Timely detection and diagnosis of heart disorders can lead to enhanced treatment options and improve prognosis. Having identified genetic variants associated with cardiology diseases in over 200 different genes, we can support you in providing your patients with a precise diagnosis of a cardiovascular disease. Testing can also identify asymptomatic and at-risk family members, facilitating precautions or interventions to prevent illness or sudden death.
Articles on Cardiovascular
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting hemizygous males and heterozygous females. The intracellular storage affects different organ systems, causing severe alteration. The aim of the present study was to evaluate the diagnostic value of cTnI using a contemporary…
Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease character-ized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cere-brovascular manifestations. Annual incidence is reported to be 1 in 80,000 live births but this figure may…
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)
Anomalous origin of left coronary artery from pulmonary artery (ALCAPA), also known as the Bland-White-Garland syndrome, is a rare congenital abnormality, with an incidence of 1 in 300,000 live births. Herein we report the results of the first whole exome sequencing (WES) of an ALCAPA patient who…
Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases.
Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene
Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). The clinical association of Pierson syndrome…