Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy
Lorenzo Monserrat, MD*,¶,1,*,
Juan Ramón Gimeno-Blanes, MD ,¶,
Francisco Marín, MD ,¶,
Manuel Hermida-Prieto, PhD*,¶,
Antonio García-Honrubia, MD,
Inmaculada Pérez, BS,
Xusto Fernández, MD*,
Rosario de Nicolas, MD||,
Gonzalo de la Morena, MD,¶,
Eduardo Payá, MD,
Jordi Yagüe, PhD and
Jesús Egido, MD¶,||
* Complejo Hospitalario Universitario Juan Canalejo, A Coruña, Spain
Hospital Virgen de la Arrixaca, Murcia, Spain
Hospital General de Alicante, Alicante, Spain
Hospital Clinic, Barcelona, Spain
|| Fundación Jiménez Díaz, Autónoma University, Madrid, Spain
¶ Red Temática de Investigación Cardiovascular (RECAVA)-Instituto Salud Carlos III, Madrid, Spain.
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Figure 1 Pedigrees of the Families With Fabry Disease
Circles are women and squares are men. Filled symbols are affected patients (all with mutation). Symbols with an "N" indicate unaffected relatives without mutation. Dotted symbols are patients with mutation without apparent clinical manifestations. Dashed symbols are deceased patients. Question marks indicate unknown or not confirmed phenotype but possibly affected. Numbers are ages. Index patients are indicated by the thick arrows. AF = atrial fibrillation; AV = atrioventricular; ECG = electrocardiogram; echo = echocardiogram; HCM = hypertrophic cardiomyopathy; ICD = implantable cardioverter-defibrillator; LV = left ventricular; LVH = left ventricular hypertrophy; TX = transplant.
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