagnosis and ensuring effective management of this rare condition. To our knowledge, this is the first published case report of CNC in the Philippines, emphasizing the need for heightened regional awareness.

CONCLUSION

CNC may present with subtle or nonspecific symptoms and atypical tumor locations. Early recognition through a high index of suspicion, targeted imaging and a multidisciplinary approach is critical to optimize outcomes and guide family screening in this rare syndrome.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; Multiple Endocrine Neoplasia ; Carney Complex ; Myxoma ; Syndrome ; Neoplasms ; Mutation ; Lentigo ; Genes

BACKGROUND

Perimyocarditis due to inflammation of the pericardium and myocardium results in myocellular damage. Myocarditis, or myocardial inflammation, occurs after cardiac injury. Gallbladder edema, in the absence of cholecystitis, may occur in numerous conditions including cardiac inflammation.

CASE PRESENTATION

A 28-year-old previously healthy female presented with chest pain, orthopnea, exertional dyspnea and a history of fever. She also reported intermittent right upper quadrant pain. Physical exam revealed a pericardial friction rub. Electrocardiogram (ECG) showed sinus rhythm with nonspecific ST-T changes; troponin I was elevated. Echocardiography demonstrated segmental wall motion abnormalities, pericardial thickening and preserved systolic function. Initially managed as acute coronary syndrome, she was later diagnosed with perimyocarditis. On the second hospital day, she developed recurrence of right upper quadrant abdominal pain. Abdominal ultrasound revealed gallbladder edema with pericholecystic fluid, but no stones. Liver enzymes were elevated. Acalculous cholecystitis was considered and cholecystostomy offered instead due to aspirin therapy. However, repeat imaging showed resolution of cardiac and gallbladder findings, and surgery was deferred. Cardiac MRI postdischarge was unremarkable.

CONCLUSION

Perimyocarditis may present with gallbladder edema mimicking acalculous cholecystitis, potentially leading to unnecessary surgical intervention. This case emphasizes the importance of considering cardiac etiologies in atypical abdominal presentations.

Human ; Female ; Adult: 25-44 Yrs Old ; Acalculous Cholecystitis ; Research Report ; Pericardium ; Myocardium ; Myocarditis ; Inflammation

BACKGROUND

Blood pressure (BP) is a vital sign that is essential in the management of hypertension, thus, there is a need for accurate measurement of BP. This will allow for proper diagnosis and management of hypertension preventing cardiovascular morbidity and mortality among Filipino patients.

METHODOLOGY

This validation study utilized the US Association for the Advancement of Medical Instrumentation/European Society of Hypertension/International Organization for Standardization (AAMI/ESH/ISO) protocol for BP monitors. A total of eighty-five (85) participants had their BP measured using both the HEM 7156 and a validated aneroid sphygmomanometer. The same-sequential BP measurement was recommended to be used and a total of nine readings were collected per individual. The mean average of BP and standard deviation were extracted from the measurements. The AAMI/ESH/ISO recommends the use of certain criteria for individual BP readings (criterion 1) and individual participants (criterion 2). Appropriate statistical analysis was used for other demographic data.

RESULTS

The participants had an average age of 34 years, more than half were females, and not diagnosed with hypertension. Individuals who were diagnosed with hypertension had no other comorbidities and were on single pill only. The average arm circumference was 26.9 cm. Blood Pressure (BP) readings were adequate based on the protocol. Validity results showed that for criterion 1, systolic blood pressure (SBP) difference was 3.4 ± 7.4 mmHg, while diastolic blood pressure (DBP) was 2.0 ± 8.0 mmHg. The results for criterion 2 showed for SBP was 3.3 ± 5.3 mmHg, while DBP was 1.9 ± 6.6 mmHg. The results satisfied a passing grade on the validation protocol set by the AAMI/ESH/ISO.

CONCLUSION

This study showed that OMRON HEM 7156 is validated as a BP apparatus and may be recommended for Philippine use.

Human ; Hypertension

BACKGROUND Hypertension is the most common risk factor for cardiovascular disease in the Philippines. Despite the availability of antihypertensive medications that are effective, safe, and tolerated by Filipino patients, the numbers of uncontrolled hypertensives are still increasing. Several factors play in the poor control of blood pressure, particularly resistant hypertension and hyperactive sympathetic nervous system. Renal denervation therapy is a novel device that has been shown to lower blood pressure in patients with resistant and difficult-to-treat hypertension and is deemed safe in clinical trials. A Philippine Working Group composed of specialists in cardiology, hypertension, vascular surgery, and clinical epidemiology has come up with consensus statements in identifying patients who will benefit from the procedure. Locally, there is a need to have hypertension centers treating uncontrolled and resistant hypertension and offer renal denervation therapy to appropriate Filipino patients.
Blood Pressure

Objective. Several studies showed that genetic factors affect responsiveness to statins among different populations. This study investigated the associations of candidate genetic variants with poor response to statins among Filipinos.

