JACC. Case reports · 2025
Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Feidakis Athanasios, Nies Richard, Kural Merve, Pennig Lenhard, Winnerling Nora, Erger Florian, Pfister Roman, Seuthe Katharina
Аннотация
BACKGROUND: Myosin inhibitor therapy is a novel option for hypertrophic cardiomyopathy (HCM) with left ventricular outflow tract obstruction. Noonan syndrome (NS), a RASopathy, can mimic HCM but was excluded from myosin inhibitor trials.
CASE SUMMARY: A 60-year-old woman with obstructive HCM (HOCM) presented with progressive dyspnea (NYHA functional class III). Echocardiography showed severe septal hypertrophy (19 mm) and persistent left ventricular outflow tract obstruction (peak gradient: 51 mm Hg during Valsalva) despite beta-blocker therapy. Mavacamten, a myosin ATPase inhibitor, was initiated. After 6 months, symptoms improved (NYHA functional class II), the gradient decreased to 11 mm Hg, and N-terminal pro-B-type natriuretic peptide levels normalized. Genetic testing later confirmed NS.
DISCUSSION: This is to our knowledge the first reported case of myosin inhibitor efficacy in NS-associated HOCM. Although NS-related hypertrophy stems from RAS/MAPK pathway dysregulation, the patient responded similarly to those with sarcomeric mutations. This suggests downstream hypercontractility may be a shared therapeutic target.
TAKE-HOME MESSAGES: Myosin inhibitors may benefit syndromic HOCM. Further research is warranted.
CASE SUMMARY: A 60-year-old woman with obstructive HCM (HOCM) presented with progressive dyspnea (NYHA functional class III). Echocardiography showed severe septal hypertrophy (19 mm) and persistent left ventricular outflow tract obstruction (peak gradient: 51 mm Hg during Valsalva) despite beta-blocker therapy. Mavacamten, a myosin ATPase inhibitor, was initiated. After 6 months, symptoms improved (NYHA functional class II), the gradient decreased to 11 mm Hg, and N-terminal pro-B-type natriuretic peptide levels normalized. Genetic testing later confirmed NS.
DISCUSSION: This is to our knowledge the first reported case of myosin inhibitor efficacy in NS-associated HOCM. Although NS-related hypertrophy stems from RAS/MAPK pathway dysregulation, the patient responded similarly to those with sarcomeric mutations. This suggests downstream hypercontractility may be a shared therapeutic target.
TAKE-HOME MESSAGES: Myosin inhibitors may benefit syndromic HOCM. Further research is warranted.