Hypertrophic cardiomyopathy in the Saudi Arabian population: Clinical and echocardiographic characteristics and outcome analysis

Ahmed, Waqas; Akhtar, Naveed; Bech‐Hanssen, Odd; Mahdi, Bader Al; Otaibi, Talal Al; Fadel, Bahaa M.

doi:10.1016/j.jsha.2013.08.003

Cited by 6 publications

(8 citation statements)

References 23 publications

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“…Thirty-six per cent of Taiwanese HCM patients had pulmonary oedema or paroxysmal atrial fibrillation. More recently, in the first report on the clinical characteristics of HCM in Saudi Arabia, Ahmed and co-authors found the population of HCM patients to be 71% male, and with a mean age of 42 years 17. Dyspnoea and palpitations were the commonest symptoms, and LVOT obstruction was found in 28%.…”

Section: Discussionmentioning

confidence: 99%

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Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans

Ntusi

Shaboodien

Badri

et al. 2016

CVJA

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SummaryBackgroundLittle is known about the clinical characteristics, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy (HCM) in Africans. The objective of this study was to delineate the clinical and genetic features and outcome of HCM in African patients.MethodsInformation on clinical presentation, electrocardiographic and echocardiographic findings, and outcome of cases with HCM was collected from the Cardiac Clinic at Groote Schuur Hospital over a mean duration of follow up of 9.1 ± 3.4 years. Genomic DNA was screened for mutations in 15 genes that cause HCM, i.e. cardiac myosinbinding protein C (MYBPC3), cardiac β-myosin heavy chain (MYH7), cardiac troponin T2 (TNNT2), cardiac troponin I (TNNI3), regulatory light chain of myosin (MYL2), essential light chain of myosin (MYL3), tropomyosin 1 (TPM1), phospholamban (PLN), α-actin (ACTC1), cysteine and glycine-rich protein 3 (CSRP3), AMP-activated protein kinase (PRKAG2), α-galactosidase (GLA), four-and-a-half LIM domains 1 (FHL1), lamin A/C (LMNA) and lysosomeassociated membrane protein 2 (LAMP2). Survival and its predictors were analysed using the Kaplan–Meier and Cox proportional hazards regression methods, respectively.ResultsForty-three consecutive patients [mean age 38.5 ± 14.3 years; 25 (58.1%) male; and 13 (30.2%) black African] were prospectively enrolled in the study from January 1996 to December 2012. Clinical presentation was similar to that reported in other studies. The South African founder mutations that cause HCM were not found in the 42 probands. Ten of 35 index cases (28.6%) tested for mutations in 15 genes had disease-causing mutations in MYH7 (six cases or 60%) and MYBPC3 (four cases or 40%). No disease-causing mutation was found in the other 13 genes screened. The annual mortality rate was 2.9% per annum and overall survival was 74% at 10 years, which was similar to the general South African population. Cox’s proportional hazards regression showed that survival was predicted by New York Heart Association (NYHA) functional class at last visit (p = 0.026), but not by the presence of a disease-causing mutation (p = 0.474).ConclusionsComprehensive genetic screening was associated with a 29% yield of causal genetic mutations in South African HCM cases, all in MYH7 and MBPC3 genes. A quarter of the patients had died after a decade of follow up, with NYHA functional class serving as a predictor of survival.

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Section: Discussionmentioning

confidence: 99%

“…Age at onset of symptoms (38.5 ± 14.3 years), male preponderance (58%), and major symptoms were similar to those reported in North American, Middle Eastern and Eastern series (Table 2). 11,16,17 Nearly 30% of the patients bear mutations in the MYH7 and MYBPC3 genes, which are the commonest genetic causes of HCM 15…”

Section: Discussionmentioning

confidence: 99%

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans

Ntusi

Shaboodien

Badri

et al. 2016

CVJA

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“…Consequently, 55 full-text articles were assessed for eligibility, of which 51 were excluded (25 were irrelevant, 17 were single case reports, 7 were review articles, 1 was an abstract without extractable data, and 1 was a letter to the editor). Three studies [ 16 , 29 , 30 ] and one abstract [ 31 ] were included as they met the inclusion criteria for review. The PRISMA flowchart is depicted in Fig.…”

