228 Management and treatment of an hypertrophic cardiomyopathy phenotype

Abstract

Abstract Methods and results We are presenting the case of a 75-year-old man who was received in our Cardiomyopathy unit in 1986 with echocardiography showing evidence of left ventricular concentric hypertrophy and a subsequent diagnosis of a sarcomeric hypertrophic cardiomyopathy. During the follow-up, a progressive increase in mid-ventricular pressure gradient was reported and increasing pulmonary arterial pressure, even though the patient was asymptomatic. In 2013, the patient was hospitalized after a resuscitated cardiac arrest due to VF. The coronary angiogram did not show any significant coronary obstructions. The echocardiography showed a systolic anterior motion (SAM) of the mitral valve causing a dynamic pressure gradient in the left ventricular outflow tract reaching 90 mmHg and pulmonary hypertension (PAPs 60 mmHg). A double-chamber ICD was implanted as a secondary prevention of SCD and after a discussion with the Heart-Team, a surgical myectomy with the Morrow technique was performed on the patient. A total of 16 grams of myocardium was removed from the basal interventricular septum, three II order chordae tendineae were dissected from the AML and a mitral valve repair was performed on the patient. The myocardium was reported to show the typical aspects of infiltration; for this reason, a wide genetic analysis was performed which led to the diagnosis of Anderson–Fabry disease (a hemizygous GLA mutation and a homozygous MYBPC3 mutation). Therefore, specific enzymatic therapy was started. The genetic analysis was extended to the patient’s relatives leading to the that the patient’s brother and daughter were both carriers of the mutation. Starting in 2019, the patient began to develop symptoms of cardiac failure (mainly dyspnoea). An echocardiographic investigation showed a moderate to severe aortic regurgitation, a moderate mitral regurgitation, moderate left ventricular dilation, and pulmonary hypertension. The patient’s case was submitted to the Heart-Team’s discussion: due to the patient’s age and clinical conditions, heart transplantation was rejected and medical therapy was decided to be the best option. In 2021 the patient presented with worsening of clinical conditions including dyspnoea during daily activities (NYHA III). An echographic investigation found severe mitral regurgitation with a dilated and hypokinetic LV (EF 30%). The patient was hospitalized for decompensated HF: the coronary angiography did not show CAD and the cardiac catheterization showed low cardiac output without high vascular pulmonary resistances. After the Heart-Team re-evaluation, we decided to perform a percutaneous correction of the mitral regurgitation and in July 2021 Mitraclip implantation was performed on the patient without peri- and post-procedural complications. At the 3-month evaluation the patient was in better clinical conditions with improvement in his functional status (NYHA II). This patient is now continuing outpatient follow-up and we are considering the possibility of a future transcatheter correction of aortic valve regurgitation. Conclusions we submitted this clinical report with the aim to show how, thanks to the development of increasingly advanced diagnostic and therapeutic tools, it is nowadays possible to manage these complex phenotypes and their complications.