Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy

Hoigné, Philipp; Jost, Christine H. Attenhofer; Duru, Fırat; Oechslin, Erwin; Seifert, Burkhardt; Widmer, U; Frischknecht, B; Jenni, Rolf

doi:10.1016/j.ijcard.2005.08.023

Cited by 43 publications

(23 citation statements)

References 32 publications

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“…Pre-treatment ECGs were retrospectively assessed by a single investigator (PP) using digitized ECGs and on-screen callipers with the ImageJ program (http://rsb.info.nih.gov/ij/). Data on the following parameters were retrieved from 3 consecutive sinus beats: heart rate, P wave duration, PQ-interval, QRSduration and QT-interval, QTc [32], Sokolow-Lyon index to assess left ventricular hypertrophy and the sum of the QRS amplitudes in lead I + II + III b 1.5 mV [33,34] as well as a Sokolow-Lyon index of b1.5 mV [35] to assess low voltages. All available echocardiography and CMR reports (baseline and treatment) were retrospectively scored for the presence of pericardial effusion, left ventricular outflow tract obstruction (LVOTO) and late enhancement by gadolinium on CMR.…”

Section: Validation Of Pre-selected Criteriamentioning

confidence: 99%

“…In 5% (n = 3/66) of an Italian HCM cohort abnormally low voltages on ECG were present. As abnormally low voltages were found in this HCM cohort, and also in other subtypes of HCM [33], but not in FD patients, the panel decided that the presence of low voltages on ECG b 1.5 mV could be used to exclude a diagnosis of FD, which was implemented in the diagnostic algorithm (Fig. 1).…”

Section: Abnormally Low Voltages On Ecg Excludes Fdmentioning

confidence: 99%

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Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

Smid

Tol

Cecchi

et al. 2014

International Journal of Cardiology

139

113

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Section: Validation Of Pre-selected Criteriamentioning

confidence: 99%

Section: Abnormally Low Voltages On Ecg Excludes Fdmentioning

confidence: 99%

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

Smid

Tol

Cecchi

et al. 2014

International Journal of Cardiology

139

113

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“…The involvement of the papillary muscles may occur in up to 59% of patients with nonobstructive HCM. 2 Papillary muscle abnormalities may involve the direct insertion of the papillary muscle into the mitral valve resulting in mitral inflow obstruction and pulmonary venous and arterial hypertension as seen in our patient. Three-dimensional echocardiography also provides more information about the distribution of hypertrophy within the LV myocardium than 2-dimensional echocardiography.…”

mentioning

confidence: 64%

Hypertrophic Cardiomyopathy With Mitral Inflow Obstruction and Severe Pulmonary Hypertension

et al. 2013

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A 50-year-old man was admitted for progressive dyspnea (New York Heart Association functional class III) and episodes of paroxysmal nocturnal dyspnea. He had no significant past history of any illness or coronary artery risk factors. His blood pressure was 126/80 mm Hg; heart rate, 96 beats/ min; peripheral oxygen saturation, 98%. Clinical examination found a prominent cardiac apex with grade II mid-diastolic murmur at the apex with a prominent pulmonary component of S2, jugular vein distension, and normal lung sounds. His ECG showed sinus tachycardia with left ventricular hypertrophy and left atrial enlargement (Figure 1). Chest radiography showed cardiomegaly with left atrial enlargement and grade III pulmonary venous hypertension (Figure 2). Transthoracic echocardiography showed normal left ventricular size with unusually hypertrophied papillary muscles. The thickness of interventricular septum was 14 mm, posterior wall thickness was 18 mm, and anterolateral wall was 20 mm. The hypertrophied papillary muscle extended to chordae tendineae and restricted opening of mitral valve leaflets causing mitral inflow obstruction ( Figure 3A; Movie I in the online-only Data Supplement). The mean mitral inflow gradient was 7 mm Hg ( Figure 3B). 3-dimensional echocardiography clearly demonstrated the direct insertion of thickened papillary muscle to the leaflets resulting in restricted mitral valve opening ( Figure 3C and 3D; Movies II and III in the online-only Data Supplement). The calculated left ventricular (LV) mass was 552 g. The right ventricle was normal in size and function. There were a few muscle bundles within the right ventricle cavity. There was mild tricuspid regurgitation, and the estimated pulmonary artery systolic pressure was 106 mm\Hg. There was no evidence of rheumatic heart disease. There was no resting or inducible gradient across the LV outflow tract. Later cardiac catheterization was done to study the hemodynamic consequence of this abnormality. No abnormality was detected on the oxymetry run. The pulmonary artery systolic pressure was 102 mm Hg, and the mean pulmonary artery pressure was 65 mm Hg. The pulmonary capillary wedge pressure was 37/34/31 mm Hg. The end-diastolic mitral gradient was 14 mm Hg ( Figure 4A). There was no gradient across the LV outflow tract ( Figure 4B). The LV angiography showed a large convex-shaped filling defect with no obstruction in the LV outflow tract ( Figure 5A; Movie IV in the online-only Data Supplement). Right ventricular angiography showed an unusual large oval-shaped filling defect within the right ventricle without causing a right ventricular outflow tract obstruction ( Figure 5B; Movie V in the online-only Data Supplement). The cardiac MRI showed isolated hypertrophy of the anterolateral wall of the LV with abnormally hypertrophied papillary muscle within both right and left ventricles ( Figure 6A through 6C). The thickness of the anterolateral wall was 32 mm, which was grossly underestimated on echocardiography. The hypertrophied papillary muscle measured ...

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“…Typically the echocardiogram shows marked increases in wall thickness and ventricular dilatation later in the disease process. Leaflet and cuspid thickening can be seen, and this produces valve impairment that usually does not require surgical treatment 24 . Tissue Doppler Imaging (TDI) and strain rate echocardiography represent new echocardiographic tools.…”

Section: Clinical Presentationmentioning

confidence: 99%

Fabry Cardiomyopathy: A Global View

cebada¹,

Magnas²,

Zamorano³

2011

Advances in the Study of Genetic Disorders

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Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy

Cited by 43 publications

References 32 publications

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

Hypertrophic Cardiomyopathy With Mitral Inflow Obstruction and Severe Pulmonary Hypertension

Fabry Cardiomyopathy: A Global View

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