Summary with Key Words
In the aftermath of a recent news of a young high profile doctor dying of sudden cardiac death, the online learning fora conversational transcripts reveal discussions around *sudden cardiac death (SCD)* prevention through *genetic screening* and *implantable cardioverter-defibrillators (ICDs)*, focusing on the challenges and opportunities in improving outcomes. Participants highlight the importance of obtaining *family history* of SCD, *genetic conditions* (e.g., cardiomyopathies, Brugada syndrome, long QT syndrome), and *training the public in basic life support (BLS)*. The conversation also explores the lack of *randomized controlled trials (RCTs)* for prophylactic ICD use in genetically screened individuals due to ethical constraints and reliance on *observational studies*. AI's potential in bridging gaps in real-time data and tailoring guidelines is acknowledged, but limitations in AI's ability to independently collect data are recognized. The idea of using "Orwellian devices" to gather uncontrolled intervention data for efficacy evaluation is proposed. Later there's another angle other than genes, as brought about by another conversationist who calls it jeans (life style disorder) where the 10 year findings of an autopsy series from KEM point toward the fact that most human problems are either due to internal medicine (genes) or external medicine (jeans)!
Key Words
- *Sudden Cardiac Death (SCD)*
- *Genetic Screening*
- *Implantable Cardioverter-Defibrillator (ICD)*
- *Family History*
- *Cardiomyopathies* (HCM, ARVC, LQTS)
- *Basic Life Support (BLS)*
- *Prophylactic ICD*
- *Observational Studies*
- *Randomized Controlled Trials (RCTs)*
- *AI in Medicine*
- *Real-Time Insights*
- *Orwellian Devices*
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[28/08, 12:49]hu1: https://www.linkedin.com/
[27/08, 21:44]hu1: This article might have to revise the age I guess.. reality seems to be ahead of guidelines..
28/08, 10:29]hu3: It's always ahead! 👏
[27/08, 22:07]hu2: May I suggest obtaining family history of SCD please. I know of cases where a parent and multiple children died of SCD around age 40. Obtaining clear family history would have led to identification of genetic conditions (cardiomyopathies, Brugada, long QT etc) and could have saved the children’s lives by implanting ICD.
[27/08, 22:09]hu4: True
[27/08, 22:15]hu4: BLS training for laiety on mass scale is needed to let people know how to respond in case of a collapse
[28/08, 10:30]hu3: @Meta AI what is the evidence that genetic screening for cardiomyopathy followed by preemptive therapeutic intervention in the form of ICD can help to prevent sudden cardiac death?
[28/08, 10:30] Meta AI: Evidence suggests that genetic screening for cardiomyopathy, combined with preemptive interventions like implantable cardioverter-defibrillators (ICDs), can significantly reduce the risk of sudden cardiac death (SCD) in high-risk individuals. Genetic screening helps identify pathogenic mutations associated with conditions like hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and long QT syndrome (LQTS), which are linked to SCD. Once a mutation is confirmed, targeted interventions, including ICD implantation, are recommended for individuals with high-risk features, such as severe left ventricular hypertrophy or previous arrhythmic events.¹ ² ³
ICDs have proven effective in preventing SCD by delivering life-saving shocks during malignant arrhythmias, particularly in patients with structural abnormalities or inherited arrhythmia syndromes. Studies have shown that cascade genetic testing in families of SCD victims identifies at-risk relatives, enabling timely interventions like ICDs, beta-blockers, or lifestyle modifications, reducing SCD events.⁴
Would you like to explore the cost-effectiveness or limitations of these approaches?
[28/08, 10:54]hu4: @Meta AI please share a best RCT where it has been shown that prophylactic ICD in those found to have SCD genetic abnormalities on screening along with strong family history has helped achieve better outcomes in the ICD group over the sham intervention group. Please share the data in PICO format and don't share any percentages
[28/08, 10:54] Meta AI: Currently, there is no randomized controlled trial (RCT) that has specifically assessed the use of prophylactic implantable cardioverter-defibrillators (ICDs) in individuals identified through genetic screening for sudden cardiac death (SCD)-associated genetic mutations (e.g., hypertrophic cardiomyopathy [HCM], arrhythmogenic right ventricular cardiomyopathy [ARVC], or long QT syndrome [LQTS]) with a strong family history of SCD, comparing outcomes between ICD implantation and a sham intervention. Most of the evidence supporting the use of ICDs in this population comes from observational studies, registry data, and expert consensus guidelines rather than high-quality RCTs.
This lack of RCTs is largely due to ethical considerations: withholding a potentially life-saving intervention (ICD) in individuals at high risk of SCD would be ethically challenging. Instead, clinical practice has relied on large observational studies and cohort analyses to demonstrate the efficacy of ICDs in preventing SCD in high-risk individuals.
