Best Practices in Nuclear Imaging for the Diagnosis of Transthyretin Amyloid Cardiomyopathy (ATTR-CM) in KSA: The Eagle Eyes of Local Experts.

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a complex and serious form of heart failure caused by the accumulation of transthyretin amyloid protein in the heart muscle. Variable symptoms of ATTR-CM can lead to a delayed diagnosis. Recognizing the diagnostic indicators is crucial to promptly detect this condition. A targeted literature review was conducted to examine the latest international consensus recommendations on a comprehensive diagnosis of ATTR-CM. Additionally, a panel consisting of nuclear medicine expert consultants (n = 10) and nuclear imaging technicians (n = 2) convened virtually from the Kingdom of Saudi Arabia (KSA) to formulate best practices for ATTR-CM diagnosis. The panel reached a consensus on a standard diagnostic pathway for ATTR-CM, which commences by evaluating the presence of clinical red flags and initiating a cardiac workup to assess the patient's echocardiogram. Cardiac magnetic resonance imaging may be needed, in uncertain cases. When there is a high suspicion of ATTR-CM, patients undergo nuclear scintigraphy and hematologic tests to rule out primary or light-chain amyloidosis. The expert panel emphasized that implementing best practices will support healthcare professionals in KSA to improve their ability to detect and diagnose ATTR-CM more accurately and promptly. Diagnosing ATTR-CM accurately and early can reduce morbidity and mortality rates through appropriate treatment.

Cardiac amyloidosis: A survey of current awareness, diagnostic modalities, treatment practices, and clinical challenges among cardiologists in selected Middle Eastern countries.

BACKGROUND: Cardiac amyloidosis (CA) is a chronic progressive disease caused by the deposition of amyloid fibrils in cardiac tissues. Diagnosis and management of CA are complicated and have developed over the years. HYPOTHESIS: Middle Eastern countries have significant knowledge disparities in diagnosing, managing, and treating different subtypes of CA. METHODS: An online survey was sent to cardiologists in four countries (Saudi Arabia, Lebanon, Egypt, and Iraq) interested in heart failure and practicing for more than a year. The survey questioned the characteristics of the participants and their institutions. It addressed their knowledge and practices in CA specifically diagnostic modalities, treatment options, and interest in education and knowledge exchange. RESULTS: A total of 85 physicians participated in the survey. There was a variation in the participating cardiologists' knowledge, experience level, and readiness of their institutes to manage patients with ATTR-CM. Most participants believed that a high rate of ATTR-CM misdiagnosis existed. Participants' knowledge of the diagnostic modalities and "red flags" raising suspicion about ATTR-CM varied. Another challenge was the availability of essential diagnostic modalities among various cardiology centers. A knowledge gap was also observed regarding updates in ATTR-CM management. However, there was a high endorsement of the need for more education, physician networking, and knowledge exchange. CONCLUSIONS: This survey highlighted the need for increasing awareness levels among cardiologists in the four selected Middle Eastern countries. Cardiologists are most likely to benefit from additional training and knowledge exchange on the latest management advances of this disease. Thus, measures must be taken to focus on the physician's awareness of ATTR-CM patient journey to achieve a better quality of care and outcome.

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

BACKGROUND: Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to globally investigate rare diseases in the population, was mined for TTR variants and filtered for missense mutations resulting in single amino acid changes. A total of 13,906 Saudi exomes from unrelated individuals were analyzed blindly. RESULTS: Three TTR variants known to be associated with ATTR amyloidosis were identified. Additionally, three novel TTR mutations were identified. Structural analysis of the three novel variants suggests that at least two could be amyloidogenic. The most common variant associated with amyloidosis was p.Val142Ile (allele frequency 0.001). Further investigation of these variants and their translation to clinical practice may help to diagnose, monitor, and manage patients with ATTR amyloidosis. CONCLUSION: Multiple TTR variants potentially associated with systemic ATTR amyloidosis were identified in the Saudi population. Early diagnosis and intervention, facilitated by familial genetic testing of patients with ATTR amyloidosis, may benefit in the management of this disease. Early diagnosis could be enhanced through inclusion of ATTR variants in existing population-based screening programs.