Heart valve disease (HVD) occurs when one or more of the heart’s four valves—the mechanical “doors” that regulate blood flow—malfunctions, either by failing to open completely (stenosis) or failing to close tightly (regurgitation). While many cases of HVD develop later in life due to acquired factors, a significant proportion have a clear hereditary component. Understanding the origin of the valve problem, whether congenital or acquired, is important for managing the condition and assessing risk for family members. The presence of HVD in multiple family members often suggests an underlying genetic predisposition that influences both the likelihood and the severity of the disease.
Congenital and Inherited Valve Conditions
Inherited heart valve diseases are typically structural abnormalities present from birth, though symptoms may not appear until adulthood. The most common inherited valve defect is Bicuspid Aortic Valve (BAV), a condition where the aortic valve has only two cusps, or leaflets, instead of the usual three. BAV affects approximately 1.4% of the general population and is often inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the gene mutation. The condition often leads to complications later in life, such as the valve becoming narrowed (stenosis) or leaky (regurgitation), or the development of an ascending aortic aneurysm.
Genetic disorders affecting the body’s connective tissue can severely impact the heart valves, which rely on strong, flexible connective tissue. Conditions like Marfan Syndrome, caused by a mutation in the FBN1 gene, weaken this tissue, frequently leading to mitral valve prolapse or aortic valve regurgitation and aortic enlargement. Ehlers-Danlos Syndrome, another group of inherited connective tissue disorders, can similarly compromise the structural integrity of the valve leaflets and the aortic wall. These syndromic forms of HVD often involve multiple organs and are more complex than isolated valve defects.
Familial clustering is also observed in non-syndromic forms, such as myxomatous Mitral Valve Prolapse (MVP). MVP occurs when the mitral valve leaflets bulge back into the upper heart chamber during a heartbeat, sometimes causing regurgitation. First-degree relatives of individuals with non-rheumatic mitral valve disease show a significantly increased likelihood of developing the condition.
Common Acquired Causes of Valve Disease
Many heart valve issues are not related to genetics but are acquired over a person’s lifetime, often due to injury or age-related degeneration. The most common cause of HVD in older adults is age-related wear-and-tear, which involves the gradual thickening and stiffening of the valve leaflets, particularly the aortic valve. This process, known as degenerative calcification, restricts blood flow and is considered a consequence of aging and associated risk factors.
Infectious processes represent another major category of acquired HVD. Rheumatic fever, a complication of untreated strep throat, causes an inflammatory disease that can permanently scar the heart valves, leading to rheumatic heart disease. While much rarer today due to antibiotic use, the damage may not manifest as severe HVD for decades. Infective endocarditis is a bacterial infection of the heart’s inner lining and valves, which can rapidly destroy valve tissue and is not typically linked to a hereditary cause.
Heart valve problems can also arise secondarily from other chronic medical conditions that place stress on the heart’s structure. Uncontrolled high blood pressure, coronary artery disease, or heart failure can cause the heart chambers to enlarge and stretch the valve annulus, preventing the valves from closing properly and resulting in functional regurgitation. While a genetic predisposition might influence a person’s risk for these underlying conditions, the resulting valve damage is an acquired mechanical consequence.
Assessing Family Risk and Genetic Screening
For individuals with a family history of HVD, particularly those diagnosed young or with a congenital defect, a proactive approach to risk assessment is prudent. The first step is compiling a detailed family health history, focusing on first-degree relatives—parents, siblings, and children. Information regarding the specific type of HVD, the age of diagnosis, and any related cardiac events like aneurysms or sudden death should be documented.
Non-invasive screening tools are routinely used for at-risk family members, even if they show no symptoms. The echocardiogram, a specialized ultrasound of the heart, is the standard method for visualizing valve structure and function, allowing for the early detection of subtle abnormalities like an undiagnosed BAV. Early detection through cascade screening allows for timely intervention and preventative strategies.
If a specific inherited condition is suspected, genetic counseling becomes a valuable resource. Genetic counselors can interpret family history, calculate the probability of inheritance, and discuss the implications of genetic testing. If a disease-causing gene mutation is identified in an affected family member, predictive genetic testing can be offered to at-risk relatives. These steps empower individuals to partner with a cardio-genetic specialist to establish a personalized, long-term monitoring and prevention plan.