Cardiac transthyretin amyloidosis

Dungu, Jason; Anderson, Lisa; Whelan, Carol; Hawkins, Philip N.

doi:10.1136/heartjnl-2012-301924

Cited by 122 publications

(78 citation statements)

References 66 publications

(75 reference statements)

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“…CMR with gadolinium enhancement is more sensitive than echocardiography for identifying ATTR amyloidosis, as increased wall thickness and diastolic impairment are also found in hypertensive cardiomyopathy. 6,15 The allele frequency of ATTR V122I, an autosomal dominant condition, has been reported to be carried by 3.4% in blacks, 7 but the gene frequency in the UK population is unknown. The penetrance of TTR gene mutations is also unknown but reported to be variable.…”

Section: Discussionmentioning

confidence: 99%

Afro-Caribbean Heart Failure in the United Kingdom

Dungu

Papadopoulou

Wykes

et al. 2016

Circ: Heart Failure

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Background— It has been reported that subjects of African descent present with heart failure at a younger age and because of different causes than whites. We present contemporary data from UK Afro-Caribbean patients in London. Methods and Results— All patients with heart failure presenting to St George’s Hospital Heart Failure clinic between 2005 and 2012 were included (n=1392). Patients were predominantly white (71%) and male (67%), and median age at presentation was 73 years (range, 18–100 years). In 211 Afro-Caribbean patients, the most common cause of heart failure was nonischemic dilated cardiomyopathy in 27.5% (whites, 19.9%; P <0.001). Lower rates of ischemic cardiomyopathy were observed (13% versus 41%; P <0.001). The fourth most common cause of heart failure in Afro-Caribbeans was cardiac amyloidosis (11.4%). The prevalence may have been even higher as not all patients were tested for amyloidosis. Patients with ATTR V122I had the worst prognosis compared with other causes of Afro-Caribbean heart failure and white patients. To better understand this condition, we analyzed data from the largest international cohort of ATTR V122I patients, followed up at the UK National Amyloidosis Center (n=72). Patients presented with cardiac failure (median age, 75 [range, 59–90] years). Median survival was 2.6 years from diagnosis. Conclusions— In London, the cause of heart failure varies depending on ethnicity and affects age of presentation and outcomes. In Afro-Caribbean patients, ATTR V122I is an underappreciated cause of heart failure, and cardiomyopathy is often misattributed to hypertension. As promising TTR therapies are in development, increased awareness and proactive detection are needed.

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Section: Discussionmentioning

confidence: 99%

Afro-Caribbean Heart Failure in the United Kingdom

Dungu

Papadopoulou

Wykes

et al. 2016

Circ: Heart Failure

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“…35 Interestingly, hepatic accumulation is minimal, and hepatic failure is uncommon. Nonetheless, liver transplant is the definitive treatment in ATTR.…”

Section: Discussionmentioning

confidence: 99%

Having a Heavy Heart

et al. 2014

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ForwardInformation about a real patient is presented in stages (boldface type) to expert clinicians (Drs. Neal K. Lakdawala and Jacob P. Laubach) who respond to the information, sharing his or her reasoning with the reader (regular type). A discussion by the authors follows.A 63-year-old man with previous combat-related Agent Orange exposure and no healthcare contact for 40 years presented to his primary care physician with dyspnea on exertion, orthopnea, and bilateral lower extremity edema. Electrocardiography reportedly showed sinus rhythm, and transthoracic echocardiography demonstrated moderate left ventricular hypertrophy with normal systolic function. New onset heart failure with preserved ejection fraction, attributed to hypertensive heart disease, was diagnosed, and he was begun on diuretics with an initial modest improvement in his symptoms. He presented to our hospital 1 month later with worsening heart failure symptoms and inadequate outpatient response to escalating doses of oral furosemide.The patient reported dyspnea with minimal activity, severe orthopnea, nightly paroxysmal nocturnal dyspnea, and worsening lower extremity edema. There was a history of abdominal distension, although he found that his arms were thinner and his eyes appeared more sunken-in. On examination he was cachectic with a pulse of 85 beats per minute, blood pressure of 82/70 mm Hg, and respiratory rate of 28 breaths per minute with labored breathing. His skin was cool to touch. A diminished single first heart sound, persistently split second sound with a prominent pulmonary component, and S3 gallop were present. Jugular venous pressure was estimated at 18 cm H 2 O. The remainder of the examination was notable for dullness to percussion at the lung bases, ascites, tender hepatomegaly, and marked bilateral lower extremity pitting edema. ECG revealed sinus rhythm with low voltages in the limb leads and no criteria for left ventricular hypertrophy (Figure 1). Laboratory studies revealed a creatinine of 0.8 mg/dL and normal electrolytes. Dr Neal K. Lakdawala: The clinical presentation is of profound and rapidly progressive biventricular heart failure. Evidence of right heart failure is apparent, with marked elevation in the jugular venous pressure with associated ascites and edema. Signs and symptoms (orthopnea and paroxysmal nocturnal dyspnea) of left heart failure are also present. Meta-analyses have shown the presence of a S3 gallop, increased jugular venous pressure, and positive abdominal reflux to be predictive of increased left ventricular filling pressure.1 However, the absence of pulmonary rales is not helpful in ruling out left-sided heart failure, as chronic pulmonary venous congestion leads to pulmonary lymphatic adaptation, which limits the development of alveolar edema and associated rales. The persistently split second sound with a prominent pulmonary component suggests elevated pulmonary arterial pressures with delayed right ventricular emptying.The physical examination in decompensated heart failure is critical...

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“…The wild-type molecule causes cardiac amyloidosis in the elderly (wtATTR amyloidosis or senile systemic amyloidosis) which is an increasingly recognized condition. Mutated TTR can cause familial amyloid cardiomyopathy (common in the African-American population due to deposition of variant TTR V122I) 3,4 and much rarer autosomal dominant familial amyloid polyneuropathy due to other TTR mutations, 5 some of which also cause significant cardiac amyloidosis. wtATTR amyloid deposits can be identified at autopsy in nearly a quarter of individuals over 80 years of age but the true incidence of clinically significant cardiac wtATTR amyloidosis remains unclear.…”

Section: See Related Article Pp1355-1363mentioning

confidence: 99%

Role of imaging in cardiac amyloidosis: An ongoing challenge

Wechalekar

2016

Journal of Nuclear Cardiology

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Cardiac transthyretin amyloidosis

Cited by 122 publications

References 66 publications

Afro-Caribbean Heart Failure in the United Kingdom

Afro-Caribbean Heart Failure in the United Kingdom

Having a Heavy Heart

Role of imaging in cardiac amyloidosis: An ongoing challenge

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