Methods. In this unmatched case-control study, dyslipidemic participants were grouped into statin responders and poor responders based on the degree of reduction in LDL-c from baseline. DNA from blood samples were genotyped and analyzed. The association of candidate variants with statin response was determined using chi-square and logistic regression analysis.

Results. We included 162 adults on statins (30 poor responders as cases, 132 good responders as controls). The following variants are nominally associated with poor response to statin among Filipinos at a per-comparison error rate of 0.05: rs173539 near CETP (OR=3.05, p=0.015), rs1800591 in MTTP (OR=3.07, p=0.021), and rs1558861 near the BUD13-ZPR1-APOA5 region (OR=5.08, p=0.004).

Conclusion. Genetic variants near CETP, MTTP and the BUD13-ZPR1-APOA5 region are associated with poor response to statins among Filipinos. Further study is recommended to test the external validity of the study in the general Filipino population.

Lipids ; Hydroxymethylglutaryl-CoA Reductase Inhibitors

Background. Low levels of high-density lipoprotein cholesterol (HDL-c) is a well-recognized risk factor in the development of cardiovascular diseases. Associated gene variants for low HDL-c have already been demonstrated in various populations. Such associations have yet to be established among Filipinos who reportedly have a much higher prevalence of low HDL-c levels compared to other races.

Objective. To determine the association of selected genetic variants and clinical factors with low HDL-c phenotype in Filipinos.

Methods. An age- and sex-matched case-control study was conducted among adult Filipino participants with serum HDL-c concentration less than 35 mg/dL (n=61) and those with HDL-c levels of more than 40 mg/dL (n=116). Genotyping was done using DNA obtained from blood samples. Candidate variants were correlated with the low HDL-c phenotype using chi-squared test and conditional logistic regression analysis.

Results. Twelve single nucleotide polymorphisms (SNPs) were associated with low HDL-c phenotype among Filipinos with univariate regression analysis. The variant rs1260326 of glucokinase regulator (GCKR) (CT genotype: adjusted OR=5.17; p-value=0.007; TT genotype: adjusted OR=6.28; p-value=0.027) remained associated with low HDL-c phenotype, together with hypertension and elevated body mass index, after multiple regression analysis.

Conclusion. The variant rs1260326 near GCKR is associated with low HDL-c phenotype among Filipinos. Its role in the expression of low HDL-c phenotype should be further investigated prior to the development of possible clinical applications.

Cardiovascular Diseases ; Dyslipidemias ; Genetics ; Polymorphism, Single Nucleotide

Introduction: Lowering levels of low-density lipoprotein cholesterol (LDL-C) are proven to reduce cardiovascular risk. However, some individuals experience acute coronary events despite normal LDL-C levels. Recent studies have focused on modifiable lipoprotein targets, such as apolipoprotein B (apo-B) and apolipoprotein A-1 (apo A-1) and lipoprotein (a), as targets for therapy. Apo-B is the primary apolipoprotein of LDL-C representing total number of atherogenic particles. Apolipoprotein A-1 is the major component of HDL complex. This study will determine the prevalence of elevated apo-B and low apo A-1 among adult Filipinos with acute coronary syndrome (ACS). Methods: This is a cross-sectional study involving 95 patients with ACS admitted in a tertiary hospital from November 2015 to May 2016. Levels of apo-B, apoA-1, lipoprotein (a), total cholesterol, triglyceride, LDL-C, and high-density lipoprotein cholesterol (HDL-C) were measured within 24 hours upon admission. Results: Forty-eight (48%) percent of patients was diagnosed with Non ST-Elevation-ACS, 39% with ST-Elevation myocardial infarction (STEMI) and 13% with unstable angina.Thirtytwo (32%) percent were on low- to high-intensity statin treatment. The mean LDL-C, non-HDL-C, and HDL-C levels were 109 mg/dL, 135 mg/dL, and 36.89 mg/dL, respectively. The prevalence of elevated apo-B (mean=103.79 mg/ dL; target:<80 mg/dL) was 82%, while that of low apo A-1 (mean=119 mg/dL; target: >120 mg/dL for males, >140 mg/dL for females) was 63%. Lipoprotein (a) levels are high (mean = 48.51 nmol/L; normal:<35 nmol/L) in 42% of patients. Among those on statin therapy, the mean LDL-C was 85 mg/dl, but the mean apo B and lipoprotein (a) levels were elevated at 87.57 mg/dL and 41 nmol/L, respectively. Conclusion Elevated levels of apo B and lipoprotein (a) and low level of apo A-1 are highly prevalent in patients with ACS. Apo-B and lipoprotein (a) levels are likewise elevated among patients with normal LDL levels.
Acute Coronary Syndrome ; Apolipoproteins