Recurrent Stress Cardiomyopathy: A Rare Variant in a Young Patient with Undiagnosed Pheochromocytoma.
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ABSTRACT:
SUBMITTER: Lembo R
PROVIDER: S-EPMC8195023 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Stress cardiomyopathy (SCMP) is characterized by a transient left ventricular dysfunction associated with apical ballooning and compensatory hyperkinesias of the basal segments after emotional or physical stress, but inverted or mid-ventricular variants of SCMP have also been described. Although catecholamine excess has been suggested as a possible pathophysiologic mechanism of SCMP, the etiology of SCMP is still unknown. Here, we report a case of inverted type of SCMP with clinical presentation mimicking acute coronary syndromes. The cause or precipitating stressor was unclear initially, but pheochromocytoma has been demonstrated as a cause of SCMP during clinical follow-up at out-patient clinic in the present case. Catecholamine-producing tumors should be included in the evaluation or management of SCMP, even though initial clinical manifestations are not suggestive for pheochromocytoma.
| S-EPMC4096669 | biostudies-literature
Project description:Takotsubo's syndrome (TS) is an acute, transient cardiomyopathy occurring secondary to physical or emotional stressors through catecholamine excess. Secretory pheochromocytomas have been previously implicated in cases of TS (PTS), however, often present atypically, are associated with reoccurrence, and have higher rates of complications. We describe the case of a 70-year-old female who presented central chest pain, hypotension and electrocardiogram changes on a background of a 6-month prior episode of resolved Takotsubo's with unknown cause. After progressing to cardiogenic shock with biventricular failure, computerized tomography coronary aortogram revealed an incidental adrenal mass, later proven to be a secretory pheochromocytoma on biochemistry and subsequent histology. PTS has been associated with recurrence and rarely presents as cardiogenic shock. This case highlights the complexity of TS presentations and complications and the diagnostic delays that may occur in PTS.
| S-EPMC9235020 | biostudies-literature
Project description:BackgroundStress-induced cardiomyopathy (SIC) is a poorly understood condition associated with periods of emotional and physical stress. The clinical approaches for management of SIC are supportive and reactive to patient symptoms.ObjectiveTo utilize next-generation exome sequencing to define genetic variation associated with, and potentially responsible for, this disease.MethodsWe performed exome sequencing of 7 white female patients with SIC. Filtering of the identified variants was performed to limit our investigation to those sequences that passed quality control criteria, were rare or novel, were determined algorithmically to have high impact on the associated protein, and were within regions of high species conservation. All variants were verified by using Sanger sequencing.ResultsExome-sequencing analysis revealed that each patient carried predicted deleterious variants affecting known cardiomyopathy genes. In each case, the identified variant was either not previously found in public human genome data or was previously annotated in a database of clinical variants associated with cardiac dysfunction.ConclusionPatients with SIC harbor deleterious mutations in established cardiomyopathy genes at a level higher than healthy controls. We hypothesize that patients at highest risk for SIC likely live in a compensated state of cardiac dysfunction that manifests clinically only after the myocardium is stressed. In short, we propose that SIC is another example of an occult cardiomyopathy with a distinct physiological trigger and suggest that alternative clinical approaches to these patients may be warranted.AbbreviationsCADD, Combined Annotation Dependent DepletionFPKM, fragments per kilobase pair of exon per million fragments mappedNHLBI GO ESP, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing ProjectPCR, polymerase chain reactionSIC, stress-induced cardiomyopathy.
| S-EPMC4871739 | biostudies-literature
Project description:Hereditary transthyretin-related amyloidosis (ATTR, MIM #105210), also previously known as familial amyloidotic polyneuropathy, is one of the most life-threatening types of amyloidosis. ATTR is inherited in autosomal dominant mode with variable penetrance. If untreated, it is a relentless and lethal disease. Patients typically present with polyneuropathy, carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal features, occasionally accompanied by vitreous opacities and renal insufficiency. Frequency of transthyretin (TTR)-related cardiac amyloidosis amongst Chinese populations is unknown. We report here a 63-year-old Chinese man suffering from TTR-related cardiac amyloidosis presented with exclusive cardiomyopathy. He had no other systemic involvement and no significant family history. Echocardiography revealed severe global myocardial impairment and left ventricular ejection fraction of 35%. Serum kappa-to-lambda ratio was normal. Genetic test detected a heterozygous TTR variant, NM_000371.3:c.425T > C p.(Val142Ala). To our knowledge, this is the first case of TTR-related cardiac amyloidosis caused by p.Val142Ala mutation reported in Asian patient. <Learning objective: This case highlights the importance to exclude transthyretin-related cardiac amyloidosis as a cause of extensive cardiomyopathy, despite the late disease onset and lack of systemic amyloidosis. High clinical suspicion and genetic testing is the key for early diagnosis.>.
