The genetics of spontaneous coronary artery dissection: a scoping review.

BACKGROUND: Spontaneous coronary artery dissection (SCAD) is a multifactorial process that involves predisposing factors and precipitating stressors. Genetic abnormality has been implicated to play a mechanistic role in the development of SCAD. This systematic review aims to summarize the current evidence concerning the link between SCAD and genetic abnormalities. METHODS: We reviewed original studies published until May 2023 that reported SCAD patients with a genetic mutation by searching PubMed, Embase Ovid, and Google Scholar. Registries, cohort studies, and case reports were included if a definitive SCAD diagnosis was reported, and the genetic analysis was performed. Exclusion criteria included editorials, reviews, letters or commentaries, animal studies, meeting papers, and studies from which we were unable to extract data. Data were extracted from published reports. RESULTS: A total of 595 studies were screened and 55 studies were identified. Among 116 SCAD patients with genetic abnormalities, 20% had mutations in the COL gene, 13.70% TLN1 gene, and 8.42% TSR1 gene. Mutations affecting the genes encoding COL and TLN1 were most frequently reported (20 and 13.7%, respectively). Interestingly, 15 genes of this collection were also reported in patients with thoracic aortic diseases as well. The genetic commonality between fibromuscular dysplasia (FMD) and SCAD was also included. CONCLUSION: In this review, the inherited conditions and reported genes of undetermined significance from case reports associated with SCAD are collected. A brief description of the encoded protein and the clinical features associated with pathologic genes is provided. Current data suggested that the diagnostic yield of genetic studies for patients with SCAD would be low and routine genetic screening of such patients with no clinical features indicative of associated disorders remains debatable. This review can be used as a guide for clinicians to recognize inherited syndromic and nonsyndromic disorders associated with SCAD.

A Rare Occurrence of Spontaneous Coronary Artery Dissection in Elderly: Diagnostic Challenges and Clinical Implications.

Spontaneous coronary artery dissection (SCAD) is the ripping of the epicardial coronary artery wall without any trauma, coronary procedures, or rupture of atherosclerotic plaque. Intimal rip, intramural hematoma, and false lumen formation are the hallmarks of this disease, which may result in coronary blood flow obstruction and myocardial ischemia. The role of SCAD in acute coronary syndrome (ACS), and sudden death has come to light more and more, particularly in young females and those with few typical atherosclerotic risk factors. This study details a 65-year-old female with a history of hypertension, hyperlipidemia, asthma, and chronic kidney disease who presented with severe chest pain and elevated troponin levels. Upon investigation, spontaneous dissection of the left anterior descending artery (LAD) involving its mid and distal segments was identified. The present case highlights a rare occurrence of spontaneous coronary artery dissection (SCAD) in a demographic typically unaffected by the condition - females aged 65 years and over. The atypical presentation underscores the importance of reporting such cases to prevent oversight. This patient's case is particularly noteworthy as it deviates from the typical predisposing factors associated with SCAD, such as youth, pregnancy, or stressors. Additionally, the case is unique in that it presented both SCAD and imaging findings consistent with takotsubo cardiomyopathy, suggesting a complex cardiac pathology deserving of further study and consideration.

Black Cohosh: An Uncommon Culprit of Bradycardia in Postmenopausal Women.

The use of herbal supplements has become increasingly prevalent, with black cohosh (BC) gaining popularity for managing menopausal symptoms. However, reports of adverse effects associated with BC are limited. We present a case of bradycardia linked to prolonged BC ingestion. A 76-year-old postmenopausal woman who has been taking BC for years has had syncopal attacks multiple times during the past years associated with bradycardia with the heart rate dropping to 30 beats/minute with no identifiable cause. Discontinuation of BC resulted in a gradual resolution of bradycardia, highlighting a plausible association. There were no additional pharmacological or invasive interventions required.

Apical Hypertrophic Cardiomyopathy Presenting With Syncope in a Hispanic Woman: A Report of a Rare Case.

Yamaguchi syndrome or apical hypertrophic cardiomyopathy is a rare subtype of non-obstructive hypertrophic cardiomyopathy that is defined as the focused hypertrophy of the left ventricular apex. It is typically seen in Asian populations. Herein, we present a rare case of Yamaguchi syndrome seen in a Hispanic female.

Systemic lupus erythematous associated with multi-vessel spontaneous coronary artery dissection.

Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndrome (ACS), often associated with atherosclerosis. However, SCAD has been increasingly recognized as a distinct entity, especially in young females without traditional cardiovascular risk factors. We present a case of a 56-year-old female with systemic lupus erythematosus (SLE) who developed multivessel SCAD involving the right coronary artery (RCA) and ramus. The patient's clinical presentation included typical chest pain, elevated troponins, and ST depressions on electrocardiography. Coronary angiography confirmed the presence of SCAD, classified as type 4 in the RCA and type 2 in the ramus. Prompt diagnosis and treatment resulted in a favorable prognosis. This case emphasizes the importance of considering SCAD in SLE patients presenting with ACS symptoms, particularly in younger women without evident cardiovascular risk factors. Early invasive coronary angiography is recommended for accurate diagnosis and timely management. SCAD can lead to significant complications and requires meticulous attention during angiographic procedures. Conservative management is often preferred, as most uncomplicated cases of SCAD heal spontaneously. Further research is needed to determine optimal treatment strategies and long-term outcomes for patients with SCAD, especially in the presence of underlying inflammatory conditions like SLE.

A Rare Case of Sarcomatoid Variant of Mixed Germ Cell Tumor of the Testis Presenting With Malignant Hypercalcemia and Tumor Lysis Syndrome.

Hypercalcemia of malignancy is relatively common in several cancers. However, in testicular cancer, paraneoplastic hypercalcemia is uncommon. We describe the first case of severe tumor lysis syndrome associated with hypercalcemia from bone metastasis of testicular origin. Classically, tumor lysis syndrome is associated with hypocalcemia. This was a diagnostic and therapeutic challenge.

Coronavirus Disease 2019 Infection as a Risk Factor for Infective Endocarditis.

Infective endocarditis (IE) is associated with relatively high morbidity and mortality and several risk factors have been identified in the past. Several predisposing factors for IE have been recognized in the literature, depending on the type of bacteria. Coronavirus disease 2019 (COVID-19) infection causes coagulopathy-associated complications and damage to many organ systems due to the inflammatory response induced by this viral infection. COVID-19 emerged only about a year ago and there are many unknown post-COVID-19 complications at this time. Here, we present the case of Streptococcus mitis IE in a patient with no prior predisposing factors other than diagnosis with COVID-19 a month ago.

Maltreatment history, trauma symptoms and research reactivity among adolescents in child protection services.

OBJECTIVE: There is a well-documented link between child maltreatment and poor health across the lifespan. This provides a strong case for ongoing research with youth involved in the child welfare system to reduce negative outcomes and support resilience while being inclusive of youth voices. However, detailed inquiries about maltreatment history and health consequences may cause re-experiencing of events and psychological distress for study participants. Data that accounts for different contexts, such as severity of maltreatment history and current trauma symptomatology, have been limited in considering the question of potential harms to youth who participate in research-especially longitudinal studies. METHODS: This study compared self-reported impact of research participation against maltreatment history and current post-traumatic stress symptomatology among a randomly selected group of adolescents (< 18 years old) in the child protection service (CPS) system. RESULTS: Adolescents who report more serious child maltreatment and current trauma symptom severity reported higher scores on distress questions from pre- to post-assessment participation. Critically, participants who were more negatively impacted by study involvement also reported greater benefit from study involvement. CONCLUSION: The increase in both negative and positive impact does not shift the risk/reward ratio for participation, as risks alone do not increase for this vulnerable group of CPS involved youth. These results are consistent with previous findings from studies involving non-CPS populations and underlies the importance of empirical data to address the question of change in the risk/reward ratio and what factors might play a role in any change. This information can inform inclusion/exclusion criteria for future research with these vulnerable populations, thereby reducing the risk of distress among study participants.

Hand self-Shiatsu for sleep problems in persons with chronic pain: a pilot study.

OBJECTIVE: Difficulty falling asleep (sleep latency) and staying asleep (sleep maintenance) are common problems for persons living with pain. Research demonstrates that sleep problems are, in turn, related to exacerbation of chronic pain. There is a growing body of evidence for a range of pragmatic, non-pharmacological sleep interventions that can potentially be incorporated into pain management programs. This study looks at the outcome of teaching patients with musculoskeletal pain standardized pre-bedtime hand self-Shiatsu (HSS) to reduce sleep latency. METHODS: A case series design, with participants acting as their own controls, was selected to facilitate hypothesis generation for this novel, under-researched intervention. Sleep efficiency, latency and maintenance, sleep beliefs, pain intensity and basic participant demographics were collected at baseline with actigraphy and standardized self-report questionnaires. After one week of baseline data collection, the HSS intervention was taught to participants. Follow-up data were collected at 2 and 8 weeks post-intervention. RESULTS: Data collected at baseline and the two follow-up periods revealed no apparent changes in the objective actigraphy data. However a trend toward improved self-reported sleep latency (time to fall asleep) and sleep duration (time spent asleep) emerged. A number of participants reported they were more concerned with increasing their period of unbroken sleep as opposed to their total sleep time and it is possible that HSS may be useful to be applied during nighttime awakenings as well as before bed. None of the participants reported adverse effects of the intervention. CONCLUSION: These preliminary findings are promising and future studies exploring the mechanism of action and with stronger control of treatment fidelity are indicated.