Section: Resultsmentioning

confidence: 99%

“…HCM is characterized by hypertrophy of the left ventricle (LVH) in the absence of a secondary cause such as hypertension or aortic stenosis [ 11 , 12 , 14 ]. Clinically, HCM is described to have a very wide variety of presentations ranging from asymptomatic forms to heart failure, with progression to arrhythmia and fibrillation [ 13 , 15 , 16 ]. Consequently, HCM is reported to be the cause of approximately, 50% of sudden cardiac deaths (SCDs) among children, adolescents, and cardiac transplantation patients, as well as among trained athletes [ 12 , 17 - 19 ].…”

Section: Introductionmentioning

confidence: 99%

Hypertrophic Cardiomyopathy in Saudi Arabia: A Systematic Review of the Epidemiological, Clinical, and Imaging Features

Rajab

2023

CCR

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BACKGROUND: A systematic review was performed to deliver a critical view on clinical and research practice on hypertrophic cardiomyopathy (HCM) in Saudi Arabia. Scopus, PubMed, and Google Scholar databases were searched for original articles reporting clinical and/or imaging findings among HCM patients in Saudi Arabia. Of 559 records identified, 3 studies and 1 abstract were included, involving 169 patients. METHOD: The mean ages ranged between 40-56 years, up to 93.3% were males. A family history of HCM was reported in one study (5%), and sudden cardiac death was investigated in two studies (9% and 13%). Where reported, dyspnea was the most frequent symptom (60-68.7%), followed by chest pain (12.5%-73.3%). RESULT: Regarding complications, atrial fibrillation was reported among 0-25% of the patients, mitral regurgitations among 13.3-50%, and ventricular tachycardia among 5-12.5%. Imaging parameters were inadequately documented, and suggested high prevalence of left atrial enlargement, SVI + RV5 > 35 mm, blocks, and asymmetric septal hypertrophy. CONCLUSION: The ejection fraction was reported by two studies with a mean±SD of 68±13% and 77.2±8.07%. The researchers stress the paucity, low quality and disparity in time of original studies about HCM in Saudi Arabia and recommend conducting national multicenter studies, with appropriate design, notably using screening-based recruitment methods.

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“…Therefore, it has been estimated that HCM affects around 20 million people, making this disease the most common genetic cardiovascular disease [5]. Although HCM seems less prevalent among women, both sexes are equally affected [6]. This review presents a systematic approach to the definition, assessment, management and prognosis of patients affected by HCM and their relatives based on current scientific evidence and guidelines.…”

Section: Introductionmentioning

confidence: 99%

A complex unit for a complex disease: the HCM-Family Unit

Vriz

Alsergani

Elshaer

et al. 2021

Monaldi Arch Chest Dis

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Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous disorders that are most commonly passed on in a heritable manner. It is a relatively rare disease around the globe, but due to increased rates of consanguinity within the Kingdom of Saudi Arabia, we speculate a high incidence of undiagnosed cases. The aim of this paper is to elucidate a systematic approach in dealing with HCM patients and since HCM has variable presentation, we have summarized differentials for diagnosis and how different subtypes and genes can have an impact on the clinical picture, management and prognosis. Moreover, we propose a referral multi-disciplinary team HCM-Family Unit in Saudi Arabia and an integrated role in a network between King Faisal Hospital and Inherited and Rare Cardiovascular Disease Unit-Monaldi Hospital, Italy (among the 24 excellence centers of the European Reference Network (ERN) GUARD-Heart). Graphical Abstract

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Hypertrophic cardiomyopathy in the Saudi Arabian population: Clinical and echocardiographic characteristics and outcome analysis

Abstract: The natural history of hypertrophic cardiomyopathy in the Saudi population appears to be benign with catenoid morphology being the most common septal hypertrophy pattern. Risk of SCD appears to be quite low in this population.

Cited by 6 publications

References 23 publications

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans

Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans

Hypertrophic Cardiomyopathy in Saudi Arabia: A Systematic Review of the Epidemiological, Clinical, and Imaging Features

A complex unit for a complex disease: the HCM-Family Unit

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