| S-EPMC6306574 | biostudies-literature
Project description: Not available
| S-EPMC6710850 | biostudies-literature
Project description:Dilated cardiomyopathy (DCM) in infants and children can be partially explained by genetic cause but the catalogue of known genes is limited. We reviewed our database of 41 cases diagnosed with DCM before 18 years of age who underwent detailed clinical and genetic evaluation, and summarize here the evidence for mutations causing DCM in these cases from 15 genes (PSEN1, PSEN2, CSRP3, LBD3, MYH7, SCN5A, TCAP, TNNT2, LMNA, MYBPC3, MYH6, TNNC1, TNNI3, TPM1, and RBM20). Thirty-five of the 41 pediatric cases had relatives with adult-onset DCM. More males (66%) were found among children diagnosed after 1 year of age with DCM. Nineteen mutations in 9 genes were identified among 15 out of 41 patients; 3 patients (diagnosed at ages 2 weeks, 9 and 13 years) had multiple mutations. Of the 19 mutations identified in 12 families, mutations in TPM1 (32%) and TNNT2 (21%) were the most commonly found. Of the 6 patients diagnosed before 1 year of age, 3 had mutations in TPM1 (including a set of identical twins), 1 in TNNT2, 1 in MYH7, and 1 with multiple mutations (MYH7 and TNNC1). Most DCM was accompanied by advanced heart failure and need for cardiac transplantation. We conclude that in some cases pediatric DCM has a genetic basis, which is complicated by allelic and locus heterogeneity as seen in adult-onset DCM. We suggest that future prospective comprehensive family-based genetic studies of pediatric DCM are indicated to further define mutation frequencies in known genes and to discover novel genetic cause.
| S-EPMC3072577 | biostudies-literature
Project description:IntroductionDobutamine stress testing is a commonly used modality in detecting and estimating the prognosis in coronary artery disease (CAD). Although it is well tolerated by most patients, adverse events have been reported. Rarely, transient wall motion abnormalities can occur in the absence of obstructive CAD to suggest stress cardiomyopathy.Case presentationWe report a 48-year-old female with intermittent chest pain. Her physical exam, cardiac enzymes and transthoracic echocardiogram were unremarkable. She underwent dobutamine stress echocardiogram to rule out obstructive CAD. After 40 micrograms (mcg)/kg/minute and 0.5 mg atropine, she complained of intense chest pain and became hypertensive. Stress echocardiogram demonstrated mid-anterior and mid-septal hypokinesis. Emergent coronary angiogram demonstrated normal coronaries. Left ventricular angiogram in the right anterior oblique projection revealed mid-ventricular ballooning during systole with apical and basal hypercontractility. Patient demonstrated excellent recovery with expectant management.ConclusionsThe mechanism of mid-variant of Dobutamine-induced stress cardiomyopathy remains unclear. We think that multiple mechanisms are involved and this risk should be considered in patients with comorbid psychiatric conditions and with use of centrally acting stimulants.
| S-EPMC4584264 | biostudies-literature
Project description: Not available
| S-EPMC7283926 | biostudies-literature
Project description:BackgroundPheochromocytoma and reninoma represent two rare diseases causing hypertension. We here reported a rare case of association between type 2 multiple endocrine neoplasia related bilateral pheochromocytoma and reninoma. Moreover, polymorphism of ACE gene, which is known to be related to an increase of cardiovascular risk, has been found in the same patient.Case presentationA 24 year old Caucasian man came to our attention for severe hypertension, resistant to anti-hypertensive polytherapy. At the age of twenty he had undergone total thyroidectomy with lymphadenectomy for medullary carcinoma. Genetic testing showed a RET mutation of codon 918 (exon 16) not documented in other family members. During the follow-up, a progressive increase of urinary metanephrines and catecholamines was recorded. Our evaluation confirmed the presence of severe hypertension (220/140 mmHg) and a severe increase of urinary catecholamines and metanephrines. Due to the presence of hypokalemia, other causes of hypertension were researched leading to the discovery of hyperreninemia (236 ?UI/ml) with mild hyperaldosteronism, and a mild increase of the renal artery resistance at ultrasound. An abdominal MRI showed multiple adrenal masses and a right kidney nodular lesion of about 2 cm. The patient underwent bilateral adrenalectomy and right nephrectomy, and histology confirmed the presence of bilateral pheochromocytoma and right reninoma. The post-surgery laboratory evaluation showed a rapid reduction of the urinary metanephrines while plasma renin level remained low in spite of the bilateral adrenalectomy without any mineralocorticoid supplementation. To further investigate these unusual feature, we performed genetic testing for the ACE gene, which revealed the presence of ACE I/D polymorphism.ConclusionThis unique report describes the association between two rare causes of hypertension in the same patient. Furthermore, the absence of requirement of mineralocorticoid supplementation in spite of bilateral adrenalectomy, represent an uncommon and interest finding.
| S-EPMC4472263 | biostudies-literature
Project description:Clinical manifestations of pheochromocytoma (PCC) frequently are not specific and can be attributed to other pathologies. The most dreaded manifestation is catecholamine-induced cardiomyopathy. A prompt diagnosis, sometimes extremely problematic due to associated conditions of the patient, is essential for clinical outcomes, because early resection of PCC may prevent progression to irreversible cardiac remodelling. We present a case of 47-year-old woman with suspected acute coronary syndrome but intact coronary vessels. Electrocardiogram examination showed ST depression suggestive for coronary ischaemia. Echocardiography revealed reduced ejection fraction of left ventricle and global hypokinesis. Abdominal ultrasound examination determined multiple cysts in liver and both kidneys. The patient had unclear transient states of sudden sweating, pale skin, nausea, and vomiting accompanied by hypertensive crisis. Fractioned urinary metanephrines were considerably increased. Contrasted computed tomography of abdominal cavity and pelvis revealed in both liver lobes many cysts; both kidneys showed multiple cysts too; in the right adrenal gland was detected a filling defect. Computed tomography findings have established diagnosis of adrenal PCC of right gland associated with liver and kidney polycystic disease. Phechromocytoma, with primary manifestation as catecholamine-induced cardiomyopathy, in patient with polycystic kidney and liver disease could represent a really challenging diagnosis. Clinical manifestations of PCC frequently are not specific and can be explained by associated pathologies. This is the second case of adrenalectomy due to PCC associated with polycystic kidney and liver disease reported in the medical literature.
| S-EPMC6601177 | biostudies-literature