RESUMO
Cardiomyopathy, also known as a pathology with a cardiovascular cause, can be further differentiated into multiple categories including genetic. Strong correlations between genetic mutations in sarcomeric proteins and presentation of cardiomyopathies have been made. This case report describes the clinical diagnosis of my late-onset hypertrophic cardiomyopathy, which was brought upon by symptoms of chest pain and palpitations that started approximately two years ago and had mostly gone unnoticed during this period. As a geneticist, I decided to undergo genetic test upon diagnosis. These tests found a heterozygous variant of uncertain significance (VUS) in the ALPK3 gene, c.399dup (p.Gly134ArgfsTer30), and a heterozygous c.7552G>A (p.Val2518Ile) VUS in the desmoplakin (DSP) gene. This autobiographical case report hopes to shed light on the importance of genetic screening in the search for the etiology of clinical symptoms.
RESUMO
Pulmonary arterial hypertension used to be considered an ultimately fatal disease despite the formerly available therapy. It is a disease characterized by progressive elevation of pulmonary vascular resistance and pulmonary arterial pressure, eventually resulting in right ventricular failure and death. The purpose of this article is to review the basic pathophysiologic processes involved in pulmonary arterial hypertension, to discuss patient presentation, classification, and diagnostic workup. Regarding treatment, all patients with PAH should be considered for standard therapy with anticoagulation, oxygen, and diuretics for management of right heart failure. Calcium channel blockers are only indicated for patients with a positive acute vasoreactivity test. Patients with a negative vasoreactivity test and considered low risk can be treated with oral agents such as endothelin receptor antagonists or PDE-5 inhibitor. Patients at high risk should be treated with prostacyclin analogs. Finally, a brief mention of new and future potential therapeutic strategies is also included.