Observational Evidence
For example, the evidence supporting ICD use in high-risk individuals with inherited cardiomyopathies or arrhythmia syndromes comes from studies like the *ICD Registry* or cohort studies such as the *HCM Risk-SCD model*, which stratify SCD risk and demonstrate the benefit of ICDs in reducing mortality. However, these studies do not include a sham group for comparison.
If you'd like, I can summarize observational study findings or discuss guidelines for ICD use in this population. Let me know!
[28/08, 10:55]hu1: I wonder how we can use AI to reduce that gap, giving us real-time insights so we adjust our guidelines accordingly, and tailor it to population groups to start with before personalized medicine.. 😄 the data would be very tricky though..
[28/08, 10:57]hu3: AI can't collect the data for us and do the RCTs for us. It can only survive on whatever humans do
[28/08, 10:58]hu3: But Orwellian devices can collect that kind of data we need to circumvent (work around) solutions to find efficacy of interventions that have been delivered in an uncontrolled manner such as the ICD as elucidated by AI above.
Thematic Analysis
1. Prevention and Early Identification
- *Family History*: Emphasis on the importance of obtaining detailed family history to identify genetic predispositions to SCD (e.g., cardiomyopathies, Brugada syndrome, long QT syndrome). Early identification allows for timely intervention.
- *Genetic Screening*: Genetic testing is highlighted as a tool to stratify individuals at risk for SCD, enabling preemptive therapeutic measures like ICD implantation.
2. Therapeutic Interventions
- *ICDs for High-Risk Individuals*: ICDs are recognized as effective in preventing SCD by delivering life-saving shocks during malignant arrhythmias. However, the lack of RCTs for prophylactic ICD use in genetically screened populations is noted.
- *Observational Evidence*: Current guidelines rely on observational studies and registry data rather than RCTs due to ethical constraints in withholding ICDs from high-risk individuals.
3. Public Health and Awareness
- *Basic Life Support Training*: The need for mass-scale BLS training for the general public is proposed to improve responses to cardiac collapses.
- *Community-Level Interventions*: Participants suggest expanding public health education and infrastructure to address SCD prevention comprehensively.
4. Limitations in Clinical Evidence
- *Absence of RCTs*: Ethical challenges prevent RCTs comparing prophylactic ICD outcomes with sham interventions, leaving observational studies as the primary source of evidence.
- *Reliance on Guidelines*: Current clinical practices are shaped by expert consensus and observational data, which may lag behind real-world dynamics.
5. Role of AI in Medicine
- *Real-Time Insights*: AI is acknowledged as a potential tool for real-time data analysis to update guidelines and tailor interventions to specific populations.
- *Challenges for AI*: AI depends on human-collected data and cannot independently perform RCTs or generate evidence.
- *Orwellian Devices*: The concept of using advanced monitoring technologies to collect uncontrolled intervention data is introduced as a workaround for evaluating efficacy in real-world settings.
Comparative Reflection
The transcript reflects the interplay between *clinical practice*, *public health*, and *technological innovation* in addressing SCD. It highlights the tension between relying on observational evidence versus the ideal of RCTs, while exploring AI's role in bridging gaps in real-world data and guideline development. The conversation underscores the importance of integrating genetic screening, therapeutic interventions, public health education, and emerging technologies to advance SCD prevention and outcomes.
[30/08, 14:48] hu4: https://www.ndtv.com/india-
[30/08, 13:06]hu5: Very sad. It’s disheartening to see <40yr with MI that too brought by their healthy parents
[30/08, 13:07]hu5: I think NOT EVERY DISEASE COMES FROM GENES WE GET, BUT ALSO FROM JEANS (lifestyle) WE WEAR
[30/08, 20:37]hu3: Yes here's some work around the jeans from KEM :
[30/08, 20:39]hu3: From his 2019 paper:
"A 10-year retrospective autopsy-based study was carried out in a large tertiary-care centre and patients aged ≤45 years with IHD were selected. Out of 545 autopsied cases of IHD, 95 patients (17.4%) were young. Among these 95 patients, 84 (88.4%) had IHD related to atherosclerotic CAD; the youngest patient was 18 years old. Predictably there was sole involvement of left anterior descending artery and the presence of fibrous plaques. Irrespective of the plaque morphology, the commonest complication was thrombosis produced by plaque erosion seen in 36.9% of patients. Acute coronary insufficiency was noted in 52 patients (61.9%), while healed infarctions were surprisingly noted in 28 patients (33.3%). Screening for IHD in the young population may help to improve prognosis by detecting subclinical disease, although more studies are necessary to establish reference limits for this young population."
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