Clinical and echocardiographic study of hypertrophic cardiomyopathy in Tanzania

Hypertrophic cardiomyopathy is the most common genetic heart disease. Once considered relentless, untreatable, and deadly, it has become a highly treatable disease with contemporary management. Hypertrophic cardiomyopathy is one of cardiology's "great masqueraders." Mistakes and delays in diagnosis abound. Hypertrophic cardiomyopathy commonly "masquerades" as asthma, anxiety, mitral prolapse, and coronary artery disease. However, once properly diagnosed, patients with hypertrophic cardiomyopathy can be effectively managed to improve both symptoms and survival. This review highlights some of the misconceptions about hypertrophic cardiomyopathy. Providers at all levels should have awareness of hypertrophic cardiomyopathy to promptly diagnose and properly manage these individuals.

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“…(1)(2)(3)(4) Surprisingly these studies yielded similar results with estimated hypertrophic cardiomyopathy prevalence of 0.2%…”

Section: Introductionsupporting

confidence: 75%

Misconceptions and Facts About Hypertrophic Cardiomyopathy

Argulian

Sherrid

Messerli

2016

The American Journal of Medicine

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“…Hypertrophic cardiomyopathy (HCM), which was found in 0.2% of 6680 unselected echocardiograms in Tanzania,77 is recognised in Africans and other populations as an autosomal dominant disorder that is caused by mutations in at least 11 different genes that code for sarcomeric proteins 3. Most HCM-causing mutations have arisen independently in most families studied, suggesting that the majority occurred relatively recently as new mutations 30.…”

Section: Non-endemic Cardiomyopathiesmentioning

confidence: 99%

Contemporary trends in the epidemiology and management of cardiomyopathy and pericarditis in sub-Saharan Africa

Mayosi

2007

Heart

213

133

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“…This impression was reinforced by a study that found HCM to occur in 0.2% of 6 680 unselected echocardiograms performed in Tanzania 3. However, recent echocardiographic studies from the continent have dispelled that myth 4.…”

Section: Introductionmentioning

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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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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Clinical and echocardiographic study of hypertrophic cardiomyopathy in Tanzania

Cited by 30 publications

References 4 publications

Misconceptions and Facts About Hypertrophic Cardiomyopathy

Misconceptions and Facts About Hypertrophic Cardiomyopathy

Contemporary trends in the epidemiology and management of cardiomyopathy and pericarditis in sub-Saharan Africa

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

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