Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarction

Shovlin, Claire L.; Awan, Iman; Cahilog, Zhen; Abdulla, F. Naziya; Guttmacher, Alan E.

doi:10.1016/j.ijcard.2016.04.006

Cited by 18 publications

(17 citation statements)

References 51 publications

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“…Additionally, screening methods and treatment options for PAVMs, CVMs, epistaxis, gastro-intestinal bleeding and subsequent anemia have improved over the years, which most likely benefits survival as well. In addition to this, several studies have suggested that patients with HHT possibly have a natural protection against certain cancers and myocardial infarction, possibly benefiting survival rates [19,20]. While we did not observe a negative effect of HHT on the survival in this study, it is important to realize that the quality of life in these patients will probably still be lower compared to their controls even if optimal screening and treatment was performed.…”

Section: Discussioncontrasting

confidence: 46%

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

Gussem

Kroon

Hosman

et al. 2020

JCM

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Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease, is characterized by telangiectases and arteriovenous malformations (AVMs). Untreated AVMs, especially in the lungs—pulmonary AVMs (PAVMs)—can result in morbidity with a decreased life expectancy. We have investigated whether HHT patients, systematically screened for HHT-related organ involvement and treated if needed, have a similar survival as persons without HHT. We included all individuals screened for HHT between 2004 and 2016 with a genetically or clinically confirmed diagnosis (HHT group) or excluded diagnosis (non-HHT control group). The social security number was used to confirm status as dead or alive in December 2019. We included 717 HHT patients and 471 controls. There was no difference in survival between the HHT and the non-HHT control group. The HHT group had a life expectancy of 75.9 years (95% confidence interval (CI) 73.3–78.6), comparable to the control group (79.3 years, 95% CI 74.8–84.0, Mantel–Cox test: p = 0.29). In conclusion, the life expectancy of HHT patients systematically screened for HHT-related organ involvement and treated if needed in an HHT center of excellence was similar compared to their controls, justifying systematic screening and treatment in HHT patients.

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Section: Discussioncontrasting

confidence: 46%

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

Gussem

Kroon

Hosman

et al. 2020

JCM

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“…Patients with HHT often tolerate anticoagulation or antiplatelet therapy well 49. Recently described reduced rates of specific cancers,34 50 51 better survival outcomes for cancer patients who have HHT52 and low myocardial infarction rates20 await explanation. The HHT phenotype is subtly different between HHT genotypes, for instance patients with HHT2 are less likely to have PAVMs and more likely to have hepatic AVMs than patients with HHT1 or SMAD4 -related HHT 37 39.…”

Section: Introductionmentioning

confidence: 99%

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

Shovlin

Condliffe

Donaldson³

et al. 2017

Thorax

121

165

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Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women in pregnancy), opportunities for risk prevention, surprisingly high prevalence and under-appreciation, thus representing a challenging condition for practising healthcare professionals. The driver for the current Clinical Statement was the plethora of new data since previous hereditary haemorrhagic telangiectasia (HHT) guidelines generated in 2006 and a systematic Cochrane Review for PAVM embolisation in 2011. The British Thoracic Society (BTS) identified key areas in which there is now evidence to drive a change in practice. Due to the paucity of data in children, this Statement focused on adults over 16 years. The Statement spans the management of PAVMs already known to be present (interventional and medical), screening and diagnosis (for PAVMs and HHT) and follow-up of patients following a first diagnosis, intervention or negative screen for PAVMs. The Good Practice Points (in bold) were generated for a target audience of general respiratory, medical and specialist clinicians and were approved by the BTS Standards of Care Committee, before formal peer review and public consultation. The Statement spans embolisation treatment, accessory medical management and issues related to the likelihood of underlying HHT.

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“…As these telangiectasia often occur in the nasal mucosa, the most prominent clinical feature of HHT is epistaxis [ 12 ], 96% of patients with HHT suffer from epistaxis, of which more than 50% before the age of 20 [ 13 ]. Both epistaxis and especially gastrointestinal bleeding can lead to severe anaemia [ 14 ].…”

Section: Hereditary Haemorrhagic Telangiectasiamentioning

confidence: 99%

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

Vorselaars

Hosman

Westermann

et al. 2018

IJMS

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Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT. Clinical signs of the disease combination may not be specific but early diagnosis is important for appropriate treatment. This review describes the molecular mechanism and management of HPAH and HHT.

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Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarction

Abstract: Arrhythmias are the most common cardiac phenotype in HHT, and likely to be aggravated by iron deficiency anemia, its treatments, and/or high output states due to AVMs. Myocardial infarction rates may be reduced in this apparently high risk population.

Cited by 18 publications

References 51 publications

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations

Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia

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